[ { "uniprot_canonical_ac": "Q9Y4C4-1", "uniprot_id": [ { "id": "MFHA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4C4", "type": "external" } ], "mass": 116950.0, "length": 1052, "protein_name": "Malignant fibrous histiocytoma-amplified sequence 1", "gene_name": "MFHAS1", "organism": "Human", "refseq_name": "malignant fibrous histiocytoma-amplified sequence 1", "refseq_ac": [ { "id": "NP_004216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004216", "type": "external" } ], "gene_names_uniprotkb": "MFHAS1; MASL1", "gene_names_refseq": "LRRC65; MASL1; MFHAS1; ROCO4", "protein_names_uniprotkb": "Malignant fibrous histiocytoma-amplified sequence 1; Malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1", "protein_names_refseq": "MFH-amplified sequences with leucine-rich tandem repeats 1; leucine rich repeat containing 65; malignant fibrous histiocytoma amplified sequence 1; malignant fibrous histiocytoma-amplified sequence 1; malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1; malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1", "tax_id": 9606, "disease": "fibrous histiocytoma (Disease Ontology:DOID:4415)", "pathway": " (hsa:9258)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10.1038/emboj.2013.79;14691450;16094384;17924679;19608861;20616063;23327923;23584533;24286120;24366607;26154972;26599367;26758079;27920218;28063628;28218747;28228285;28471450;28609714;28904123;29168081;29242379;29437277;29493099;29557506;30484775;31217245;31844290;32357974;32387766;32938616;33298915;34087483;34171305;35051231;36010968;36241641;37217939;37936452;9973190", "class_list": "", "function": "Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]., [RefSeq]; MASL1, a candidate oncogene found in amplification of 8p23.1, is translocated in an immunoblastic B-cell lymphoma cell line., [RefSeq, PubMed]; MFHAS1 deadened high-glucose induced inflammation by activating AKT/HO-1 pathway, [RefSeq, PubMed]; MFHAS1 regulates Toll-like receptor (TLR)-dependent signaling., [RefSeq, PubMed]; Probable GTP-binding protein (PubMed:24286120). Functions in innate immunity and more specifically the inflammatory response as a regulator of the Toll-like receptor TLR2 and TLR4 signaling pathways (PubMed:26599367, PubMed:28471450, PubMed:28609714). Negatively regulates the part of the TLR4 signaling pathway that leads to the activation of the transcription factor AP-1. By retaining the phosphatase complex PP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of the transcription factor (PubMed:28609714). Both inhibits and activates the TLR2-dependent signaling pathway (PubMed:26599367). Positively regulates the TLR2 signaling pathway to activate specifically the downstream p38 and JNK MAP kinases and promote the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450). It may also play a role in the regulation of inflammation induced by high glucose through the PKB/AKT signaling pathway (PubMed:29168081). Also involved in erythrocyte differentiation through activation of the ERK1/ERK2 signaling pathway (PubMed:23327923)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Probable GTP-binding protein. Functions in innate immunity and more specifically the inflammatory response as a regulator of the Toll-like receptor TLR2 and TLR4 signaling pathways. Negatively regulates the part of the TLR4 signaling pathway that leads to the activation of the transcription factor AP-1. By retaining the phosphatase complex PP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of the transcription factor. Both inhibits and activates the TLR2-dependent signaling pathway. Positively regulates the TLR2 signaling pathway to activate specifically the downstream p38 and JNK MAP kinases and promote the polarization of macrophages toward the pro-inflammatory M1 phenotype. It may also play a role in the regulation of inflammation induced by high glucose through the PKB/AKT signaling pathway. Also involved in erythrocyte differentiation through activation of the ERK1/ERK2 signaling pathway., [UniProtKB, UniProtKB]; Silencing MFHAS1 Induces Pyroptosis via the JNK-activated NF-kappaB/Caspase1/ GSDMD Signal Axis in Breast Cancer., [RefSeq, PubMed]; The results indicate that MFHAS1 suppresses TLR4 signaling pathway through induction of PP2A C subunit cytoplasm translocation and subsequent c-Jun degradation, leading finally to decrease AP-1 activity and cytokines expression., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q96CI0", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding;GO:0031625 ubiquitin protein ligase binding;GO:0051721 protein phosphatase 2A binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0034136 negative regulation of toll-like receptor 2 signaling pathway;GO:0006954 inflammatory response;GO:0034121 regulation of toll-like receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9Y4C4-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H211-1", "uniprot_id": [ { "id": "CDT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H211", "type": "external" } ], "mass": 60390.0, "length": 546, "protein_name": "DNA replication factor Cdt1", "gene_name": "CDT1", "organism": "Human", "refseq_name": "DNA replication factor Cdt1", "refseq_ac": [ { "id": "NP_112190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112190", "type": "external" } ], "gene_names_uniprotkb": "CDT1", "gene_names_refseq": "CDT1; DUP; RIS2", "protein_names_uniprotkb": "DNA replication factor Cdt1; DUP; Double parked homolog", "protein_names_refseq": "DNA replication factor Cdt1; Double parked, Drosophila, homolog of", "tax_id": 9606, "disease": "Meier-Gorlin syndrome 4 (Disease Ontology:DOID:0080515)", "pathway": " (hsa:81620); (R-HSA-68867); (R-HSA-68949); (R-HSA-68962); (R-HSA-69052); (R-HSA-69205)", "pathway_count": 6, "publication_count": 145, "publication_id_list": "10228158;10373557;10454584;10518787;10523313;10597240;10692433;10757793;10766248;10846177;10882098;10884341;11095689;11125146;11237011;11248027;11562349;11739726;11931757;11959842;11988738;12045100;12364596;12782299;14672932;14990995;14993212;15014447;15257290;15302935;15510213;15855168;16824194;16861906;16949367;17085480;17234884;17485488;18669648;18767875;18832067;18991276;19690332;19896182;20112406;21358631;21358632;21543332;21856198;22581055;22645314;23186163;23481700;23603117;23851460;24366607;24714562;24715725;24828503;25231993;25418920;25469497;25576301;25990725;26154972;26222030;26375851;26728094;26768311;26811146;26842564;26929215;26992070;27249176;27296872;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29789417;30281379;30315122;30429286;30484775;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32387766;32488085;32502341;32983136;33141586;33298915;33537174;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34185709;34211107;34348833;34561969;34932366;35051231;35318648;35412947;35561310;35580925;36010968;36215666;36241641;36443564;39507968;7623816;7929342;8114698;8288595;8618861;8943353;9020173;9520412;9635433;9660782;9662327;9778043", "class_list": "", "function": "Elevated expression of CDT1 in childhood acute lymphoblastic leukemia promotes cell proliferation, invasion and migration through activation of EMT., [RefSeq, PubMed]; Long non-coding RNA-PCGEM1 contributes to prostate cancer progression by sponging microRNA miR-129-5p to enhance chromatin licensing and DNA replication factor 1 expression., [RefSeq, PubMed]; Required for both DNA replication and mitosis (PubMed:11125146, PubMed:14993212, PubMed:21856198, PubMed:22581055, PubMed:26842564). DNA replication licensing factor, required for pre-replication complex assembly. Cooperates with CDC6 and the origin recognition complex (ORC) during G1 phase of the cell cycle to promote the loading of the mini-chromosome maintenance (MCM) complex onto DNA to generate pre-replication complexes (pre-RC) (PubMed:14672932). Required also for mitosis by promoting stable kinetochore-microtubule attachments (PubMed:22581055). Potential oncogene (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The proliferation of atypical hepatocytes and CDT1 expression in noncancerous tissue are associated with the postoperative recurrence of hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]., [RefSeq]; [miR-2110 Affects the Biological Behaviors of Lung Adenocarcinoma by Regulating CDT1]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86XX9;Q96CJ5;Q96GK5;Q96H67;Q96HE6;Q9BWM0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0070182 DNA polymerase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000776 kinetochore", "go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:0071163 DNA replication preinitiation complex assembly;GO:0072708 response to sorbitol", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q9H211-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "F8W0I5-1", "uniprot_id": [ { "id": "NPB12_HUMAN", "url": "https://www.uniprot.org/uniprot/F8W0I5", "type": "external" } ], "mass": 104040.0, "length": 928, "protein_name": "Nuclear pore complex-interacting protein family member B12", "gene_name": "NPIPB12", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member B12 isoform a", "refseq_ac": [ { "id": "NP_001342330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342330", "type": "external" } ], "gene_names_uniprotkb": "NPIPB12", "gene_names_refseq": "NPIPB12", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member B12", "protein_names_refseq": "nuclear pore complex-interacting protein family member B12 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:440353)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "F8W0I5-1", "record_type": "protein", "filter_code": "0000000.1000001.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6X9-1", "uniprot_id": [ { "id": "A0A075B6X9_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6X9", "type": "external" } ], "mass": 2492.0, "length": 22, "protein_name": "T cell receptor alpha joining 18", "gene_name": "TRAJ18", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAJ18", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 18", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A075B6X9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0J9YW14-1", "uniprot_id": [ { "id": "A0A0J9YW14_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0J9YW14", "type": "external" } ], "mass": 1825.0, "length": 17, "protein_name": "Immunoglobulin heavy joining 3", "gene_name": "IGHJ3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHJ3", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy joining 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A0J9YW14-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0C4DH59-1", "uniprot_id": [ { "id": "TVB54_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0C4DH59", "type": "external" } ], "mass": 12518.0, "length": 114, "protein_name": "T cell receptor beta variable 5-4", "gene_name": "TRBV5-4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV5-4", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 5-4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response;GO:0002376 immune system process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0C4DH59-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "M0R2J8-1", "uniprot_id": [ { "id": "DCDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/M0R2J8", "type": "external" } ], "mass": 200591.0, "length": 1783, "protein_name": "Doublecortin domain-containing protein 1", "gene_name": "DCDC1", "organism": "Human", "refseq_name": "doublecortin domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_861523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861523", "type": "external" } ], "gene_names_uniprotkb": "DCDC1; DCDC5; KIAA1493", "gene_names_refseq": "DCDC1; DCDC5", "protein_names_uniprotkb": "Doublecortin domain-containing protein 1; Doublecortin domain-containing 5 protein", "protein_names_refseq": "doublecortin domain-containing 5 protein; doublecortin domain-containing protein 1 isoform 2; doublecortin domain-containing protein 1; doublecortin domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:341019)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;12820024;22159412;35051231;35580925;39894887", "class_list": "", "function": "DCDC1 was mapped to 11p13; mainly expressed in adult testis; and its expression in fetal brain was much higher than in adult brain, [RefSeq, PubMed]; DCDC5 colocalizes with Rab8 and links it to dynein during cytokinesis. DCDC5 knockdown increased apoptosis and the number of multinucleated cells., [RefSeq, PubMed]; Microtubule-binding protein which plays an important role in mediating dynein-dependent transport of RAB8A-positive vesicles to the midbody during cytokinesis (PubMed:22159412)., [UniProtKB, PubMed]; This gene encodes a member of the doublecortin family. The protein encoded by this gene is a hydrophilic, intracellular protein. It contains a single doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. This gene is mainly expressed in adult testis. It does not have a mouse homolog. [provided by RefSeq, Sep 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6PVL6;B1AL47;B7WNX6;P59894;Q6ZRR9;Q6ZU04", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005874 microtubule;GO:0030496 midbody;GO:0090543 Flemming body;GO:0072686 mitotic spindle", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0051301 cell division;GO:1902412 regulation of mitotic cytokinesis", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "M0R2J8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6H8-1", "uniprot_id": [ { "id": "KVD42_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6H8", "type": "external" } ], "mass": 13014.0, "length": 117, "protein_name": "Probable non-functional immunoglobulin kappa variable 1D-42", "gene_name": "IGKV1D-42", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV1D-42", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin kappa variable 1D-42", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;36284347;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin light chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 225, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A0A075B6H8-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6L6-1", "uniprot_id": [ { "id": "TVB73_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6L6", "type": "external" } ], "mass": 12410.0, "length": 115, "protein_name": "Probable non-functional T cell receptor beta variable 7-3", "gene_name": "TRBV7-3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV7-3", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional T cell receptor beta variable 7-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;9619395", "class_list": "", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of T cell receptor (TR) beta chain (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive T cell receptor (TR) chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A075B6L6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6W9-1", "uniprot_id": [ { "id": "A0A075B6W9_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6W9", "type": "external" } ], "mass": 2280.0, "length": 22, "protein_name": "T cell receptor alpha joining 53", "gene_name": "TRAJ53", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAJ53", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 53", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, 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"length": 13, "protein_name": "Immunoglobulin kappa joining 5", "gene_name": "IGKJ5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKJ5", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa joining 5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A0A0MTA3-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1W2PQ73-1", "uniprot_id": [ { "id": "ERFL_HUMAN", "url": 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"binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A1W2PQ73-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GUX0-1", "uniprot_id": [ { "id": "SMIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GUX0", "type": "external" } ], "mass": 20389.0, "length": 176, "protein_name": "Protein SPMIP1", "gene_name": "SPMIP1", "organism": "Human", "refseq_name": "protein SPMIP1", "refseq_ac": [ { "id": "NP_001182079", "url": 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0045087 innate immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A1B0GX56-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00571-1", "uniprot_id": [ { "id": "DDX3X_HUMAN", "url": "https://www.uniprot.org/uniprot/O00571", "type": "external" } ], "mass": 73243.0, "length": 662, "protein_name": "ATP-dependent RNA helicase DDX3X", "gene_name": "DDX3X", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase DDX3X isoform 2", "refseq_ac": [ { "id": "NP_001180345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180345", "type": "external" } ], "gene_names_uniprotkb": "DDX3X; DBX; DDX3", "gene_names_refseq": "CAP-Rf; DBX; DDX14; DDX3X; DDX3; HLP2; MRX102; MRXSSB", "protein_names_uniprotkb": "ATP-dependent RNA helicase DDX3X; 3.6.4.13; CAP-Rf; DBX; DEAD box protein 3, X-chromosomal; DEAD box, X isoform; HLP2; Helicase-like protein 2", "protein_names_refseq": "ATP-dependent RNA helicase DDX3X isoform 2; ATP-dependent RNA helicase DDX3X; DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked; DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked; DEAD box protein 3, X-chromosomal; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3; DEAD/H box-3; helicase-like protein 2", "tax_id": 9606, "disease": "Sertoli cell-only syndrome (Disease Ontology:DOID:0050457); syndromic X-linked intellectual disability (Disease Ontology:DOID:0060309); childhood medulloblastoma (Disease Ontology:DOID:3869); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); intellectual disability, X-linked 102 (MONDO:MONDO:0010497)", "pathway": " (hsa:1654); (R-HSA-6798695); (R-HSA-9920588)", "pathway_count": 3, "publication_count": 209, "publication_id_list": "10.1101/2023.09.13.557529;10329544;10859333;11237011;11557759;14654843;14729942;15294876;15507209;15592455;16094384;16280325;16301996;16818630;16959974;17095540;17287340;17357160;17379183;17401195;17631897;17667941;17924679;18212344;18264132;18496526;18583960;18596238;18628297;18632687;18636090;18669648;18846110;19029303;19413330;19415658;19608861;19664995;19691289;19754307;19901323;19913487;20068231;20112406;20127681;20375222;20657822;20837705;21170385;21406692;21566123;21589879;21730191;21883093;22034099;22223895;22323517;22872150;23186163;23413191;23478265;23650620;24129315;24173023;24275569;24366607;24714562;24715725;25039764;25208899;25218447;25418920;25469497;25576301;25802875;25810538;25892735;26030138;26100019;26154972;26235985;26811146;26853435;26992070;27105836;27397612;27546789;27600516;27736973;27832191;27846572;27862975;27920218;27980081;28063628;28128295;28218747;28228285;28510447;28514659;28649982;28733330;28764923;28832583;28834231;28842590;28855257;28860189;28904123;29062139;29222110;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29899501;30059200;30131165;30256975;30315122;30341167;30397120;30410026;30444036;30484775;30524438;30550790;30779550;30833945;31154438;31217245;31222486;31300642;31373491;31492838;31530632;31575075;31844290;31848261;31867016;31937595;31998317;32119511;32152943;32157095;32265295;32350084;32357974;32387766;32432721;32488085;32502341;32778820;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33674311;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34433824;34509645;34561969;34725712;34932366;35051231;35083852;35251023;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37938771;38665916;39062517;39189461;39990658;40592469;40596516;8692836;9381176", "class_list": "", "function": "(Microbial infection) Facilitates Dengue virus (DENV) replication., [UniProtKB, PubMed]; (Microbial infection) Facilitates HIV-1 replication (PubMed:15507209, PubMed:18583960, PubMed:21589879, PubMed:22872150, PubMed:29899501). Acts as a cofactor for XPO1-mediated nuclear export of HIV-1 Rev RNAs (PubMed:15507209, PubMed:18583960, PubMed:29899501). This function is strongly stimulated in the presence of TBK1 and requires DDX3X ATPase activity (PubMed:18583960)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) Facilitates Venezuelan equine encephalitis virus (VEEV) replication., [UniProtKB, PubMed]; (Microbial infection) Facilitates Zika virus (ZIKV) replication., [UniProtKB, PubMed]; (Microbial infection) Facilitates hepatitis C virus (HCV) replication (PubMed:29899501). During infection, HCV core protein inhibits the interaction between MAVS and DDX3X and therefore impairs MAVS-dependent INFB induction and might recruit DDX3X to HCV replication complex (PubMed:21170385)., [UniProtKB, PubMed, PubMed]; Data suggest complex translational control mechanism(s) for the human DDX3X gene locus functioning only in the male germ line and resulting in expression of its protein only in the postmeiotic spermatids., [RefSeq, PubMed]; Multifunctional ATP-dependent RNA helicase (PubMed:17357160, PubMed:21589879, PubMed:31575075). The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity (PubMed:29222110). In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs (PubMed:17357160, PubMed:21589879). Binds RNA G-quadruplex (rG4s) structures, including those located in the 5'-UTR of NRAS mRNA (PubMed:30256975). Involved in many cellular processes, which do not necessarily require its ATPase/helicase catalytic activities (Probable). Involved in transcription regulation (PubMed:16818630, PubMed:18264132). Positively regulates CDKN1A/WAF1/CIP1 transcription in an SP1-dependent manner, hence inhibits cell growth. This function requires its ATPase, but not helicase activity (PubMed:16818630, PubMed:18264132). CDKN1A up-regulation may be cell-type specific (PubMed:18264132). Binds CDH1/E-cadherin promoter and represses its transcription (PubMed:18264132). Potentiates HNF4A-mediated MTTP transcriptional activation; this function requires ATPase, but not helicase activity. Facilitates HNF4A acetylation, possibly catalyzed by CREBBP/EP300, thereby increasing the DNA-binding affinity of HNF4 to its response element. In addition, disrupts the interaction between HNF4 and SHP that forms inactive heterodimers and enhances the formation of active HNF4 homodimers. By promoting HNF4A-induced MTTP expression, may play a role in lipid homeostasis (PubMed:28128295). May positively regulate TP53 transcription (PubMed:28842590). Associates with mRNPs, predominantly with spliced mRNAs carrying an exon junction complex (EJC) (PubMed:17095540, PubMed:18596238). Involved in the regulation of translation initiation (PubMed:17667941, PubMed:18628297, PubMed:22872150). Not involved in the general process of translation, but promotes efficient translation of selected complex mRNAs, containing highly structured 5'-untranslated regions (UTR) (PubMed:20837705, PubMed:22872150). This function depends on helicase activity (PubMed:20837705, PubMed:22872150). Might facilitate translation by resolving secondary structures of 5'-UTRs during ribosome scanning (PubMed:20837705). Alternatively, may act prior to 43S ribosomal scanning and promote 43S pre-initiation complex entry to mRNAs exhibiting specific RNA motifs, by performing local remodeling of transcript structures located close to the cap moiety (PubMed:22872150). Independently of its ATPase activity, promotes the assembly of functional 80S ribosomes and disassembles from ribosomes prior to the translation elongation process (PubMed:22323517). Positively regulates the translation of cyclin E1/CCNE1 mRNA and consequently promotes G1/S-phase transition during the cell cycle (PubMed:20837705). May activate TP53 translation (PubMed:28842590). Required for endoplasmic reticulum stress-induced ATF4 mRNA translation (PubMed:29062139). Independently of its ATPase/helicase activity, enhances IRES-mediated translation; this activity requires interaction with EIF4E (PubMed:17667941, PubMed:22323517). Independently of its ATPase/helicase activity, has also been shown specifically repress cap-dependent translation, possibly by acting on translation initiation factor EIF4E (PubMed:17667941). Involved in innate immunity, acting as a viral RNA sensor. Binds viral RNAs and promotes the production of type I interferon (IFN-alpha and IFN-beta) (PubMed:20127681, PubMed:21170385, PubMed:31575075). Potentiate MAVS/RIGI-mediated induction of IFNB in early stages of infection (PubMed:20127681, PubMed:21170385, PubMed:33674311). Enhances IFNB1 expression via IRF3/IRF7 pathway and participates in NFKB activation in the presence of MAVS and TBK1 (PubMed:18583960, PubMed:18636090, PubMed:19913487, PubMed:21170385, PubMed:27980081). Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFNB induction, acts as a scaffolding adapter that links IKBKE and IRF3 and coordinates their activation (PubMed:23478265). Involved in the TLR7/TLR8 signaling pathway leading to type I interferon induction, including IFNA4 production. In this context, acts as an upstream regulator of IRF7 activation by MAP3K14/NIK and CHUK/IKKA. Stimulates CHUK autophosphorylation and activation following physiological activation of the TLR7 and TLR8 pathways, leading to MAP3K14/CHUK-mediated activatory phosphorylation of IRF7 (PubMed:30341167). Also stimulates MAP3K14/CHUK-dependent NF-kappa-B signaling (PubMed:30341167). Negatively regulates TNF-induced IL6 and IL8 expression, via the NF-kappa-B pathway. May act by interacting with RELA/p65 and trapping it in the cytoplasm (PubMed:27736973). May also bind IFNB promoter; the function is independent of IRF3 (PubMed:18583960). Involved in both stress and inflammatory responses (By similarity). Independently of its ATPase/helicase activity, required for efficient stress granule assembly through its interaction with EIF4E, hence promotes survival in stressed cells (PubMed:21883093). Independently of its helicase activity, regulates NLRP3 inflammasome assembly through interaction with NLRP3 and hence promotes cell death by pyroptosis during inflammation. This function is independent of helicase activity (By similarity). Therefore DDX3X availability may be used to interpret stress signals and choose between pro-survival stress granules and pyroptotic NLRP3 inflammasomes and serve as a live-or-die checkpoint in stressed cells (By similarity). In association with GSK3A/B, negatively regulates extrinsic apoptotic signaling pathway via death domain receptors, including TNFRSF10B, slowing down the rate of CASP3 activation following death receptor stimulation (PubMed:18846110). Cleavage by caspases may inactivate DDX3X and relieve the inhibition (PubMed:18846110). Independently of its ATPase/helicase activity, allosteric activator of CSNK1E. Stimulates CSNK1E-mediated phosphorylation of DVL2, thereby involved in the positive regulation of Wnt/beta-catenin signaling pathway. Also activates CSNK1A1 and CSNK1D in vitro, but it is uncertain if these targets are physiologically relevant (PubMed:23413191, PubMed:29222110). ATPase and casein kinase-activating functions are mutually exclusive (PubMed:29222110). May be involved in mitotic chromosome segregation (PubMed:21730191)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Synergistic action of human RNaseH2 and the RNA helicase-nuclease DDX3X in processing R-loops., [RefSeq, PubMed]; The Role of the RNA Helicase DDX3X in Medulloblastoma Progression. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]., [RefSeq]; This review discusses the considerable body of work on the biochemistry and biology of DDX3, including the recently discovered link of human DDX3 to tumorigenesis. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 41, "reported_mutagensis": 34, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K538;B4E3E8;O15536", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "2.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.7", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.7.10.2", "url": 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"url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003924 GTPase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005813 centrosome", "go_biological_process": "GO:0032727 positive regulation of interferon-alpha production;GO:1903608 protein localization to cytoplasmic stress granule;GO:0006351 DNA-templated transcription;GO:0007059 chromosome segregation;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "O00571-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GTC6-1", "uniprot_id": [ { "id": "CC085_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GTC6", "type": "external" } ], "mass": 10386.0, "length": 90, "protein_name": "Uncharacterized protein C3orf85", "gene_name": "C3orf85", "organism": "Human", "refseq_name": "uncharacterized protein C3orf85 precursor", "refseq_ac": [ { "id": "NP_001338551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001338551", "type": "external" } ], "gene_names_uniprotkb": "C3orf85", "gene_names_refseq": "C3orf85", "protein_names_uniprotkb": "Uncharacterized protein C3orf85", "protein_names_refseq": "uncharacterized protein C3orf85 precursor; uncharacterized protein C3orf85", "tax_id": 9606, "disease": "", "pathway": " (hsa:401081)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;36284347", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A1B0GTC6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75674-1", "uniprot_id": [ { "id": "TM1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75674", "type": "external" } ], "mass": 52989.0, "length": 476, "protein_name": "TOM1-like protein 1", "gene_name": "TOM1L1", "organism": "Human", "refseq_name": "TOM1-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001308102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308102", "type": "external" } ], "gene_names_uniprotkb": "TOM1L1; SRCASM", "gene_names_refseq": "SRCASM; TOM1L1", "protein_names_uniprotkb": "TOM1-like protein 1; Src-activating and signaling molecule protein; Target of Myb-like protein 1", "protein_names_refseq": "TOM1-like protein 1 isoform 2; TOM1-like protein 1; src-activating and signaling molecule protein; target of Myb-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10040)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10.1101/2023.09.13.557529;10329004;11237011;11711534;15579470;17525332;18669648;19413330;19690332;19798056;20068231;23186163;24275569;24715725;25576301;26899482;29242379;29508533;30429286;30779550;31154438;31217245;31844290;32157095;32161166;32350084;32502341;32938616;33592498;33633747;33968037;33981976;34171305;35051231;35154160;35238864;36241641;37074911", "class_list": "", "function": "Fyn and TOM1L1 are recruited to clathrin-coated pits and regulate Akt signaling., [RefSeq, PubMed]; Probable adapter protein involved in signaling pathways. Interacts with the SH2 and SH3 domains of various signaling proteins when it is phosphorylated. May promote FYN activation, possibly by disrupting intramolecular SH3-dependent interactions (By similarity)., [UniProtKB]; Srcasm plays a role in linking EGF receptor- and SFK-dependent signaling to differentiation in keratinocytes, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z9E2;Q53G06;Q8N749", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding;GO:0030295 protein kinase activator activity;GO:0030276 clathrin binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:0015031 protein transport;GO:0032147 activation of protein kinase activity;GO:0045839 negative regulation of mitotic nuclear division;GO:0031954 positive regulation of protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O75674-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14967-1", "uniprot_id": [ { "id": "CLGN_HUMAN", "url": "https://www.uniprot.org/uniprot/O14967", "type": "external" } ], "mass": 70039.0, "length": 610, "protein_name": "Calmegin", "gene_name": "CLGN", "organism": "Human", "refseq_name": "calmegin precursor", "refseq_ac": [ { "id": "NP_001124147", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124147", "type": "external" } ], "gene_names_uniprotkb": "CLGN", "gene_names_refseq": "CLGN", "protein_names_uniprotkb": "Calmegin", "protein_names_refseq": "calmegin precursor; testis tissue sperm-binding protein Li 79P", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); childhood-onset asthma (Disease Ontology:DOID:0080815); open-angle glaucoma (Disease Ontology:DOID:1067); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); pulmonary edema (Disease Ontology:DOID:11396); polycystic ovary syndrome (Disease Ontology:DOID:11612); Graves' disease (Disease Ontology:DOID:12361); dilated cardiomyopathy (Disease Ontology:DOID:12930); familial hypercholesterolemia (Disease Ontology:DOID:13810); interstitial cystitis (Disease Ontology:DOID:13949); toxic shock syndrome (Disease Ontology:DOID:14115); hypothyroidism (Disease Ontology:DOID:1459); cystic fibrosis (Disease Ontology:DOID:1485); urticaria (Disease Ontology:DOID:1555); dermatitis (Disease Ontology:DOID:2723); asthma (Disease Ontology:DOID:2841); bronchiolitis (Disease Ontology:DOID:2942); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); myasthenia gravis (Disease Ontology:DOID:437); cholangiocarcinoma (Disease Ontology:DOID:4947); pneumonia (Disease Ontology:DOID:552); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); end stage renal disease (Disease Ontology:DOID:783); myocarditis (Disease Ontology:DOID:820); ulcerative colitis (Disease Ontology:DOID:8577); psoriasis (Disease Ontology:DOID:8893); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1047)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10.1038/emboj.2013.79;10495883;11237011;11784061;14702039;15489334;17081983;17507649;17903293;20068231;21269460;23584533;24715725;24769397;26638075;27173435;27271309;27846572;27920218;28218747;28904123;29437277;29493099;29557506;30315122;30833945;31611695;31844290;32157095;32350084;32357974;32387766;32897882;33968037;34171305;34357683;34561969;35051231;35580925;36215666;36284347;37217939;8126001;9177349;9434179", "class_list": "glycogene", "function": "Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq, Jul 2008]., [RefSeq]; Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida. Required for normal sperm migration from the uterus into the oviduct. Required for normal male fertility. Binds calcium ions (By similarity)., [UniProtKB]; In gene-based analysis CLGN1 represented one of a cluster of genes, which interacted with sodium to influence Blood Pressure., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 724, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 32, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KS90;B4DXV8;D3DNY8", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0005509 calcium ion binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007338 single fertilization;GO:0006457 protein folding;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O14967-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75175-1", "uniprot_id": [ { "id": "CNOT3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75175", "type": "external" } ], "mass": 81872.0, "length": 753, "protein_name": "CCR4-NOT transcription complex subunit 3", "gene_name": "CNOT3", "organism": "Human", "refseq_name": "CCR4-NOT transcription complex subunit 3 isoform 1", "refseq_ac": [ { "id": "NP_055331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055331", "type": "external" } ], "gene_names_uniprotkb": "CNOT3; KIAA0691; LENG2; NOT3", "gene_names_refseq": "CNOT3; IDDSADF; LENG2; NOT3H; NOT3", "protein_names_uniprotkb": "CCR4-NOT transcription complex subunit 3; CCR4-associated factor 3; Leukocyte receptor cluster member 2", "protein_names_refseq": "CCR4-NOT transcription complex subunit 3 isoform 1; CCR4-associated factor 3; NOT3 (negative regulator of transcription 3, yeast) homolog; leukocyte receptor cluster member 2", "tax_id": 9606, "disease": "intellectual developmental disorder with speech delay, autism, and dysmorphic facies (MONDO:MONDO:0032864)", "pathway": " (hsa:4849); (R-HSA-429947); (R-HSA-6804115); (R-HSA-9820841)", "pathway_count": 4, "publication_count": 115, "publication_id_list": "10.1101/2023.09.13.557529;10637334;10882133;11237011;11283721;11814693;11889047;11896574;12207886;12897130;1355481;14583602;14707134;14749774;14968113;15302935;15475613;15713436;16140933;16141059;16160013;16284618;17052452;17146433;17245413;17595167;18212344;18337750;18625844;18669648;18691976;19239894;19276069;19415658;19558367;19651622;20068231;20230923;20352051;20531387;21299754;21406692;22252318;22342980;22367759;23236473;24275569;24366607;24714562;24715725;25480299;25576301;25645385;25892735;26154972;26811146;26992070;27807034;27846572;28228285;28514659;28832583;28904123;29242379;29393594;29493099;29557506;29769354;30315122;30524438;30833945;31154438;31201375;31217245;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32502391;32897882;32938616;32983136;33141586;33592498;33633747;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34647228;34680937;35051231;35254053;35318648;35561310;35580925;36010968;36241641;36802310;37846490;37938771;38491013;8944033;9099687;9184226;9671765;9712883", "class_list": "", "function": "CCR4-NOT differentially controls host versus virus poly(a)-tail length and regulates HCMV infection., [RefSeq, PubMed]; Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients., [RefSeq, PubMed]; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism. Involved in mitotic progression and regulation of the spindle assembly checkpoint by regulating the stability of MAD1L1 mRNA. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may involve histone deacetylases. Involved in the maintenance of embryonic stem (ES) cell identity., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Determinants of Disease Penetrance in PRPF31-Associated Retinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; TBP-interacting protein 120B binds to NOT3, [RefSeq, PubMed]; Translation efficiency driven by CNOT3 subunit of the CCR4-NOT complex promotes leukemogenesis. Erratum:[Nat Commun. 2024 Oct 7;15(1):8674. doi: 10.1038/s41467-024-53071-1. PMID: 39375334] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q9NZN7;Q9UF76", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0000932 P-body;GO:0030014 CCR4-NOT complex;GO:0030015 CCR4-NOT core complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006417 regulation of translation;GO:0006355 regulation of DNA-templated transcription;GO:0001829 trophectodermal cell differentiation;GO:0007368 determination of left/right symmetry", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "O75175-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75208-1", "uniprot_id": [ { "id": "COQ9_HUMAN", "url": "https://www.uniprot.org/uniprot/O75208", "type": "external" } ], "mass": 35509.0, "length": 318, "protein_name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "gene_name": "COQ9", "organism": "Human", "refseq_name": "ubiquinone biosynthesis protein COQ9, mitochondrial precursor", "refseq_ac": [ { "id": "NP_064708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064708", "type": "external" } ], "gene_names_uniprotkb": "COQ9; C16orf49; HSPC326; PSEC0129", "gene_names_refseq": "C16orf49; COQ10D5; COQ9", "protein_names_uniprotkb": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "protein_names_refseq": "coenzyme Q9 homolog; ubiquinone biosynthesis protein COQ9, mitochondrial precursor; ubiquinone biosynthesis protein COQ9, mitochondrial", "tax_id": 9606, "disease": "coenzyme Q10 deficiency disease (Disease Ontology:DOID:0050730); primary coenzyme Q10 deficiency 5 (Disease Ontology:DOID:0070242)", "pathway": " (hsa:57017); (R-HSA-2142789)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;10501970;10777520;11230166;11237011;12721307;15153069;16262699;16303743;16624818;17374725;17916383;19375058;20068231;21540551;21944752;23354120;24270420;25152161;25339443;25576301;25880248;26992070;27155576;27499296;27600516;28218747;28510447;28514659;28904123;29242379;29393594;29437277;29557506;30315122;30661980;31844290;32357974;32488085;32502341;32707086;32938616;33141586;33298915;33717175;33936100;33981976;34105294;34471290;34561969;36010968;36306796;36658222;38297121;38425362;8621692;9083049", "class_list": "", "function": "DDIT3 Directs a Dual Mechanism to Balance Glycolysis and Oxidative Phosphorylation during Glutamine Deprivation., [RefSeq, PubMed]; Membrane-associated protein that warps the membrane surface to access and bind aromatic isoprenes with high specificity, including ubiquinone (CoQ) isoprene intermediates and presents them directly to COQ7, therefore facilitating the COQ7-mediated hydroxylase step (PubMed:25339443, PubMed:30661980, PubMed:38425362). Participates in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:25339443, PubMed:30661980)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structure and functionality of a multimeric human COQ7:COQ9 complex., [RefSeq, PubMed]; There is a homozygous stop mutation affecting a highly conserved residue of COQ9, leading to the truncation of 75 amino acids., [RefSeq, PubMed]; This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K3L2;Q7L5V7;Q7Z5T6;Q8NBL4;Q9NTJ2;Q9P056", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0042803 protein homodimerization activity;GO:0008289 lipid binding;GO:0019840 isoprenoid binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006744 ubiquinone biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O75208-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75128-1", "uniprot_id": [ { "id": "COBL_HUMAN", "url": "https://www.uniprot.org/uniprot/O75128", "type": "external" } ], "mass": 135617.0, "length": 1261, "protein_name": "Protein cordon-bleu", "gene_name": "COBL", "organism": "Human", "refseq_name": "protein cordon-bleu isoform a", "refseq_ac": [ { "id": "NP_001274365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274365", "type": "external" } ], "gene_names_uniprotkb": "COBL; KIAA0633", "gene_names_refseq": "COBL", "protein_names_uniprotkb": "Protein cordon-bleu", "protein_names_refseq": "protein cordon-bleu isoform a; protein cordon-bleu", "tax_id": 9606, "disease": "", "pathway": " (hsa:23242)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;15345747;18220336;18669648;19058789;19240061;20068231;21816349;23186163;23481700;24275569;25645385;26992070;27600516;28063628;28834231;29242379;29557506;29632046;29789417;30379171;30779550;31154438;31848261;32157095;32161166;32357974;33392160;33936100;33981976;34087483;34171305;34405274;34509645;35051231;35494241;35580925;36215666;36284347;36834493", "class_list": "", "function": "COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children. Publication Status: Online-Only, [RefSeq, PubMed]; Cordon-Bleu works as a dynamizer of actin assembly by combining many properties of profilin with weak filament nucleating and powerful filament severing activities and sequestration of ADP-actin, which generate oscillatory polymerization kinetics., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles., [UniProtKB, PubMed]; This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D257;A7E2B0;B7ZLW9;B9EGF8;Q2T9J3;Q504Y4;Q86XA7;Q8N304;Q8TCM1", "ec_number_list": [], "go_molecular_function": "GO:0003785 actin monomer binding", "go_cellular_component": "GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:0000578 embryonic axis specification;GO:0001889 liver development;GO:0048669 collateral sprouting in absence of injury;GO:0001843 neural tube closure;GO:0030041 actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O75128-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGG3-1", "uniprot_id": [ { "id": "CI092_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGG3", "type": "external" } ], "mass": 8520.0, "length": 77, "protein_name": "Putative uncharacterized protein encoded by LINC03041", "gene_name": "LINC03041", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC03041; C9orf92", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC03041; Long intergenic non-protein coding RNA 3041", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11329013;30379171", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NMF8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NGG3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5YKK6-1", "uniprot_id": [ { "id": "CNOT1_HUMAN", "url": "https://www.uniprot.org/uniprot/A5YKK6", "type": "external" } ], "mass": 266939.0, "length": 2376, "protein_name": "CCR4-NOT transcription complex subunit 1", "gene_name": "CNOT1", "organism": "Human", "refseq_name": "CCR4-NOT transcription complex subunit 1 isoform c", "refseq_ac": [ { "id": "NP_001252541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541", "type": "external" } ], "gene_names_uniprotkb": "CNOT1; AD-005; CDC39; KIAA1007; NOT1", "gene_names_refseq": "AD-005; CDC39; CNOT1; HPE12; NOT1H; NOT1; VIBOS", "protein_names_uniprotkb": "CCR4-NOT transcription complex subunit 1; CCR4-associated factor 1; NOT1H; Negative regulator of transcription subunit 1 homolog; hNOT1", "protein_names_refseq": "CCR4-NOT transcription complex subunit 1 isoform c; CCR4-associated factor 1; NOT1 (negative regulator of transcription 1, yeast) homolog; adrenal gland protein AD-005; negative regulator of transcription subunit 1 homolog", "tax_id": 9606, "disease": "Vissers-Bodmer syndrome (Disease Ontology:DOID:0081397); holoprosencephaly 12 (Disease Ontology:DOID:0081398); heart disease (Disease Ontology:DOID:114)", "pathway": " (hsa:23019); (R-HSA-429947); (R-HSA-6804115); (R-HSA-9820841)", "pathway_count": 4, "publication_count": 207, "publication_id_list": "10637334;10882133;10931946;11237011;11283721;11733989;11814693;11889047;11896574;12897130;1355481;14583602;14749774;14968113;15475613;15713436;16115862;16140933;16141059;16160013;16284618;16778766;17052452;17146433;17245413;17595167;17693683;18337750;18377426;18625844;19239894;19276069;19558367;20068231;20112406;20352051;20531387;21278420;21976065;21981923;21984185;22252318;22367759;22544926;22898188;22977175;23186163;23236473;23301498;23481700;23644599;24366607;24397554;24714562;24715725;25418920;25480299;25505266;25576301;25645385;25810538;25880248;25892735;26027925;26154972;26375851;26489469;26728094;26758079;26768311;26811146;26929215;26992070;27342281;27397612;27558897;27600516;27655845;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28657654;28832583;28834231;28855257;28860189;28904123;29237092;29242379;29331515;29351928;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30059200;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31006510;31006513;31092671;31154438;31217245;31222486;31492838;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32354837;32357974;32387766;32488085;32502341;32502391;32553196;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34561969;34647228;34725712;34846842;34932366;35051231;35132862;35138101;35154160;35251023;35254053;35318648;35513511;35561310;35580925;36010968;36215666;36240223;36241641;36284347;36581221;37340703;37541260;37818768;37846490;37938771;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;41350704;8944033;9099687;9184226;9671765;9712883", "class_list": "", "function": "CCR4-NOT differentially controls host versus virus poly(a)-tail length and regulates HCMV infection., [RefSeq, PubMed]; Purification and characterization of 1.0 MDa yeast CCR4-NOT complex identifies two novel components, CAF40 and CAF130: yeast CAF40 binds human NOT1, [RefSeq, PubMed]; Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins mediating the complex recruitment to selected mRNA 3'UTRs. Involved in degradation of AU-rich element (ARE)-containing mRNAs probably via association with ZFP36. Mediates the recruitment of the CCR4-NOT complex to miRNA targets and to the RISC complex via association with TNRC6A, TNRC6B or TNRC6C. Acts as a transcriptional repressor. Represses the ligand-dependent transcriptional activation by nuclear receptors. Involved in the maintenance of embryonic stem (ES) cell identity. Plays a role in rapid sperm motility via mediating timely mRNA turnover (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Vissers-Bodmer syndrome caused by a novel de novo CNOT1 frameshift variant., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 22, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 62, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "Q68DX7;Q7Z3K2;Q8IWB8;Q8TB53;Q9BVZ6;Q9UFR8;Q9UI27;Q9Y2L0", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003723 RNA binding;GO:0019904 protein domain specific binding;GO:0030331 nuclear estrogen receptor binding;GO:0042974 nuclear retinoic acid receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0001829 trophectodermal cell differentiation;GO:0017148 negative regulation of translation;GO:0060213 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening", "synthesized_glycan_count": 0, "hit_score": 23.2, "record_id": "A5YKK6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14579-1", "uniprot_id": [ { "id": "COPE_HUMAN", "url": "https://www.uniprot.org/uniprot/O14579", "type": "external" } ], "mass": 34482.0, "length": 308, "protein_name": "Coatomer subunit epsilon", "gene_name": "COPE", "organism": "Human", "refseq_name": "coatomer subunit epsilon isoform a", "refseq_ac": [ { "id": "NP_009194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009194", "type": "external" } ], "gene_names_uniprotkb": "COPE", "gene_names_refseq": "COPE; epsilon-COP", "protein_names_uniprotkb": "Coatomer subunit epsilon; Epsilon-COP; Epsilon-coat protein", "protein_names_refseq": "COPI coat complex subunit epsilon; coatomer epsilon subunit; coatomer protein complex subunit epsilon; coatomer subunit epsilon isoform a; coatomer subunit epsilon; epsilon coat protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:11316); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 221, "publication_id_list": "10052452;10318838;10445031;10469566;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11230166;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12634853;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;17451557;17721809;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18524849;18669648;18691976;18809720;1898986;18991276;19015319;19109418;19151722;19164740;19296914;19369418;1957170;19631211;19758564;20005805;20068231;20136777;20166139;20237496;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;22013193;22094269;22299025;22304919;22424782;22645359;22706990;23186163;23396477;23481700;23839779;24119662;24275569;24366607;24397554;24714562;24715725;24806965;25364732;25418920;25436559;25492864;25576301;25645385;25880248;26154972;26375851;26728094;26811146;26929215;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;30779550;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38665916;40914422;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated with ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NE29;A6NKA3;O76097;Q6IBB8;Q9UGP6", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0030133 transport vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006891 intra-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "O14579-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95347-1", "uniprot_id": [ { "id": "SMC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95347", "type": "external" } ], "mass": 135656.0, "length": 1197, "protein_name": "Structural maintenance of chromosomes protein 2", "gene_name": "SMC2", "organism": "Human", "refseq_name": "structural maintenance of chromosomes protein 2", "refseq_ac": [ { "id": "NP_001036015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036015", "type": "external" } ], "gene_names_uniprotkb": "SMC2; CAPE; PRO0324; SMC2L1", "gene_names_refseq": "CAP-E; CAPE; SMC-2; SMC2L1; SMC2", "protein_names_uniprotkb": "Structural maintenance of chromosomes protein 2; Chromosome-associated protein E; SMC protein 2; SMC-2; XCAP-E homolog; hCAP-E", "protein_names_refseq": "SMC protein 2; SMC2 (structural maintenance of chromosomes 2, yeast)-like 1; XCAP-E homolog; structural maintenance of chromosomes (SMC) family member, chromosome-associated protein E; structural maintenance of chromosomes protein 2", "tax_id": 9606, "disease": "colon adenocarcinoma (Disease Ontology:DOID:234); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:10592); (R-HSA-2299718); (R-HSA-2514853)", "pathway_count": 3, "publication_count": 108, "publication_id_list": "10958694;11136719;11237011;12086618;12208845;14607834;14660695;15146063;15572404;15750587;17066080;17356064;18211953;18367646;18718915;18977199;19481522;19608861;19691289;20068231;20551165;20551166;20622854;20966048;21498573;21515671;21911480;23301498;23498719;23728299;24366607;24714562;24715725;25576301;25810538;26154972;26811146;26992070;27846572;27862975;27920218;28228285;28832583;28904123;29242379;29314611;29393594;29437277;29493099;29557506;30315122;30379171;30397120;30410026;30429286;30620550;30794721;31217245;31844290;31986889;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35251023;35289036;35318648;35561310;35580925;36010968;36215666;36241641;36581221;37938771;38253038;38665916;38729325;40914422;9774278;9789013", "class_list": "", "function": "Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases., [UniProtKB, PubMed]; Rs3818626 and rs9895829 were significantly associated with SMC2 and TP53 messenger RNA expression., [RefSeq, PubMed]; SMC2 knockdown inhibits malignant progression of lung adenocarcinoma by upregulating BTG2 expression., [RefSeq, PubMed]; Structural maintenance of chromosomes 2 is identified as an oncogene in bladder cancer in vitro and in vivo., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6IEE0;Q9P1P2", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:1905820 positive regulation of chromosome separation;GO:0051984 positive regulation of chromosome segregation;GO:0051301 cell division;GO:0021987 cerebral cortex development;GO:0007076 mitotic chromosome condensation", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "O95347-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVT2-1", "uniprot_id": [ { "id": "SIM36_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVT2", "type": "external" } ], "mass": 10135.0, "length": 93, "protein_name": "Small integral membrane protein 36", "gene_name": "SMIM36", "organism": "Human", "refseq_name": "small integral membrane protein 36", "refseq_ac": [ { "id": "NP_001382350", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382350", "type": "external" } ], "gene_names_uniprotkb": "SMIM36", "gene_names_refseq": "SMIM36", "protein_names_uniprotkb": "Small integral membrane protein 36", "protein_names_refseq": "small integral membrane protein 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:101927367)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1B0GVT2-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJI1-1", "uniprot_id": [ { "id": "CK086_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJI1", "type": "external" } ], "mass": 13172.0, "length": 115, "protein_name": "Uncharacterized protein C11orf86", "gene_name": "C11orf86", "organism": "Human", "refseq_name": "uncharacterized protein C11orf86 isoform 2", "refseq_ac": [ { "id": "NP_001129957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129957", "type": "external" } ], "gene_names_uniprotkb": "C11orf86", "gene_names_refseq": "C11orf86; FACI", "protein_names_uniprotkb": "Uncharacterized protein C11orf86", "protein_names_refseq": "fasting and CREB-H induced; uncharacterized protein C11orf86 isoform 2; uncharacterized protein C11orf86", "tax_id": 9606, "disease": "", "pathway": " (hsa:254439)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NJI1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15247-1", "uniprot_id": [ { "id": "CLIC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15247", "type": "external" } ], "mass": 28356.0, "length": 247, "protein_name": "Chloride intracellular channel protein 2", "gene_name": "CLIC2", "organism": "Human", "refseq_name": "chloride intracellular channel protein 2", "refseq_ac": [ { "id": "NP_001280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280", "type": "external" } ], "gene_names_uniprotkb": "CLIC2", "gene_names_refseq": "CLCNL2; CLIC2b; CLIC2; MRXS32; XAP121", "protein_names_uniprotkb": "Chloride intracellular channel protein 2; 1.11.1.-; 1.8.-.-; Glutaredoxin-like oxidoreductase CLIC2; Glutaredoxin-like peroxidase CLIC2; XAP121", "protein_names_refseq": "chloride intracellular channel 2; chloride intracellular channel protein 2; glutaredoxin-like oxidoreductase CLIC2; glutaredoxin-like peroxidase CLIC2", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); Parkinson's disease (Disease Ontology:DOID:14330); hypothyroidism (Disease Ontology:DOID:1459); alcohol use disorder (Disease Ontology:DOID:1574); bipolar disorder (Disease Ontology:DOID:3312); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:1193); (R-HSA-2672351); (R-HSA-5578775)", "pathway_count": 3, "publication_count": 157, "publication_id_list": "10220561;10564087;10642508;10720933;10767424;10830164;10831588;10913253;11062458;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11904675;11956057;12119109;12393854;12681486;12832055;12907679;12953268;1379744;14584882;14634667;15010458;15044642;15147738;15174025;15260953;15318163;15504734;15505377;15598648;15754088;15916532;15919655;16219661;16754674;16813530;16849430;16850186;1693919;17224452;17357072;17381423;17448995;17486119;17699613;17881003;17945253;18000046;18007051;18063579;18186468;18310267;18400985;18449189;18508966;18662336;18724360;18995841;19153159;19278978;19307298;19380724;19387438;19620632;19751721;19808995;19953639;20388639;20388710;20466723;20525693;20538786;21040849;21108950;21527911;21984732;22002868;22210847;2226863;22427649;22707725;22773952;22814392;22946059;22972900;2298749;23112050;2321095;23362265;23549614;23610579;23616951;2430951;2477373;2536303;25581026;2559024;25994790;26359375;26562072;27846572;27862975;28071645;28154142;28228285;2838329;28645727;28790369;28832583;29198705;29242379;29393594;2953725;29557506;30379171;30429286;30573663;31154438;31844290;32983136;33043033;33392160;33912179;33936100;33968037;34229297;35580925;6328127;7588753;7665160;7702581;7795595;7929371;8041726;8112288;8383669;8533761;8544406;8626462;8798450;8809036;8918259;9037075;9339381;9346285;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "A vital role for the CLIC2 protein in maintaining normal cognitive function via its interaction with RyRs in the brain., [RefSeq, PubMed]; Chloride intracellular channel protein 2 is secreted and inhibits MMP14 activity, while preventing tumor cell invasion and metastasis., [RefSeq, PubMed]; Human CLIC2 was crystallized in 2 different forms, in presence of GSSH. Form A displayed P2(1)2(1)2(1) symmetry, with unit-cell parameters a=44.0, b=74.7, c=79.8 A. Form B displayed P2(1) symmetry, with unit-cell parameters a=36.0, b=66.9, c=44.1 A., [RefSeq, PubMed]; In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor. Displays weak glutathione peroxidase activity (Probable) (PubMed:25581026). Can insert into membranes and form chloride ion channels. Membrane insertion seems to be redox-regulated and may occur only under oxidizing conditions. Modulates the activity of RYR2 and inhibits calcium influx., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]., [RefSeq]; We have determined the crystal structure of soluble Clic2 from the euryhaline teleost fish Oreochromis mossambicus. Structural comparison of tilapia and human CLIC2 with other CLICs shows that these proteins are highly conserved., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K9S0;O15174;Q5JT80;Q8TCE3", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "1.11.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.12", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "1.14.11.16", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.16", "type": "external" } ], "go_molecular_function": "GO:0005254 chloride channel activity;GO:0004602 glutathione peroxidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0006821 chloride transport;GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "O15247-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8K830-5", "uniprot_id": [ { "id": "OCAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/A8K830", "type": "external" } ], "mass": 27417.0, "length": 251, "protein_name": "POU class 2 homeobox associating factor 3", "gene_name": "POU2AF3", "organism": "Human", "refseq_name": "POU class 2 homeobox associating factor 3 isoform 2", "refseq_ac": [ { "id": "NP_001129577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129577", "type": "external" } ], "gene_names_uniprotkb": "POU2AF3; C11orf93; CASC13; COLCA2", "gene_names_refseq": "C11orf93; CASC13; COLCA2; LOH11CR1G; OCA-T2; POU2AF3", "protein_names_uniprotkb": "POU class 2 homeobox associating factor 3; Cancer susceptibility candidate protein 13; Colorectal cancer-associated protein 2; Protein OCA-T2", "protein_names_refseq": "POU class 2 homeobox associating factor 3 isoform 2; cancer susceptibility candidate 13; cancer susceptibility candidate protein 13; colorectal cancer associated 2; colorectal cancer associated two; colorectal cancer-associated protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:120376)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "18753146;19240061;21071539;24154973;33633225;35576971;36253350;39894887", "class_list": "", "function": "COLCA2 (POU2AF3) and likely C11orf53 (POU2AF2) function as transcriptional co-activators of POU2F3 in tuft cell-like small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Data implicate COLCA1 and COLCA2 in the pathogenesis of colon cancer., [RefSeq, PubMed]; OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; Rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional coactivator that specifically associates with POU2F3 (PubMed:35576971). This complex drives the development of tuft cells, a rare a rare chemosensory cells that coordinate immune and neural functions within mucosal epithelial tissues (PubMed:35576971)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PMJ8;Q2TBJ3;V5LD62;V5LDI3;V5LDV1;V5LE09;V5LEU3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0070974 POU domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A8K830-5", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43734-1", "uniprot_id": [ { "id": "CIKS_HUMAN", "url": "https://www.uniprot.org/uniprot/O43734", "type": "external" } ], "mass": 64666.0, "length": 574, "protein_name": "E3 ubiquitin ligase TRAF3IP2", "gene_name": "TRAF3IP2", "organism": "Human", "refseq_name": "E3 ubiquitin ligase TRAF3IP2 isoform 3", "refseq_ac": [ { "id": "NP_001157753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157753", "type": "external" } ], "gene_names_uniprotkb": "TRAF3IP2; C6orf2; C6orf4; C6orf5; C6orf6", "gene_names_refseq": "ACT1; C6orf2; C6orf4; C6orf5; C6orf6; CANDF8; CIKS; PSORS13; TRAF3IP2", "protein_names_uniprotkb": "E3 ubiquitin ligase TRAF3IP2; 2.3.2.27; ACT1; Adapter protein CIKS; Connection to IKK and SAPK/JNK; E3 ubiquitin-protein ligase CIKS; Nuclear factor NF-kappa-B activator 1; TRAF3-interacting protein 2", "protein_names_refseq": "E3 ubiquitin ligase TRAF3IP2 isoform 3; E3 ubiquitin ligase TRAF3IP2; E3 ubiquitin-protein ligase CIKS; NFkB-activating protein ACT1; adapter protein CIKS; connection to IKK and SAPK/JNK; nuclear factor NF-kappa-B activator 1", "tax_id": 9606, "disease": "psoriasis 13 (Disease Ontology:DOID:0111287); Sjogren's syndrome (Disease Ontology:DOID:12894); chronic mucocutaneous candidiasis (Disease Ontology:DOID:2058); atopic dermatitis (Disease Ontology:DOID:3310); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:10758)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10903453;10962024;10962033;11237011;12089335;12163033;12459498;19825828;20953186;20953188;21822257;22581863;23481700;24120361;25505266;25576301;25645385;26154972;26992070;27503676;27600516;27846572;28218747;28228285;28832583;28834231;29242379;29493099;29508533;29557506;29632711;29671580;29786170;30315122;30429286;30779550;31154438;31217245;31530632;31844290;31848261;32157095;32488085;32502341;32897882;33141586;33298915;33592498;33717175;33723527;33912179;33936100;33968037;33981976;34087483;35051231;35441794;35580925;35642993;36241641;36544242;36978108", "class_list": "", "function": "A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients., [RefSeq, PubMed]; AlphaCT1 peptide sensitizes glioma cells to temozolomide in a glioblastoma organoid platform., [RefSeq, PubMed]; Data indicate that the newly identified alternatively spliced Act1 is a major transcript of the molecule and that Act1 may play important roles in oncogenesis., [RefSeq, PubMed]; E3 ubiquitin ligase that catalyzes 'Lys-63'-linked polyubiquitination of target protein, enhancing protein-protein interaction and cell signaling (PubMed:19825828). Transfers ubiquitin from E2 ubiquitin-conjugating enzyme UBE2V1-UBE2N to substrate protein (PubMed:19825828). Essential adapter molecule in IL17A-mediated signaling (PubMed:19825828, PubMed:24120361). Upon IL17A stimulation, interacts with IL17RA and IL17RC receptor chains through SEFIR domains and catalyzes 'Lys-63'-linked polyubiquitination of TRAF6, leading to TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways (PubMed:19825828)., [UniProtKB, PubMed, PubMed, PubMed]; Endogenous Act1 is recruited to the CD40 receptor in human intestinal (HT29) and cervical (HeLa) epithelial cells upon stimulation with CD40 ligand, indicating that Act1 is involved in this signaling pathway., [RefSeq, PubMed]; NF-kappaB Activator 1 downregulation in macrophages activates STAT3 to promote adenoma-adenocarcinoma transition and immunosuppression in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TRAF3IP2 regulated by FOXO4 affects fibroblast proliferation, migration, and extracellular matrix deposition in keloid through the TGF-beta1/Smad pathway., [RefSeq, PubMed]; This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 8796, "biomarker_type": "", "glycan_count": 6, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RAY9;E1P555;Q5R3A3;Q7Z6Q1;Q7Z6Q2;Q7Z6Q3;Q9H5W2;Q9H6Y3;Q9NS14;Q9UG72", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0031234 extrinsic component of cytoplasmic side of plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:0032754 positive regulation of interleukin-5 production;GO:0023035 CD40 signaling pathway;GO:0006954 inflammatory response;GO:0007507 heart development", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "O43734-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75508-1", "uniprot_id": [ { "id": "CLD11_HUMAN", "url": "https://www.uniprot.org/uniprot/O75508", "type": "external" } ], "mass": 21993.0, "length": 207, "protein_name": "Claudin-11", "gene_name": "CLDN11", "organism": "Human", "refseq_name": "claudin-11 isoform 1", "refseq_ac": [ { "id": "NP_005593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005593", "type": "external" } ], "gene_names_uniprotkb": "CLDN11; OSP; OTM", "gene_names_refseq": "CLDN11; HLD22; OSP; OTM", "protein_names_uniprotkb": "Claudin-11; Oligodendrocyte-specific protein", "protein_names_refseq": "claudin-11 isoform 1; oligodendrocyte transmembrane protein; oligodendrocyte-specific protein", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 22 (Disease Ontology:DOID:0070402)", "pathway": " (hsa:5010); (R-HSA-420029)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10700007;11447115;11964389;12953056;16129888;20375010;29557506;30429286;30734065;31154438;31844290;32157095;33313762;33971623;36662163;38665916", "class_list": "", "function": "De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. Erratum:[Brain. 2021 Jun 22;144(5):e48. doi: 10.1093/brain/awab034. PMID: 33991082], [RefSeq, PubMed]; MiR-205 suppressed the malignant behaviors of breast cancer cells by targeting CLDN11 via modulation of the epithelial-to-mesenchymal transition., [RefSeq, PubMed]; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity., [UniProtKB, PubMed]; Serum claudin-5, claudin-11, occludin, vinculin, paxillin, and beta-catenin levels in preschool children with autism spectrum disorder., [RefSeq, PubMed]; This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7C1;D3DNQ5;Q5U0P3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0030054 cell junction;GO:0030424 axon;GO:0045178 basal part of cell", "go_biological_process": "GO:0120192 tight junction assembly;GO:0007155 cell adhesion;GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "O75508-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95500-1", "uniprot_id": [ { "id": "CLD14_HUMAN", "url": "https://www.uniprot.org/uniprot/O95500", "type": "external" } ], "mass": 25699.0, "length": 239, "protein_name": "Claudin-14", "gene_name": "CLDN14", "organism": "Human", "refseq_name": "claudin-14", "refseq_ac": [ { "id": "NP_001139549", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139549", "type": "external" } ], "gene_names_uniprotkb": "CLDN14; PRO1571", "gene_names_refseq": "CLDN14; DFNB29", "protein_names_uniprotkb": "Claudin-14", "protein_names_refseq": "claudin-14", "tax_id": 9606, "disease": "lethal congenital contracture syndrome (Disease Ontology:DOID:0060558); autosomal recessive nonsyndromic deafness 29 (Disease Ontology:DOID:0110487); ureteral obstruction (Disease Ontology:DOID:5199)", "pathway": " (hsa:23562); (R-HSA-420029)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "11163249;11447115;11964389;12791041;12953056;12975309;16129888;22246673;23235333;23590985;29242379;29485866;33968037;35546405;36241641;38942107;39162877", "class_list": "", "function": "Diabetes compromises tight junction protein claudin 14 in the urinary bladder., [RefSeq, PubMed]; Downregulation of chemoresistance by claudin-14 silencing in human colorectal cancer cells., [RefSeq, PubMed]; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity., [UniProtKB]; The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation. Publication Status: Online-Only, [RefSeq, PubMed]; Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "O95500-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02461-1", "uniprot_id": [ { "id": "CO3A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P02461", "type": "external" } ], "mass": 138564.0, "length": 1466, "protein_name": "Collagen alpha-1(III) chain", "gene_name": "COL3A1", "organism": "Human", "refseq_name": "collagen alpha-1(III) chain preproprotein", "refseq_ac": [ { "id": "NP_000081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081", "type": "external" } ], "gene_names_uniprotkb": "COL3A1", "gene_names_refseq": "COL3A1; EDS4A; EDSVASC; PMGEDSV", "protein_names_uniprotkb": "Collagen alpha-1(III) chain", "protein_names_refseq": "Ehlers-Danlos syndrome type IV, autosomal dominant; alpha-1 type III collagen; alpha1 (III) collagen; collagen alpha-1(III) chain preproprotein; collagen alpha-1(III) chain; collagen, fetal; collagen, type III, alpha 1", "tax_id": 9606, "disease": "rheumatic heart disease (Disease Ontology:DOID:0050827); renal fibrosis (Disease Ontology:DOID:0050855); pleurisy (Disease Ontology:DOID:10247); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); dilated cardiomyopathy (Disease Ontology:DOID:12930); Ehlers-Danlos syndrome (Disease Ontology:DOID:13359); bladder neck obstruction (Disease Ontology:DOID:13948); vascular type Ehlers-Danlos syndrome (Disease Ontology:DOID:14756); Ehlers-Danlos syndrome hypermobility type (Disease Ontology:DOID:14757); epilepsy (Disease Ontology:DOID:1826); asthma (Disease Ontology:DOID:2841); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); systemic scleroderma (Disease Ontology:DOID:418); rhinitis (Disease Ontology:DOID:4483); pancreatitis (Disease Ontology:DOID:4989); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); lung disease (Disease Ontology:DOID:850); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (MONDO:MONDO:0032688)", "pathway": " (hsa:1281); (R-HSA-1442490); (R-HSA-1566977); (R-HSA-1650814); (R-HSA-186797); (R-HSA-198933); (R-HSA-2022090); (R-HSA-216083); (R-HSA-3000170); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-3000480); (R-HSA-419037); (R-HSA-8874081); (R-HSA-8948216); (R-HSA-9925563)", "pathway_count": 16, "publication_count": 455, "publication_id_list": 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"class_list": "", "function": "COL3A1 is a potential diagnostic biomarker for synovial chondromatosis and affects the cell cycle and migration of chondrocytes., [RefSeq, PubMed]; COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset of biliary atresia., [RefSeq, PubMed]; COL3A1-positive endothelial cells influence LUAD prognosis and regulate LUAD carcinogenesis by NCL-PI3K-AKT axis., [RefSeq, PubMed]; Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12., [UniProtKB]; Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome., [RefSeq, PubMed]; This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 25, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "D2JYH5;D3DPH4;P78429;Q15112;Q16403;Q53S91;Q541P8;Q6LDB3;Q6LDJ2;Q6LDJ3;Q7KZ56;Q8N6U4;Q9UC88;Q9UC89;Q9UC90;Q9UC91;R4N3C5;V9GZI1", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0005178 integrin binding;GO:0046872 metal ion binding;GO:0046332 SMAD binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005586 collagen type III trimer", "go_biological_process": "GO:0001701 in utero embryonic development;GO:0007229 integrin-mediated signaling pathway;GO:0007507 heart development;GO:0001764 neuron migration;GO:0001894 tissue homeostasis", "synthesized_glycan_count": 0, "hit_score": 48.8, "record_id": "P02461-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NM45-1", "uniprot_id": [ { "id": "CLD24_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NM45", "type": "external" } ], "mass": 24421.0, "length": 220, "protein_name": "Claudin-24", "gene_name": "CLDN24", "organism": "Human", "refseq_name": "claudin-24", "refseq_ac": [ { "id": "NP_001172078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001172078", "type": "external" } ], "gene_names_uniprotkb": "CLDN24; CLDN21", "gene_names_refseq": "CLDN21; CLDN24", "protein_names_uniprotkb": "Claudin-24; Claudin-21", "protein_names_refseq": "Putative claudin-24; claudin 21; claudin-24", "tax_id": 9606, "disease": "", "pathway": " (hsa:100132463)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12736707;24715725;28832583;32350084", "class_list": "", "function": "CLDN21, clustered with CLDN22 at human chromosome 4q35.1, is a four-transmembrane protein with WWCC motif, defined by W-X(17-22)-W-X(2)-C-X(8-10)-C., [RefSeq, PubMed]; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity., [UniProtKB]; This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is 75% identical to the mouse homolog. This gene is upstream of the CLDN22 gene, which overlaps the WWC2 gene on the opposite strand in the genome.[provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "F5H040", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NM45-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00395-1", "uniprot_id": [ { "id": "COX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P00395", "type": "external" } ], "mass": 57041.0, "length": 513, "protein_name": "Cytochrome c oxidase subunit 1", "gene_name": "MT-CO1", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit I", "refseq_ac": [ { "id": "YP_003024028", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024028", "type": "external" } ], "gene_names_uniprotkb": "MT-CO1; COI; COXI; MTCO1", "gene_names_refseq": "COI; COX1; MTCO1", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 1; 7.1.1.9; Cytochrome c oxidase polypeptide I", "protein_names_refseq": "cytochrome c oxidase subunit I", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 1 (Disease Ontology:DOID:0070491); myoglobinuria (Disease Ontology:DOID:0080108); Parkinsonism (Disease Ontology:DOID:0080855); mitochondrial nonsyndromic sensorineural deafness (Disease Ontology:DOID:0111751); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); hepatocellular carcinoma (Disease Ontology:DOID:684); Leber hereditary optic neuropathy (Disease Ontology:DOID:705); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:4512); (R-HSA-5419276); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9837999); (R-HSA-9864848)", "pathway_count": 7, "publication_count": 211, "publication_id_list": "10327278;10329961;10577941;10716435;10745013;10980602;10980727;11029283;11034341;11130070;11340051;11486029;11545734;11695836;11923310;11959846;12140182;12161445;12198491;12203114;12231006;12438239;12453409;12714747;12837546;12840039;12869586;12906785;12949126;12969439;1322638;1327877;13298683;13538944;14623864;14651849;14741580;14760490;15105503;15223;15250827;15522782;15589136;15870080;16115876;16140933;16230336;16284789;16407113;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17101804;17264172;17297443;17298220;17486094;17540029;1757091;17579211;17803939;18198340;18344994;18429816;186667;18692468;18782833;19113821;19218458;19439913;19487573;19503089;19690164;19716793;19822145;19841671;19968714;20080666;20182617;20186120;20351271;20378837;20929863;21750704;21958598;22172991;22262461;22342701;22363791;22427940;22710082;23125284;23150584;23201127;23260140;23270816;23345593;23564345;23746447;23747254;23775793;23931759;239860;24066844;24315374;24366874;24383451;24403053;24520911;24715725;24718924;25233460;25505266;25564869;25576301;25579166;25880248;25926683;25959673;26154972;26321642;26504172;26652033;26923599;26992070;27496948;27642048;27693358;27846572;27862975;28082314;28199844;28330871;28377575;28396416;28510447;28698372;28844695;28904123;29154948;29301859;29351928;29437277;29493099;29557506;29932645;30030519;30120231;30410026;30429286;31217245;31327635;31536960;31611695;31695197;32157095;32317297;32357974;32375044;32387766;32488085;32502341;32938616;32983136;33141586;33257573;33298915;33691108;33717175;33912179;33968037;3427020;34357683;34509645;34704252;3475708;34932366;34943861;34969438;35051231;35318648;35580925;35750769;35870450;36010968;36241641;36284347;36302763;36581221;36596788;36629048;37141370;4288886;5666113;6094553;6260957;7219534;7530363;7623837;7979252;7989588;8119488;9389715;9843204;9851701;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q34770", "ec_number_list": [ { "id": "7.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.9", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.29", "type": "external" }, { "id": "1.17.99.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.17.99.9", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0004129 cytochrome-c oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0001666 response to hypoxia;GO:0046688 response to copper ion;GO:0051602 response to electrical stimulus;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "P00395-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49759-1", "uniprot_id": [ { "id": "CLK1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49759", "type": "external" } ], "mass": 57291.0, "length": 484, "protein_name": "Dual specificity protein kinase CLK1", "gene_name": "CLK1", "organism": "Human", "refseq_name": "dual specificity protein kinase CLK1 isoform 2", "refseq_ac": [ { "id": "NP_001155879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155879", "type": "external" } ], "gene_names_uniprotkb": "CLK1; CLK", "gene_names_refseq": "CLK/STY; CLK1; CLK; STY", "protein_names_uniprotkb": "Dual specificity protein kinase CLK1; 2.7.12.1; CDC-like kinase 1", "protein_names_refseq": "CDC28/CDC2-like kinase; dual specificity protein kinase CLK1 isoform 2; dual specificity protein kinase CLK1; protein tyrosine kinase STY", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1195)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10480872;11237011;12705895;14759258;1704889;17081983;17344846;18452278;18669648;18691976;19168442;19369195;20068231;23186163;24366607;24715725;25576301;25880248;26154972;27846572;27920218;28904123;29242379;29351928;29493099;29557506;30379171;30429286;31154438;31530632;31844290;31848261;32157095;32161166;32333232;32357974;32359191;32488085;32502341;32897882;32938616;32983136;33592498;33691108;33717175;33811140;33912179;33968037;33981976;34087483;35051231;35494241;35580925;37607329;40596516;7990150", "class_list": "", "function": "A conserved sequence motif bridges two protein kinases for enhanced phosphorylation and nuclear function of a splicing factor., [RefSeq, PubMed]; CLK1 reorganizes the splicing factor U1-70K for early spliceosomal protein assembly., [RefSeq, PubMed]; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates: SRSF1, SRSF3 and PTPN1 (PubMed:10480872, PubMed:19168442). Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells (PubMed:19168442)., [UniProtKB, PubMed, PubMed]; Functions of SRPK, CLK and DYRK kinases in stem cells, development, and human developmental disorders. Review article, [RefSeq, PubMed]; Phosphoproteomic analysis identifies CLK1 as a novel therapeutic target in gastric cancer., [RefSeq, PubMed]; This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DFW7;Q0P694;Q8N5V8", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0004712 protein serine/threonine/tyrosine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031965 nuclear membrane", "go_biological_process": "GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P49759-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02930-1", "uniprot_id": [ { "id": "CREB5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02930", "type": "external" } ], "mass": 56918.0, "length": 508, "protein_name": "Cyclic AMP-responsive element-binding protein 5", "gene_name": "CREB5", "organism": "Human", "refseq_name": "cyclic AMP-responsive element-binding protein 5 isoform delta", "refseq_ac": [ { "id": "NP_001011666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011666", "type": "external" } ], "gene_names_uniprotkb": "CREB5; CREBPA", "gene_names_refseq": "CRE-BPA; CREB-5; CREB5; CREBPA", "protein_names_uniprotkb": "Cyclic AMP-responsive element-binding protein 5; CRE-BPa; CREB-5; cAMP-response element-binding protein A; cAMP-responsive element-binding protein 5", "protein_names_refseq": "cAMP response element-binding protein CRE-BPa; cAMP-response element-binding protein A; cyclic AMP-responsive element-binding protein 5 isoform delta; cyclic AMP-responsive element-binding protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:9586)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;19054851;20068231;23481700;24715725;25076032;25418920;25576301;26154972;28218747;28228285;28904123;29242379;29393594;29437277;29632046;30315122;30410026;31092671;31154438;31217245;31530632;31844290;31998317;32157095;32265295;32488085;32897882;32983136;33298915;33592498;33968037;34405274;34561969;36010968;37996058;38424407;38547657;38549717;38665916;39015025;8378084;8440710", "class_list": "", "function": "Binds to the cAMP response element and activates transcription., [UniProtKB, PubMed]; CREB5 accelerate the metastasis of colorectal cancer by regulating these five key genes., [RefSeq, PubMed]; Dysregulation of CREB5 Impairs Decidualization and Maternal-Fetal Interactions by Inhibiting Autophagy in Recurrent Spontaneous Abortion., [RefSeq, PubMed]; Identification of CREB5 as a prognostic and immunotherapeutic biomarker in glioma through multi-omics pan-cancer analysis., [RefSeq, PubMed]; Plasma microRNA-320c as a Potential Biomarker for the Severity of Knee Osteoarthritis and Regulates cAMP Responsive Element Binding Protein 5 (CREB5) in Chondrocytes. Publication Status: Online-Only, [RefSeq, PubMed]; RGS1 and CREB5 are direct and common transcriptional targets of ZNF384-fusion proteins., [RefSeq, PubMed]; SPOP promotes CREB5 ubiquitination to inhibit MET signaling in liver cancer., [RefSeq, PubMed]; The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8KA51;B4DU13;B5BUH3;C9JK47;Q05886;Q06246;Q75N02;Q86UJ9", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0035497 cAMP response element binding", "go_cellular_component": "GO:0005634 nucleus;GO:0070062 extracellular exosome;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q02930-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZN8-1", "uniprot_id": [ { "id": "CNOT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZN8", "type": "external" } ], "mass": 59738.0, "length": 540, "protein_name": "CCR4-NOT transcription complex subunit 2", "gene_name": "CNOT2", "organism": "Human", "refseq_name": "CCR4-NOT transcription complex subunit 2 isoform a", "refseq_ac": [ { "id": "NP_001186231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186231", "type": "external" } ], "gene_names_uniprotkb": "CNOT2; CDC36; HSPC131; MSTP046; NOT2", "gene_names_refseq": "CDC36; CNOT2; HSPC131; IDNADFS; NOT2H; NOT2", "protein_names_uniprotkb": "CCR4-NOT transcription complex subunit 2; CCR4-associated factor 2", "protein_names_refseq": "CC chemokine receptor 4-negative regulator of transcription 2; CCR4-NOT transcription complex subunit 2 isoform a; CCR4-associated factor 2; negative regulator of transcription 2", "tax_id": 9606, "disease": "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies (MONDO:MONDO:0032832)", "pathway": " (hsa:4848); (R-HSA-429947); (R-HSA-6804115); (R-HSA-9820841)", "pathway_count": 4, "publication_count": 141, "publication_id_list": "10.1101/2023.09.13.557529;10637334;10882133;11237011;11283721;11814693;11889047;11896574;12897130;1355481;14583602;14707134;14749774;14968113;15475613;15713436;16039607;16140933;16141059;16160013;16284618;16712523;17052452;17146433;17245413;17322306;17525332;17595167;18077418;18337750;18625844;18669648;18691976;18707149;19239894;19276069;19413330;19415658;19558367;19651622;19664994;19664995;19690332;20068231;20112406;20352051;20531387;21299754;21406692;22252318;22367759;23186163;23236473;23301498;24275569;24715725;25418920;25480299;25576301;25880248;25892735;26154972;26992070;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29769354;30059200;30315122;30379171;30429286;30484775;31145527;31217245;31512373;31844290;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32502391;32574038;32897882;32938616;32983136;33141586;33214551;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33981976;34018673;34019948;34087483;34185709;34561969;34647228;34680125;34932366;35051231;35132862;35138101;35251023;35254053;35289036;35513511;35580925;36010968;36240223;36241641;36284347;37541260;37938771;38253038;38665916;39302247;39531497;39534244;8944033;9099687;9184226;9671765;9712883", "class_list": "", "function": "CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures. Review article, [RefSeq, PubMed]; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Required for the CCR4-NOT complex structural integrity. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may specifically involve the N-Cor repressor complex containing HDAC3, NCOR1 and NCOR2. Involved in the maintenance of embryonic stem (ES) cell identity., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Inhibition of CNOT2 Induces Apoptosis via MID1IP1 in Colorectal Cancer Cells by Activating p53. Publication Status: Online-Only, [RefSeq, PubMed]; Major repression function of CNOT2 is localized in a specialized protein motif, the Not-Box, [RefSeq, PubMed]; These findings suggest that CDK11 may contribute to apoptosis by regulating the activity of NOT2 independent of its kinase activity., [RefSeq, PubMed]; This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; This study shows that SMRT/NCoR-HDAC3 complex is a cofactor of CNOT2-mediated repression and suggests that transcriptional regulation by the Ccr4-Not complex involves regulation of chromatin modification., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "Q9H3E0;Q9NSX5;Q9NWR6;Q9P028", "ec_number_list": [], "go_molecular_function": "GO:0003712 transcription coregulator activity;GO:0001222 transcription corepressor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0000932 P-body", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006417 regulation of translation;GO:0001829 trophectodermal cell differentiation", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "Q9NZN8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08686-1", "uniprot_id": [ { "id": "CP21A_HUMAN", "url": "https://www.uniprot.org/uniprot/P08686", "type": "external" } ], "mass": 56001.0, "length": 495, "protein_name": "Steroid 21-hydroxylase", "gene_name": "CYP21A2", "organism": "Human", "refseq_name": "steroid 21-hydroxylase isoform a", "refseq_ac": [ { "id": "NP_000491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491", "type": "external" } ], "gene_names_uniprotkb": "CYP21A2; CYP21B; CYP21", "gene_names_refseq": "CA21H; CAH1; CPS1; CYP21A2; CYP21B; CYP21; P450c21B", "protein_names_uniprotkb": "Steroid 21-hydroxylase; 1.14.14.16; 21-OHase; Cytochrome P-450c21; Cytochrome P450 21; Cytochrome P450 XXI; Cytochrome P450-C21B; Cytochrome P450-C21", "protein_names_refseq": "21-OHase; cytochrome P450 XXI; cytochrome P450, family 21, subfamily A, polypeptide 2; cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2; cytochrome P450-C21B; steroid 21 hydroxylase; steroid 21-hydroxylase isoform a; steroid 21-monooxygenase", "tax_id": 9606, "disease": "congenital adrenal hyperplasia (Disease Ontology:DOID:0050811)", "pathway": " (hsa:1589); (R-HSA-193993); (R-HSA-194002); (R-HSA-211976); (R-HSA-5579021)", "pathway_count": 5, "publication_count": 96, "publication_id_list": "10051010;10094562;10198222;10364682;10391209;10408778;10408786;10443693;10496074;10588945;10602386;10720040;11232002;11237011;11555828;11598371;11600539;11746135;12050257;12213891;12222711;12788866;12832414;12887291;12915679;1406699;1406709;14656967;14676460;14715874;1496017;15042513;15110320;15126570;15623806;16046588;1644925;16984992;1708392;1741400;18319307;18381579;18445671;1864962;1885595;1937474;1944309;19505723;19661213;20080860;20149798;2072928;21169732;21636783;22014889;2243100;2256920;22772592;2303461;23241443;24312389;25855791;2592361;2770297;27721825;28401898;28832583;2889032;29328376;3024157;3038528;3257825;3260007;3267225;3299377;3486422;3487786;3497399;37324257;37553728;37815751;3871526;7195404;7749410;8081391;8478006;8485582;8518786;8619637;8989258;9067760;9187661;9497336;9536209;9578606;9580109", "class_list": "", "function": "A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11-deoxycorticosterone and 11-deoxycortisol, intermediate metabolites in the biosynthetic pathway of mineralocorticoids and glucocorticoids (PubMed:10602386, PubMed:16984992, PubMed:22014889, PubMed:25855791, PubMed:27721825). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:25855791)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease., [RefSeq, PubMed]; Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency., [RefSeq, PubMed]; The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2BHY6;P04033;Q01204;Q08AG8;Q16749;Q16806;Q16874;Q5ST44;Q96NU8", "ec_number_list": [ { "id": "1.14.14.16", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.16", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0005496 steroid binding;GO:0020037 heme binding;GO:0004509 steroid 21-monooxygenase activity;GO:0008395 steroid hydroxylase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0016125 sterol metabolic process;GO:0006694 steroid biosynthetic process;GO:0006704 glucocorticoid biosynthetic process;GO:0006705 mineralocorticoid biosynthetic process;GO:0008202 steroid metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P08686-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVM8-1", "uniprot_id": [ { "id": "SCFD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVM8", "type": "external" } ], "mass": 72380.0, "length": 642, "protein_name": "Sec1 family domain-containing protein 1", "gene_name": "SCFD1", "organism": "Human", "refseq_name": "sec1 family domain-containing protein 1 isoform c", "refseq_ac": [ { "id": "NP_001244305", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244305", "type": "external" } ], "gene_names_uniprotkb": "SCFD1; C14orf163; FKSG23; KIAA0917; STXBP1L2", "gene_names_refseq": "C14orf163; RA410; SCFD1; SLY1P; SLY1; STXBP1L2", "protein_names_uniprotkb": "Sec1 family domain-containing protein 1; SLY1 homolog; Sly1p; Syntaxin-binding protein 1-like 2", "protein_names_refseq": "sec1 family domain-containing protein 1 isoform c; sec1 family domain-containing protein 1; syntaxin-binding protein 1-like 2; vesicle transport-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23256); (R-HSA-204005); (R-HSA-8980692)", "pathway_count": 3, "publication_count": 288, "publication_id_list": "10037681;10232922;10445031;10490598;10523665;10523675;10526156;10559959;10579713;10619026;10679020;10699171;10747087;10788476;10825291;10873388;10903204;10982397;11035026;11058585;11085924;11207612;11237011;11285137;11306556;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;11927603;12070132;12071859;12093360;12195014;12221077;12221096;12235121;12531887;12650940;12665801;12857875;12877655;14512443;15023524;15037235;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16303754;16467373;16495487;16519628;16624868;16630611;16776779;16777452;16777849;16862148;16896804;16912714;16914516;17005010;17038314;17077126;17081983;17192411;17287728;17316621;17322306;17525332;17562788;17562871;17684057;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18452278;18669648;18691976;18767875;18829452;18843296;19164740;19413330;19415658;19494238;19605563;19635168;19638414;19651622;19656848;19664994;19664995;19673492;19713215;20030946;20068231;20101212;20400958;20545907;20591975;20628200;20660154;20679433;20966969;21148482;21351730;21454492;21478858;21532587;21565175;21689688;21699497;21865595;21936715;22013193;22096251;22157747;22223895;22298643;22305756;22544926;22673745;22675024;22911862;22992742;23186163;23200924;23255595;23378591;23434736;23479643;23481700;23572525;23698585;23864707;23870313;24086303;24119662;24128008;24259668;24275569;24335996;24352656;24714562;24917561;24933155;25202031;25211221;25406594;25492864;25586378;25619252;25704760;26154972;26371245;26529257;26887924;26992070;27145964;27216196;27481945;27600516;27846572;27862975;27920218;27986909;28063628;28112683;28196833;28228285;28510447;28584191;28649982;28832583;28834231;28855257;28904123;29146911;29242379;29260601;29351928;29393594;29557506;30315122;30429286;31105010;31217245;31267315;31844290;31848261;31871319;32157095;32203420;32350084;32387766;32488085;32938616;32983136;33141586;33465208;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34229054;34357683;34405274;34509645;34561969;34785650;35051231;35154160;35234271;36010968;36241641;36284347;38665916;40596516;40914422;7479768;7673236;7721814;7753201;8021274;8221884;8537347;8543060;8571126;8617235;8620540;8643598;8649427;8662891;8663406;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9094723;9111050;9113980;9150144;9177194;9305890;9307973;9418861;9490638;9497316;9535835;9548756;9647643;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis., [RefSeq, PubMed]; MTOR-mediated phosphorylation of VAMP8 and SCFD1 regulates autophagosome maturation. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with COG4. Involved in vesicular transport between the endoplasmic reticulum and the Golgi (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SCFD1 rs10139154 is associated with a decreased risk of developing Alzheimer disease., [RefSeq, PubMed]; The found of this study confirmed the lack of association of SCFD1 rs10139154 with the risk for ALS in a large Chinese population., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K2Z5;B7Z4U7;B7Z594;O60754;O94990;Q7Z529;Q9BZI3;Q9UNL3;Q9Y6A8", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0019905 syntaxin binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005798 Golgi-associated vesicle;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:1902902 negative regulation of autophagosome assembly;GO:0051223 regulation of protein transport;GO:0060628 regulation of ER to Golgi vesicle-mediated transport;GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 29.3, "record_id": "Q8WVM8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RY5-1", "uniprot_id": [ { "id": "CRML_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RY5", "type": "external" } ], "mass": 134718.0, "length": 1269, "protein_name": "Protein cramped-like", "gene_name": "CRAMP1", "organism": "Human", "refseq_name": "protein cramped-like", "refseq_ac": [ { "id": "NP_065876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065876", "type": "external" } ], "gene_names_uniprotkb": "CRAMP1; C16orf34; CRAMP1L; HN1L; KIAA1426", "gene_names_refseq": "CRAMP1L; CRAMP1; HN1L; TCE4", "protein_names_uniprotkb": "Protein cramped-like; Cramped chromatin regulator homolog 1; Hematological and neurological expressed 1-like protein", "protein_names_refseq": "Crm, cramped-like; T-complex expressed gene 4; cramped chromatin regulator homolog 1; hematological and neurological expressed 1-like protein; protein cramped-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:57585)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "11237011;18077418;18220336;18669648;19690332;20068231;23186163;24715725;25892735;26992070;27600516;27846572;28228285;28832583;28834231;28904123;29242379;29493099;29557506;29769354;29786170;30315122;30379171;30410026;30524438;30779550;31217245;31844290;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34211107;34509645;35051231;35318648;35580925;36010968;36284347;36581221;37938771;38253038;40516528;40516529", "class_list": "", "function": "Transcription factor, which specifically drives expression of histone H1 genes (PubMed:40516528, PubMed:40516529). Binds to the promoters of H1 genes (H1-2, H1-3, H1-4, H1-5 and H1-10/H1x) together with NPAT and GON4L, positively regulating their transcription (PubMed:40516528, PubMed:40516529)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MZL1;B1AJY1;Q8NDN1;Q9P2C1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome;GO:0035363 histone locus body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0007389 pattern specification process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q96RY5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z624-1", "uniprot_id": [ { "id": "CMKMT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z624", "type": "external" } ], "mass": 36128.0, "length": 323, "protein_name": "Calmodulin-lysine N-methyltransferase", "gene_name": "CAMKMT", "organism": "Human", "refseq_name": "calmodulin-lysine N-methyltransferase", "refseq_ac": [ { "id": "NP_079042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079042", "type": "external" } ], "gene_names_uniprotkb": "CAMKMT; C2orf34; CLNMT", "gene_names_refseq": "C2orf34; CAMKMT; CLNMT; CaM KMT; Cam; KMT", "protein_names_uniprotkb": "Calmodulin-lysine N-methyltransferase; 2.1.1.60; CLNMT; CaM KMT", "protein_names_refseq": "calmodulin-lysine N-methyltransferase", "tax_id": 9606, "disease": "hypotonia-cystinuria syndrome (Disease Ontology:DOID:0060858)", "pathway": " (hsa:79823); (R-HSA-2514859); (R-HSA-8876725)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10037746;10051575;10564809;10676965;11237011;11292825;11601986;11687658;11713293;11754336;12036349;12119397;12499365;12825937;1356371;1379636;1387789;1436039;14702087;15913950;15946941;16118227;16274222;16895762;16908407;17114291;17636946;18234729;18803695;19575798;19818506;1999465;20200953;20430952;20975703;22658984;23285036;23349634;23794250;24397554;25144183;25231979;2540796;25416781;25418920;2550422;2558719;26545399;27920218;28904123;29351928;29393594;29493099;29632046;3006923;30315122;30779550;3164688;31844290;32265295;32357974;32488085;32938616;32983136;33298915;33912179;33981976;35561310;37653170;4772407;6264430;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8494894;8626439;8706659;8812493;9119368;9353336;9430683;9459445;9506952", "class_list": "", "function": "A deletion of C2orf34 causes atypical hypotonia-cystinuria syndrome, [RefSeq, PubMed]; Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the trimethylation of 'Lys-116' in calmodulin., [UniProtKB, PubMed]; Deletion of CAMKMT is associated with Hypotonia-cystinuria syndrome., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The CaM KMT is the major, possibly the single, methyltransferase of calmodulin in human cells with a wide tissue distribution and is a novel Hsp90 client protein., [RefSeq, PubMed]; This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]., [RefSeq]; Two key transcription factors, NRF-2 and YY-1, were further identified to coordinately participate in driving gene expressions of PREPL-C2ORF34 genes pairin an additive manner. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZG15;Q53SS6;Q8N6P5;Q9H5G8", "ec_number_list": [ { "id": "2.1.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.60", "type": "external" } ], "go_molecular_function": "GO:0031072 heat shock protein binding;GO:0018025 calmodulin-lysine N-methyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0006479 protein methylation;GO:0022400 regulation of opsin-mediated signaling pathway;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q7Z624-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07092-1", "uniprot_id": [ { "id": "COGA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07092", "type": "external" } ], "mass": 157751.0, "length": 1604, "protein_name": "Collagen alpha-1(XVI) chain", "gene_name": "COL16A1", "organism": "Human", "refseq_name": "collagen alpha-1(XVI) chain precursor", "refseq_ac": [ { "id": "NP_001847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001847", "type": "external" } ], "gene_names_uniprotkb": "COL16A1; FP1572", "gene_names_refseq": "447AA; COL16A1; FP1572", "protein_names_uniprotkb": "Collagen alpha-1(XVI) chain", "protein_names_refseq": "alpha 1 type XVI collagen; collagen XVI, alpha-1 polypeptide; collagen alpha-1(XVI) chain precursor; collagen alpha-1(XVI) chain; collagen, type XVI, alpha 1", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:1307); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-216083); (R-HSA-8948216)", "pathway_count": 5, "publication_count": 149, "publication_id_list": "10049780;10209034;10366422;10438935;10479448;10543983;10551873;10593924;10605720;10640428;10673366;10713152;10809722;10811134;10934207;10982388;11013208;11119712;11158588;11237011;11518510;11572855;11577169;11713259;11927537;11980922;12473679;12475640;12496264;12579531;12585966;12646579;12682293;12782140;12807887;1284248;1323838;14500733;15005656;15044469;15165854;15240572;15257288;15330449;15345499;15383545;15498874;15713743;1577494;1588291;15899827;15950618;16002701;16051604;16239428;1631157;16591531;16731529;16754661;16825197;16933105;1704217;17088321;171650;17339034;17968485;18487197;18622425;18710925;18775695;19075007;19413330;19502598;19693541;20033473;2005102;2010551;20470363;20705068;21593211;2169335;21878990;21935455;21967573;22241472;22382088;2253219;22539938;22884367;23090970;23374253;24190977;2537292;2543975;2548603;25505266;2551898;25576301;26424749;2834383;2845110;29557506;29741879;29786170;30315122;3038863;3173483;3223920;32938616;33392160;33968037;35051231;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7505120;7525578;7541634;7542249;7559467;7685013;7882999;7890717;8118028;8344274;8463259;8560266;8576151;8798654;8838667;8910476;8920930;8999957;9022684;9054364;9092507;9251239;9443892;9545296;9560306;9565552;9582318;9651395;9858236", "class_list": "", "function": "Involved in mediating cell attachment and inducing integrin-mediated cellular reactions, such as cell spreading and alterations in cell morphology., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The NC11 domain of collagen XVI is a potential biomarker for oral squamous cell carcinoma and triggers vasculogenic mimicry via upregulation of endothelial receptors VEGFR1, VEGFR2 and uPAR., [RefSeq, PubMed]; This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 1, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q16593;Q59F89;Q71RG9", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005604 basement membrane;GO:0001527 microfibril", "go_biological_process": "GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0030198 extracellular matrix organization;GO:0033627 cell adhesion mediated by integrin;GO:0007565 female pregnancy", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q07092-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAV3-1", "uniprot_id": [ { "id": "CP2W1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAV3", "type": "external" } ], "mass": 53844.0, "length": 490, "protein_name": "Cytochrome P450 2W1", "gene_name": "CYP2W1", "organism": "Human", "refseq_name": "cytochrome P450 2W1 precursor", "refseq_ac": [ { "id": "NP_060251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060251", "type": "external" } ], "gene_names_uniprotkb": "CYP2W1", "gene_names_refseq": "CYP2W1", "protein_names_uniprotkb": "Cytochrome P450 2W1; 1.14.14.-; CYPIIW1", "protein_names_refseq": "CYPIIW1; cytochrome P450 2W1 precursor; cytochrome P450 2W1; cytochrome P450, family 2, subfamily W, polypeptide 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54905); (R-HSA-211958); (R-HSA-211981)", "pathway_count": 3, "publication_count": 42, "publication_id_list": "10383923;11160876;11237011;12464245;12629583;12711469;14660610;15196988;15365656;15454734;15548719;15665333;16359177;16426568;16551781;16677611;17979506;18065749;2025243;20602611;20805301;22591743;23481700;24278521;26787547;26936974;27257736;27307299;27598485;29393594;29789417;31848261;34185709;35051231;35902379;6220203;7217086;7903454;8647857;8975785;9644715;9842986", "class_list": "", "function": "A cytochrome P450 monooxygenase that may play a role in retinoid and phospholipid metabolism (PubMed:22591743, PubMed:26936974). Catalyzes the hydroxylation of saturated carbon hydrogen bonds. Hydroxylates all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may regulate atRA clearance. Other retinoids such as all-trans retinol and all-trans retinal are potential endogenous substrates (PubMed:26936974). Catalyzes both epoxidation of double bonds and hydroxylation of carbon hydrogen bonds of the fatty acyl chain of 1-acylphospholipids/2-lysophospholipids. Can metabolize various lysophospholipids classes including lysophosphatidylcholines (LPCs), lysophosphatidylinositols (LPIs), lysophosphatidylserines (LPSs), lysophosphatidylglycerols (LPGs), lysophosphatidylethanolamines (LPEs) and lysophosphatidic acids (LPAs) (PubMed:22591743). Has low or no activity toward 2-acylphospholipids/1-lysophospholipids, diacylphospholipids and free fatty acids (PubMed:22591743, PubMed:26936974). May play a role in tumorigenesis by activating procarcinogens such as aflatoxin B1, polycyclic aromatic hydrocarbon dihydrodiols and aromatic amines (PubMed:16551781, PubMed:20805301, PubMed:24278521). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:22591743, PubMed:26936974)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CYP2S1 and CYP2W1 expression is associated with patient survival in breast cancer., [RefSeq, PubMed]; CYP2W1 is expressed human colonic and adrenal gland neoplasms, but not normal tissue, and is expressed in rat fetal and adult colon, [RefSeq, PubMed]; Normal adrenal tissue lacks CYP2W1 enzyme expression; adrenocortical carcinomas generally do not express the enzyme as well. Publication Status: Online-Only, [RefSeq, PubMed]; Showed that the genetic pattern of CYP2W1 is interethnically different among the three Chinese populations, and this finding can extend our understanding of population genetics of CYP2W1 in the Chinese population Erratum:[Drug Metab Dispos. 2017 Oct;45(10):1113. doi: 10.1124/dmd.117.069153err. PMID: 28923842], [RefSeq, PubMed]; Summarizes the history, distribution, polymorphism, membrane topology, function and possible role in cancer therapy of CYP2W1. Review article, [RefSeq, PubMed]; The expression of CYP2W1 is colon tumor-specific and is associated with methylation status of the CYP2W1 gene, suggesting a potential causal link between the gene hypomethylation and its enhanced expression., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "5.4.4.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.4.7", "type": "external" }, { "id": "1.14.14.74", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.74", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "5.3.99.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.5", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" } ], "go_molecular_function": "GO:0008401 retinoic acid 4-hydroxylase activity;GO:0005506 iron ion binding;GO:0005503 all-trans retinal binding;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0006644 phospholipid metabolic process;GO:0006082 organic acid metabolic process;GO:0034653 retinoic acid catabolic process;GO:1903604 cytochrome metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8TAV3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUY5-1", "uniprot_id": [ { "id": "ZN426_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUY5", "type": "external" } ], "mass": 63106.0, "length": 554, "protein_name": "Zinc finger protein 426", "gene_name": "ZNF426", "organism": "Human", "refseq_name": "zinc finger protein 426 isoform 3", "refseq_ac": [ { "id": "NP_001304984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304984", "type": "external" } ], "gene_names_uniprotkb": "ZNF426", "gene_names_refseq": "K-RBP; ZNF426", "protein_names_uniprotkb": "Zinc finger protein 426", "protein_names_refseq": "CTC-543D15.7; KSHV RTA binding protein; zinc finger protein 426 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:79088); (R-HSA-212436)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;18216089;19592062;19901323;2163759;26992070;28832583;29242379;29393594;29493099;29557506;29632711;29786170;31844290;32157095;32897882;32938616;33968037;33981976;35051231;35580925;36010968;8183939;8769649;9637681;9653119", "class_list": "", "function": "It was found that herpesvirus 8 RTA can induce K-RBP degradation through the ubiquitin-proteasome pathway and that two regions in RTA are responsible., [RefSeq, PubMed]; Kaposi's sarcoma-associated herpesvirus (KSHV) can be reactivated from latency by the viral protein RTA. The protein encoded by this gene is a zinc finger transcriptional repressor that interacts with RTA to modulate RTA-mediated reactivation of KSHV. While the encoded protein can repress KSHV reactivation, RTA can induce degradation of this protein through the ubiquitin-proteasome pathway to overcome the repression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; These findings suggest that the DNA-binding activity of K-RBP plays an important role in repressing viral promoter activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KTL2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BUY5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RS6-1", "uniprot_id": [ { "id": "NUDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RS6", "type": "external" } ], "mass": 66756.0, "length": 583, "protein_name": "NudC domain-containing protein 1", "gene_name": "NUDCD1", "organism": "Human", "refseq_name": "nudC domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001121683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121683", "type": "external" } ], "gene_names_uniprotkb": "NUDCD1; CML66", "gene_names_refseq": "CML66; NUDCD1; OVA66", "protein_names_uniprotkb": "NudC domain-containing protein 1; Chronic myelogenous leukemia tumor antigen 66; Tumor antigen CML66", "protein_names_refseq": "chronic myelogenous leukemia tumor antigen 66; nudC domain-containing protein 1 isoform 2; nudC domain-containing protein 1; tumor antigen CML66", "tax_id": 9606, "disease": "", "pathway": " (hsa:84955)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11416219;14688378;18534745;18754882;20068231;22002106;23186163;23301498;24366607;24714562;24715725;25576301;25880248;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28218747;28228285;28446606;28510447;28832583;28834231;28904123;29242379;29331515;29437277;29485866;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30410026;30429286;30444036;30524438;30833945;31092671;31154438;31291378;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34171305;34357683;34932366;35051231;35132862;35580925;36104662;36284347;37338527;37938771;38665916", "class_list": "", "function": "An alternative promoter (CML66-S short isoform) has been identified in combination with alternative splicing as a novel mechanism for regulation of the epitope generation of a self-tumor antigen., [RefSeq, PubMed]; CML66 may play an oncogenic role in ways of favoring tumor cells proliferation, invasion and metastasis-associated with multiple pathways., [RefSeq, PubMed]; Identifying the role of NUDCD1 in human tumors from clinical and molecular mechanisms: a study based on comprehensive bioinformatics and experimental validation., [RefSeq, PubMed]; NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Study identified a novel gene, OVA66, which was expressed significantly higher in cancer patients than normal controls; IgG level against OVA66 was significantly elevated in the serum of cancer patients from different histological types of cancer [OVA66], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DVX6;Q4G130;Q8NDQ5;Q8NG18;Q96SI4;Q9BVR5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0002376 immune system process", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q96RS6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01968-1", "uniprot_id": [ { "id": "OCRL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01968", "type": "external" } ], "mass": 104205.0, "length": 901, "protein_name": "Inositol polyphosphate 5-phosphatase OCRL", "gene_name": "OCRL", "organism": "Human", "refseq_name": "inositol polyphosphate 5-phosphatase OCRL isoform a", "refseq_ac": [ { "id": "NP_000267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000267", "type": "external" } ], "gene_names_uniprotkb": "OCRL; OCRL1", "gene_names_refseq": "DENT2; Dent-2; LOCR; OCRL-1; OCRL1; OCRL", "protein_names_uniprotkb": "Inositol polyphosphate 5-phosphatase OCRL; 3.1.3.36; 3.1.3.56; 3.1.3.86; Inositol polyphosphate 5-phosphatase OCRL-1; Lowe oculocerebrorenal syndrome protein; OCRL-1; Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase", "protein_names_refseq": "Lowe oculocerebrorenal syndrome protein; inositol polyphosphate 5-phosphatase OCRL isoform a; inositol polyphosphate 5-phosphatase OCRL-1; oculocerebrorenal syndrome of Lowe; phosphatidylinositol 3,4,5-triphosphate 5-phosphatase; phosphatidylinositol polyphosphate 5-phosphatase", "tax_id": 9606, "disease": "Dent disease 2 (Disease Ontology:DOID:0081454); oculocerebrorenal syndrome (Disease Ontology:DOID:1056)", "pathway": " (hsa:4952); (R-HSA-1660499); (R-HSA-1660514); (R-HSA-1855183); (R-HSA-1855204); (R-HSA-432722); (R-HSA-8856828); (R-HSA-9013409); (R-HSA-9013423)", "pathway_count": 9, "publication_count": 346, "publication_id_list": "10101268;10194451;10224048;10394364;10419465;10535736;10542231;10555148;10559856;10559861;10559924;10559940;10567352;10593988;10618392;10625686;10753883;10764818;10766823;10767176;10805725;10806194;10822173;10866302;10923037;10967094;11001876;11022047;11022048;11042108;11082044;11084340;11118617;11231140;11237011;11239472;11279162;11302699;11349134;11470803;11516654;11517213;11532990;11577110;11590181;11604140;11604418;11676921;11694590;11704860;11706043;11716755;11733541;11877430;11877457;11877461;11889126;11909533;11923287;11956649;11994746;12057195;12101241;12118066;12213833;12223481;12324459;12422219;12447393;12456725;12536145;12646134;12747803;12808147;12847086;12890864;12952949;1321346;1333955;1377913;14516276;14527956;14555962;14581451;14617351;14617813;14622578;14622579;14659893;14660569;14675773;15024000;15037625;15080793;15102850;15107860;15135396;15140260;15252009;15260957;15304341;15316017;15318165;15339664;15464023;15474001;15502812;15502813;15504367;15579586;15627218;15649145;15702972;15703209;15710388;15716355;15790568;15797027;15802264;15840652;15895077;15916959;16103228;16107206;16154996;16155256;16215232;16326391;16399794;16410077;1644792;16476736;16516836;16522682;16707488;16777452;16798879;16880396;16903783;16914545;16979564;17008356;17018281;17035995;17068342;17116749;17158794;1718960;17245604;17384968;17494869;17512409;17540576;17555535;17556371;17609109;17651088;17681954;17762867;17765681;17978091;18093523;18364358;18388313;1847920;18697831;18753295;18790740;18950639;18981233;19038970;19092055;19168822;19179337;19211563;19269969;19287005;19296720;19458185;19534724;19536138;19575674;19603039;19668216;19696796;19713939;19776351;19809571;19896968;20033059;20059951;20133602;20211604;20231386;20428113;20448150;20534812;20826345;20946875;21031565;2115402;21187331;21204784;21233288;21278753;21316588;21378754;21445324;21482805;21499258;21613550;21666675;21779028;21841790;21883765;21927000;21927001;21962517;21971085;22037487;22072788;22099461;22228094;22233676;22381590;22484487;22505844;22543976;22647598;22815487;22863004;22971344;23029280;23255595;23297414;23519112;23536704;23758345;23823722;23861397;23891661;24130457;24186068;24581490;24789820;24966051;25107275;25303366;25341920;25495341;2550068;25862245;25869668;26042225;26299518;26403691;26628301;26992070;27481945;27713499;27862975;27920218;28356423;2841328;28649982;28832583;29393594;29557506;29786170;29789417;30379171;30905672;31844290;31871319;32157095;32302585;32350084;32387766;32897882;32938616;33592498;33968037;34171305;34357683;34932366;35051231;35580925;38253038;38726999;39062513;40969890;6146630;7608176;7624799;7628435;7721860;7761412;7877694;7890667;8006039;8374173;8390685;8407970;8454637;8504307;8524399;8530101;8552632;8634694;8662638;8670264;8681945;8723348;8769125;8999962;9048911;9092476;9094719;9100026;9113989;9148941;9199559;9211928;9252344;9286278;9295334;9360711;9367159;9405935;9427626;9428629;9430698;9514948;9516481;9524259;9593664;9632163;9635431;9660759;9660833;9682219;9736607;9788721;9811831;9830063;9878262", "class_list": "", "function": "Catalyzes the hydrolysis of the 5-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:10764818, PubMed:15474001, PubMed:7761412, PubMed:9430698). Also, is able to hydrolyze the 5-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate (PubMed:15474001, PubMed:40969890, PubMed:7761412). Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes (PubMed:21971085). Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976). Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling (PubMed:22072788)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Clinical features and genetic analysis of 15 Chinese children with dent disease., [RefSeq, PubMed]; OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NKI1;A8KAP2;B7ZLX2;O60800;Q15684;Q15774;Q4VY09;Q4VY10;Q5JQF1;Q5JQF2;Q9UJG5;Q9UMA5", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.4.17.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.22", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.7.1.134", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.134", "type": "external" }, { "id": "2.7.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.159", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" } ], "go_molecular_function": "GO:0034596 phosphatidylinositol phosphate 4-phosphatase activity;GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding;GO:0043813 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;GO:0052745 inositol phosphate phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005798 Golgi-associated vesicle;GO:0005829 cytosol", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0007165 signal transduction;GO:0061024 membrane organization;GO:0060271 cilium assembly;GO:0006661 phosphatidylinositol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 34.9, "record_id": "Q01968-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62306-1", "uniprot_id": [ { "id": "RUXF_HUMAN", "url": "https://www.uniprot.org/uniprot/P62306", "type": "external" } ], "mass": 9725.0, "length": 86, "protein_name": "Small nuclear ribonucleoprotein F", "gene_name": "SNRPF", "organism": "Human", "refseq_name": "small nuclear ribonucleoprotein F isoform 1", "refseq_ac": [ { "id": "NP_003086", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003086", "type": "external" } ], "gene_names_uniprotkb": "SNRPF; PBSCF", "gene_names_refseq": "SMF; SNRPF; Sm-F; snRNP-F", "protein_names_uniprotkb": "Small nuclear ribonucleoprotein F; Sm protein F; Sm-F; SmF; snRNP-F", "protein_names_refseq": "sm protein F; small nuclear ribonucleoprotein F isoform 1; small nuclear ribonucleoprotein F", "tax_id": 9606, "disease": "nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:6636); (R-HSA-111367); (R-HSA-191859); (R-HSA-72163); (R-HSA-72165); (R-HSA-73856); (R-HSA-77588); (R-HSA-9754678); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 11, "publication_count": 200, "publication_id_list": "10199952;10207048;10531003;10556282;10601333;10669729;10725331;10851237;10882114;11014198;11060040;11101529;11233976;11237011;11333016;11333026;11574479;11607023;11714716;11747608;11748230;11991638;12065586;12095920;12176931;12411573;12414731;12441251;12477934;12682017;12776181;12975319;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15084397;15146077;15565158;15647753;16263726;16314458;16314521;16372014;16809785;17095540;17128255;17332742;17433364;17606899;17717186;17940139;18042460;18288197;18322460;18593880;18984161;19052544;19103666;19165350;19217410;19325628;19536130;19838190;20068231;20211137;20423332;20695905;20980672;21295486;21362751;21516107;21536652;2176635;21816274;21911577;22046413;22110043;22121020;22365833;22569126;22813749;22922743;22959432;22961380;23222130;23236153;23301498;23333303;23345524;23874216;24076191;24149845;24196718;24304693;24448447;24737827;24914973;2524422;25301780;25301781;25555158;2558966;26092250;26385511;26420826;26912367;26969736;26992070;27108190;27377154;27459055;27510544;27661449;27683217;27846572;28062851;28076346;28096519;28218747;28502770;28781166;28834231;28911096;29186539;29274231;29301961;29360106;29361316;2963332;29902443;30139799;30192525;30257008;30315277;30429286;30444036;30599162;30705154;30728453;30765414;30975767;31409651;31799625;31844290;31848261;32157095;32179686;32329775;32357974;32494006;32680882;32816001;32908316;32995776;32995777;33080218;33177556;33188728;33243851;33268501;33298915;33446560;33479166;33936100;34019948;34171305;34301950;34315815;34373319;34561969;34624207;34822310;35177536;35215846;35385551;36241641;36610391;36797247;3757028;38665916;7744013;8196654;8566756;8608946;8835860;9016565;9049306;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9845364", "class_list": "", "function": "Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:32494006). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:28781166). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077). As part of the U7 snRNP it is involved in histone 3'-end processing (PubMed:12975319)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2VCR2;B2R498;Q15356;Q6IBQ1;Q6P4I0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0036261 7-methylguanosine cap hypermethylation;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0008380 RNA splicing;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0000387 spliceosomal snRNP assembly", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "P62306-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTJ5-1", "uniprot_id": [ { "id": "SAC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTJ5", "type": "external" } ], "mass": 66967.0, "length": 587, "protein_name": "Phosphatidylinositol-3-phosphatase SAC1", "gene_name": "SACM1L", "organism": "Human", "refseq_name": "phosphatidylinositol-3-phosphatase SAC1 isoform 2", "refseq_ac": [ { "id": "NP_001306001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306001", "type": "external" } ], "gene_names_uniprotkb": "SACM1L; KIAA0851; SAC1", "gene_names_refseq": "SAC1; SACM1L", "protein_names_uniprotkb": "Phosphatidylinositol-3-phosphatase SAC1; 3.1.3.64; Phosphatidylinositol-4-phosphate phosphatase; Suppressor of actin mutations 1-like protein", "protein_names_refseq": "SAC1 suppressor of actin mutations 1 like; phosphatidylinositide phosphatase SAC1; phosphatidylinositol-3-phosphatase SAC1 isoform 2; phosphatidylinositol-3-phosphatase SAC1; phosphatidylinositol-4-phosphate phosphatase; suppressor of actin 1; suppressor of actin mutations 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:22908); (R-HSA-1483248); (R-HSA-1660514)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10.1101/2023.09.13.557529;10101268;10419465;10559940;10567352;10764818;10766823;10805725;10806194;11230166;11237011;11279162;11352561;11706043;11716755;11923287;12324459;12668758;14527956;14530412;14659893;17555535;17556371;18480408;18950639;19211563;19608861;19668216;20068231;23481700;24209621;24714562;24715725;25522275;25576301;26154972;26728094;26992070;27044890;27090790;27397612;27600516;27893789;28218747;28228285;28467828;28514659;28832583;28834231;29242379;29437277;29461204;29493099;29557506;29632711;30315122;30429286;30484775;30524438;30659099;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33141586;33691108;33968037;33981976;34171305;34509645;34932366;35051231;35154160;35318648;35561310;35580925;35816160;36215666;36241641;36284347;37938771;38665916;7628435;7761412;8634694;8999962;9148941;9405935;9516481;9878262", "class_list": "", "function": "Phosphoinositide phosphatase which catalyzes the hydrolysis of phosphatidylinositol 4-phosphate (PtdIns(4)P) (PubMed:24209621, PubMed:27044890, PubMed:29461204, PubMed:30659099). Can also catalyze the hydrolysis of phosphatidylinositol 3-phosphate (PtdIns(3)P) and has low activity towards phosphatidylinositol-3,5-bisphosphate (PtdIns(3,5)P2) (By similarity). Shows a very robust PtdIns(4)P phosphatase activity when it binds PtdIns(4)P in a 'cis' configuration in the cellular environment, with much less activity seen when it binds PtdIns(4)P in 'trans' configuration (PubMed:24209621, PubMed:29461204, PubMed:30659099). PtdIns(4)P phosphatase activity (when it binds PtdIns(4)P in 'trans' configuration) is enhanced in the presence of PLEKHA3 (PubMed:30659099)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Sac1 executes an essential household function in mammals that involves organization of both Golgi membranes and mitotic spindles, [RefSeq, PubMed]; Sac1 phosphatidylinositol 4-phosphate phosphatase is a novel host cell factor regulating hepatitis B virus particles assembly and release., [RefSeq, PubMed]; The enzymatic function of hSAC1 provides a switch for accessibility of the COPI interaction motif, [RefSeq, PubMed]; This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K527;B4DK71;O94935;Q7LA14;Q7LA22;Q96AX7;Q9NQ46;Q9NQ57", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" } ], "go_molecular_function": "GO:0034596 phosphatidylinositol phosphate 4-phosphatase activity;GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity;GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity;GO:0016791 phosphatase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006661 phosphatidylinositol biosynthetic process;GO:0046856 phosphatidylinositol dephosphorylation;GO:0098967 exocytic insertion of neurotransmitter receptor to postsynaptic membrane", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9NTJ5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10242-1", "uniprot_id": [ { "id": "MYB_HUMAN", "url": "https://www.uniprot.org/uniprot/P10242", "type": "external" } ], "mass": 72341.0, "length": 640, "protein_name": "Transcriptional activator Myb", "gene_name": "MYB", "organism": "Human", "refseq_name": "transcriptional activator Myb isoform 3", "refseq_ac": [ { "id": "NP_001123644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123644", "type": "external" } ], "gene_names_uniprotkb": "MYB", "gene_names_refseq": "Cmyb; MYB; c-myb_CDS; c-myb; efg", "protein_names_uniprotkb": "Transcriptional activator Myb; Proto-oncogene c-Myb", "protein_names_refseq": "MYB-GATA1 fusion protein; oncogene AMV; proto-oncogene c-Myb; transcriptional activator Myb isoform 3; transcriptional activator Myb; v-myb avian myeloblastosis viral oncogene homolog", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); essential thrombocythemia (Disease Ontology:DOID:2224); transient cerebral ischemia (Disease Ontology:DOID:224); myelofibrosis (Disease Ontology:DOID:4971)", "pathway": " (hsa:4602); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-9616222); (R-HSA-983231); (R-HSA-9834899)", "pathway_count": 6, "publication_count": 267, "publication_id_list": "10233885;10330422;10500157;10747903;10828826;10873660;11010967;11034064;11042108;11062261;11103799;11136970;11165043;11237011;11242053;11242107;11313925;11340171;11345900;11369759;11410592;11452016;11564866;11581164;11682626;11684017;11744692;11751636;11847229;11867521;11895428;11950885;12032298;12134158;12242300;12427746;12456674;12498683;12612073;12702500;12869508;12959972;14517214;14631847;14675539;15001666;15020713;15169551;15247287;15276198;15282324;15343269;15345050;15514030;15678106;15710388;15986123;16009131;16046058;16054028;16087863;16113099;1630448;1630819;16751774;16980581;17013392;17027967;17063141;17196961;17277772;17463000;17495528;17510434;17562868;17637753;17666587;17690249;18187655;18195038;18219272;18256232;18280240;18322535;18358809;18476782;18533032;18701449;18762174;18776924;18805503;19001364;19020303;19098913;19274700;19293402;19295514;19321454;19383337;1944282;19608861;19646965;19651622;19718048;20219941;20220130;20498280;20530532;20570965;20627800;20661648;20682797;20887958;21106759;21151129;21445275;21471526;21571218;21573489;2181374;21835891;21853052;21878914;218813;2189102;21934649;21940756;21993314;22012064;2202948;22056668;22265404;22371011;22474248;22492511;22545144;22704330;22897851;23001182;23145106;23166356;23172872;23186163;23192763;23303788;23403292;23435229;23481700;23723241;23906331;24167369;24371278;24379003;24584857;24715725;24735615;24854081;24885040;24973012;24998469;25043025;2524830;25296600;25365482;25394790;25433557;25505266;25542856;25576301;25633194;25663755;25674852;25728767;25784653;26056233;26153859;26154972;26204489;26462610;26479350;26845023;2687764;26992070;27062924;27137657;2721961;27846572;27886276;27920218;28228285;28514659;28539435;28832583;28834231;2919170;29242379;29431622;29493099;29508533;29557506;29786170;29789417;3014652;3045126;30524438;31092671;31154438;31217245;31844290;32157095;32387766;32502341;3281094;32897882;32938616;33141586;33298915;33392160;33691108;33903675;33912179;33936100;33968037;3409321;34211107;34509645;34561969;34932366;3498214;35051231;35318648;3540945;35561310;36010968;3677090;38745302;38865811;7559524;7735324;7862113;7935485;7937828;8195246;8197458;8302584;8419924;8662638;8695841;8798443;8816476;8846917;8876171;8895516;8960373;9065479;9177240;9201922;9230307;9326583;9331217;9338790;9388265;9422515;9611253;9671459;9731700;9927674", "class_list": "", "function": "An array of variant transcripts, expressed in highly regulated, lineage-specific patterns were formed from alternate exons 8A, 9A, 9B, 10A, 13A, & 14A. They encoded c-Myb proteins with identical DNA binding domains but unique C-terminal domains., [RefSeq, PubMed]; C-myb alternative RNA splicing was elevated and much more complex in leukemia samples., [RefSeq, PubMed]; HnRNPA0 promotes MYB expression by interacting with enhancer lncRNA MY34UE-AS in human leukemia cells., [RefSeq, PubMed]; Proto-oncogene c-Myb potentiates cisplatin resistance of ovarian cancer cells by downregulating lncRNA NKILA and modulating cancer stemness and LIN28A-let7 axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5'-YAAC[GT]G-3'. Plays an important role in the control of proliferation and differentiation of hematopoietic progenitor cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PI07;E9PLZ5;E9PNA4;E9PNL6;E9PRS2;P78391;P78392;P78525;P78526;Q14023;Q14024;Q708E4;Q708E7;Q9UE83", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0071987 WD40-repeat domain binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016363 nuclear matrix", "go_biological_process": "GO:0060252 positive regulation of glial cell proliferation;GO:2000491 positive regulation of hepatic stellate cell activation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0000278 mitotic cell cycle;GO:0002931 response to ischemia", "synthesized_glycan_count": 0, "hit_score": 26.8, "record_id": "P10242-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969H4-1", "uniprot_id": [ { "id": "CNKR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969H4", "type": "external" } ], "mass": 79706.0, "length": 720, "protein_name": "Connector enhancer of kinase suppressor of ras 1", "gene_name": "CNKSR1", "organism": "Human", "refseq_name": "connector enhancer of kinase suppressor of ras 1 isoform 2", "refseq_ac": [ { "id": "NP_001284576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284576", "type": "external" } ], "gene_names_uniprotkb": "CNKSR1; CNK1", "gene_names_refseq": "CNK1; CNKSR1; CNK", "protein_names_uniprotkb": "Connector enhancer of kinase suppressor of ras 1; CNK homolog protein 1; CNK1; Connector enhancer of KSR 1; Connector enhancer of KSR-like; hCNK1", "protein_names_refseq": "CNK homolog protein 1; connector enhancer of KSR 1; connector enhancer of KSR-like; connector enhancer of kinase suppressor of ras 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10256); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223)", "pathway_count": 8, "publication_count": 124, "publication_id_list": "10209122;10409742;10725339;10891492;11237011;11325826;11802164;11802165;12068308;12473660;12479806;12832465;14636584;14749388;14970219;15035987;15075335;15118098;15239952;15260967;15520807;15543157;15547943;15630448;16135787;16364920;16508002;16702958;16879721;17018604;17145850;17178906;17496912;17563371;17603482;17603483;18287029;18559533;18562239;18669648;18974108;19091303;19219045;19242111;19279408;19467855;19933846;20052757;20130576;20141835;20179705;20526349;20818844;20858867;21107323;21406692;21424530;21514245;21639808;21779496;21784453;21993244;22043453;22113612;22177953;22292133;22356324;22395615;22510884;22569528;22589270;22745804;22826437;23171796;23186163;23288408;23352452;23453624;23583981;23614898;23667175;23680146;23875798;23934108;24121058;24135138;24202393;24345920;24651010;24746704;24937142;24957944;25195011;25204415;25313996;25435214;25907612;26214590;26319181;27227380;28819643;28939558;29467321;30034615;30418433;30484775;30794926;31530632;3287375;32938616;34187934;35051231;35580925;7565670;7565795;7731720;7929275;7935411;8051079;8157000;9020159;9733512;9814705;9858547", "class_list": "", "function": "CNKSR1 serves as a scaffold to activate an EGFR phosphatase via exclusive interaction with RhoB-GTP. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that the connector enhancer of KSR 1 scaffold protein, through its binding of a RASSF1A/MST1 complex, participates in the proapoptotic signaling initiated by active Ras., [RefSeq, PubMed]; HCNK1 associates with Rhophilin and RalGDS, Rho and Ras effector molecules, respectively, suggesting that it acts as a scaffold protein to mediate cross talk between the two pathways, [RefSeq, PubMed]; May function as an adapter protein or regulator of Ras signaling pathways., [UniProtKB]; This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B1AMW9;O95381", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005938 cell cortex", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007167 enzyme-linked receptor protein signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q969H4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13942-1", "uniprot_id": [ { "id": "COBA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P13942", "type": "external" } ], "mass": 171791.0, "length": 1736, "protein_name": "Collagen alpha-2(XI) chain", "gene_name": "COL11A2", "organism": "Human", "refseq_name": "collagen alpha-2(XI) chain isoform 4 precursor", "refseq_ac": [ { "id": "NP_001157243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157243", "type": "external" } ], "gene_names_uniprotkb": "COL11A2", "gene_names_refseq": "COL11A2; DFNA13; DFNB53; FBCG2; HKE5; OSMEDA; OSMEDB; PARP; STL3", "protein_names_uniprotkb": "Collagen alpha-2(XI) chain", "protein_names_refseq": "collagen alpha-2(XI) chain isoform 4 precursor; collagen alpha-2(XI) chain; collagen, type XI, alpha 2; pro-a2 chain of collagen type XI", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); otospondylomegaepiphyseal dysplasia, autosomal recessive (Disease Ontology:DOID:0080026); Stickler syndrome (Disease Ontology:DOID:0080046); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); fibrochondrogenesis 2 (Disease Ontology:DOID:0080673); otospondylomegaepiphyseal dysplasia, autosomal dominant (Disease Ontology:DOID:0080677); autosomal recessive nonsyndromic deafness 53 (Disease Ontology:DOID:0110509); autosomal dominant nonsyndromic deafness 13 (Disease Ontology:DOID:0110545); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); epilepsy (Disease Ontology:DOID:1826); colon cancer (Disease Ontology:DOID:219); osteochondrodysplasia (Disease Ontology:DOID:2256); acute kidney failure (Disease Ontology:DOID:3021); temporal lobe epilepsy (Disease Ontology:DOID:3328); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung adenocarcinoma (Disease Ontology:DOID:3910); liver cirrhosis (Disease Ontology:DOID:5082); stomach carcinoma (Disease Ontology:DOID:5517); cleft palate (Disease Ontology:DOID:674); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); chronic kidney disease (Disease Ontology:DOID:784); colorectal cancer (Disease Ontology:DOID:9256); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1302); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-3000171); (R-HSA-8874081); (R-HSA-8948216); (R-HSA-9925563)", "pathway_count": 8, "publication_count": 125, "publication_id_list": "10049780;10479448;10521801;10551873;10581026;10596943;10677296;10809722;10934207;10966814;11013208;11119712;11237011;11577169;11847221;11927537;12473679;12475640;12482924;12579531;12646579;1323838;1400327;14500733;14602708;15005656;15044469;15257288;15265795;1577494;15837520;15950618;16033917;16591531;16782899;16806867;16825197;1704217;17088321;171650;17574028;18487197;18622425;19075007;19693541;2005102;20470363;20802513;21593211;2169335;21878990;21935455;21967573;22241472;22246659;22382088;2253219;22938506;2307289;23090970;24190977;24480479;2537292;2543975;2548603;2551898;25633957;25645385;2760050;2834383;2845110;29786170;30001391;3038863;3173483;31787984;31844290;3223920;32387766;32938616;33968037;34509645;35051231;36010968;36553626;37217939;37462524;37646720;38253038;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7509446;7559422;7721876;7859284;7890717;8054685;8207089;8325374;8463259;8576151;8838804;8920930;8999957;9008168;9054364;9092507;9101290;9417118;9506662;9545296;9560306;9582318;9585596;9651395;9659899;9659900;9805126;9856810", "class_list": "", "function": "Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort., [RefSeq, PubMed]; COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis., [RefSeq, PubMed]; May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]., [RefSeq]", "predicted_glycosites": 7, "predicted_n_glycosites": 0, "predicted_o_glycosites": 7, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 26, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A6NLX2;E7ER90;Q07751;Q13271;Q13272;Q13273;Q5JP94;Q5SUI8;Q7Z6C3;Q99866;Q9UIP9", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0046872 metal ion binding;GO:0030020 extracellular matrix structural constituent conferring tensile strength;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005592 collagen type XI trimer;GO:0005585 collagen type II trimer", "go_biological_process": "GO:0001501 skeletal system development;GO:0030199 collagen fibril organization;GO:0007605 sensory perception of sound;GO:0048705 skeletal system morphogenesis;GO:0060021 roof of mouth development", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P13942-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VTT2-1", "uniprot_id": [ { "id": "CFA95_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VTT2", "type": "external" } ], "mass": 26445.0, "length": 229, "protein_name": "Cilia- and flagella-associated protein 95", "gene_name": "CFAP95", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 95 isoform 1", "refseq_ac": [ { "id": "NP_001010940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010940", "type": "external" } ], "gene_names_uniprotkb": "CFAP95; C9orf135", "gene_names_refseq": "C9orf135; CFAP95", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 95", "protein_names_refseq": "cilia- and flagella-associated protein 95 isoform 1; protein CFAP95; uncharacterized protein C9orf135", "tax_id": 9606, "disease": "", "pathway": " (hsa:138255)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;16335952;20818722;28345668;36191189;38538594", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A7E2U4;B2RN61", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q5VTT2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13838-1", "uniprot_id": [ { "id": "DX39B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13838", "type": "external" } ], "mass": 48991.0, "length": 428, "protein_name": "Spliceosome RNA helicase DDX39B", "gene_name": "DDX39B", "organism": "Human", "refseq_name": "spliceosome RNA helicase DDX39B", "refseq_ac": [ { "id": "NP_004631", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004631", "type": "external" } ], "gene_names_uniprotkb": "DDX39B; BAT1; UAP56", "gene_names_refseq": "BAT1; D6S81E; DDX39B; UAP56", "protein_names_uniprotkb": "Spliceosome RNA helicase DDX39B; 3.6.4.13; 56 kDa U2AF65-associated protein; ATP-dependent RNA helicase p47; DEAD box protein UAP56; HLA-B-associated transcript 1 protein", "protein_names_refseq": "56 kDa U2AF65-associated protein; ATP-dependent RNA helicase p47; DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B; DEAD-box helicase 39B; HLA-B-associated transcript 1 protein; nuclear RNA helicase (DEAD family); spliceosome RNA helicase BAT1; spliceosome RNA helicase DDX39B", "tax_id": 9606, "disease": "type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:7919); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9013418)", "pathway_count": 5, "publication_count": 237, "publication_id_list": "10228171;10323864;10489353;10668806;10882114;11014198;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11579093;11675789;11739738;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12871933;12944400;14625303;14667819;14713954;15107402;15296731;15585580;15833825;15870275;15998806;16314397;16314458;16408927;16478985;16702430;16809785;17000901;17095540;17190602;17332742;17562711;17606899;17984224;18322460;18364396;18411249;18423201;18491316;18593880;18669648;18835386;18957205;18974867;18991276;19103666;19165350;19403039;19413330;19536130;19608861;19651622;19664995;19836239;20068231;20129943;20423332;20573985;20844015;20980672;21536652;2176635;21859714;21947206;22110043;22144908;22207203;22223895;22365833;22424782;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23301498;23345524;23481700;23826332;24029068;24196718;24244187;24304693;24448447;24608665;24714562;24715725;24737827;24914973;25418920;25469497;25555158;25576301;2558966;25645385;25662211;25755297;25802875;25836925;25880248;26154972;26375851;26385511;26420826;26811146;26969736;26992070;27377154;27397612;27459055;27683217;27846572;27862975;27920218;27941885;28062851;28063628;28076346;28228285;28502770;28514659;28649982;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29557506;29632046;2963332;29786170;29789417;30315122;30315277;30429286;30444036;30524438;30705154;30728453;30765414;30779550;30833945;30975767;31409651;31844290;31848261;31871319;32157095;32161166;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32870666;32897882;32938616;32983136;33141586;33191911;33214551;33243851;33298915;33392160;33446560;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34185709;34301950;34405274;34509645;34561969;34725712;34822310;34932366;35051231;35154160;35318648;35385551;35580925;36010968;36241641;36284347;37020021;3757028;37578863;37938771;38225262;38377942;38665916;38801080;39990658;40914422;7601445;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9618489;9660949;9671485;9701291;9731529", "class_list": "", "function": "(Microbial infection) The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production., [UniProtKB, PubMed]; Involved in nuclear export of spliced and unspliced mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). The TREX complex is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway (PubMed:15833825, PubMed:15998806, PubMed:17190602). The THOC1-THOC2-THOC3 core complex alone is sufficient to promote ATPase activity of DDX39B; in the complex THOC2 is the only component that directly interacts with DDX39B (PubMed:33191911). Associates with SARNP/CIP29, which facilitates RNA binding of DDX39B and likely plays a role in mRNA export (PubMed:37578863). May undergo several rounds of ATP hydrolysis during assembly of TREX to drive subsequent loading of components such as ALYREF/THOC4 and CHTOP onto mRNA. Also associates with pre-mRNA independent of ALYREF/THOC4. Involved in the nuclear export of intronless mRNA; the ATP-bound form is proposed to recruit export adapter ALYREF/THOC4 to intronless mRNA; its ATPase activity is cooperatively stimulated by RNA and ALYREF/THOC4 and ATP hydrolysis is thought to trigger the dissociation from RNA to allow the association of ALYREF/THOC4 and the NXF1-NXT1 heterodimer. Involved in transcription elongation and genome stability., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Parsing the roles of DExD-box proteins DDX39A and DDX39B in alternative RNA splicing., [RefSeq, PubMed]; RNA helicase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Splice factor that is required for the first ATP-dependent step in spliceosome assembly and for the interaction of U2 snRNP with the branchpoint. Has both RNA-stimulated ATP binding/hydrolysis activity and ATP-dependent RNA unwinding activity. Even with the stimulation of RNA, the ATPase activity is weak. Can only hydrolyze ATP but not other NTPs. The RNA stimulation of ATPase activity does not have a strong preference for the sequence and length of the RNA. However, ssRNA stimulates the ATPase activity much more strongly than dsRNA. Can unwind 5' or 3' overhangs or blunt end RNA duplexes in vitro. The ATPase and helicase activities are not influenced by U2AF2; the effect of ALYREF/THOC4 is reported conflictingly with [PubMed:23299939] reporting a stimulatory effect., [UniProtKB, PubMed, PubMed]; Structural differences between the closely related RNA helicases, UAP56 and URH49, fashion distinct functional apo-complexes. Publication Status: Online-Only, [RefSeq, PubMed]; Terminal regions of UAP56 and URH49 are required for their distinct complex formation functioning to an essential role in mRNA processing and export., [RefSeq, PubMed]; This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011]., [RefSeq]; This report summarizes recent evidence for the role of UAP56 in pre-mRNA splicing and nuclear export. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0S8C0;O43496;Q0EFA1;Q2L6F9;Q53GL9;Q5RJ64;Q5RJ66;Q5ST94;Q5STB4;Q5STB5;Q5STB7;Q5STB8;Q5STU4;Q5STU5;Q5STU6;Q5STU8;Q71V76", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0030621 U4 snRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0006406 mRNA export from nucleus;GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome;GO:0000245 spliceosomal complex assembly;GO:0006405 RNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "Q13838-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6N075-1", "uniprot_id": [ { "id": "MFSD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6N075", "type": "external" } ], "mass": 49765.0, "length": 450, "protein_name": "Solute carrier family 61 member 1", "gene_name": "SLC61A1", "organism": "Human", "refseq_name": "solute carrier family 61 member 1 isoform 1", "refseq_ac": [ { "id": "NP_001164261", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164261", "type": "external" } ], "gene_names_uniprotkb": "SLC61A1; MFSD5; PRO1759", "gene_names_refseq": "MFSD5; SLC61A1; hsMOT2", "protein_names_uniprotkb": "Solute carrier family 61 member 1; Major facilitator superfamily domain-containing protein 5; Molybdate transporter 2 homolog; Molybdate-anion transporter; hsMOT2", "protein_names_refseq": "major facilitator superfamily domain containing 5; major facilitator superfamily domain-containing protein 5; molybdate transporter 2 homolog; molybdate-anion transporter; solute carrier family 61 member 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84975)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1074/mcp.M114.046862;11237011;12975309;16303743;21044875;21464289;25576301;25645385;25813380;26154972;26992070;27600516;27846572;28834231;28855257;29242379;29786170;31154438;31844290;31848261;32157095;32387766;32488085;32938616;32983136;33043033;33392160;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34509645;35051231;35494241;35580925;36215666;36284347;37937463;39534244", "class_list": "", "function": "Major Facilitator Superfamily Domain Containing 5 Inhibition Reduces Lipoprotein(a) Uptake and Calcification in Valvular Heart Disease., [RefSeq, PubMed]; Mediates high-affinity intracellular uptake of the rare oligo-element molybdenum., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "G3V1N7;Q6NW04;Q8N7W8;Q8NCK0;Q96IA5", "ec_number_list": [], "go_molecular_function": "GO:0015098 molybdate ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0015689 molybdate ion transport", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q6N075-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12887-1", "uniprot_id": [ { "id": "COX10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12887", "type": "external" } ], "mass": 48910.0, "length": 443, "protein_name": "Protoheme IX farnesyltransferase, mitochondrial", "gene_name": "COX10", "organism": "Human", "refseq_name": "protoheme IX farnesyltransferase, mitochondrial", "refseq_ac": [ { "id": "NP_001294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294", "type": "external" } ], "gene_names_uniprotkb": "COX10", "gene_names_refseq": "COX10; MC4DN3", "protein_names_uniprotkb": "Protoheme IX farnesyltransferase, mitochondrial; 2.5.1.141; Heme O synthase", "protein_names_refseq": "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase; COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor; cytochrome c oxidase assembly homolog 10; cytochrome c oxidase assembly protein; cytochrome c oxidase subunit X; heme A: farnesyltransferase; heme O synthase; protoheme IX farnesyltransferase, mitochondrial", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 3 (Disease Ontology:DOID:0070492); Parkinson's disease (Disease Ontology:DOID:14330); Leigh disease (Disease Ontology:DOID:3652); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); mitochondrial myopathy (Disease Ontology:DOID:699)", "pathway": " (hsa:1352); (R-HSA-189451)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10706561;10767350;11032836;11032841;11175906;11237011;12474143;12773194;12928484;15235026;15863660;16121195;16176984;16258391;1939222;20705604;21248752;23467411;25766330;26154972;26741492;27920218;28228285;29242379;29493099;29632046;30484775;31844290;32157095;32387766;32938616;33141586;33180568;33592498;33936100;34561969;35051231;35494241;36010968;36241641;3805019;39152498;666752;6822570;7354069;7592565;8078902;8159699;8644733;8771201;9177788;9878253", "class_list": "", "function": "A Novel COX10 Deletion Polymorphism as a Susceptibility Factor for Sudden Cardiac Death Risk in Chinese Populations., [RefSeq, PubMed]; Converts protoheme IX and farnesyl diphosphate to heme O., [UniProtKB]; Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]., [RefSeq]; On the basis of its pivotal role in regulating cell death upon COX dysfunction, CerS6 might potentially represent a novel target for therapeutic intervention in mitochondrial diseases caused by COX dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6U5;B4DJ50;O15334;Q969F7", "ec_number_list": [ { "id": "2.5.1.141", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.141", "type": "external" } ], "go_molecular_function": "GO:0004311 geranylgeranyl diphosphate synthase activity;GO:0008495 protoheme IX farnesyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0070069 cytochrome complex;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006783 heme biosynthetic process;GO:0006784 heme A biosynthetic process;GO:0008535 respiratory chain complex IV assembly;GO:0017004 cytochrome complex assembly", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q12887-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92797-1", "uniprot_id": [ { "id": "SYMPK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92797", "type": "external" } ], "mass": 141148.0, "length": 1274, "protein_name": "Symplekin", "gene_name": "SYMPK", "organism": "Human", "refseq_name": "symplekin", "refseq_ac": [ { "id": "NP_004810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004810", "type": "external" } ], "gene_names_uniprotkb": "SYMPK; SPK", "gene_names_refseq": "Pta1; SPK; SYMPK; SYM", "protein_names_uniprotkb": "Symplekin", "protein_names_refseq": "symplekin", "tax_id": 9606, "disease": "", "pathway": " (hsa:8189); (R-HSA-159231); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 178, "publication_id_list": "10669729;11014198;11060040;11237011;11747608;11979277;12006661;12871933;14519844;14707147;14749727;14762106;15037765;15084397;15120988;15302935;15565158;15998806;16230528;16964243;17128255;17190602;17317185;17984224;18288197;18411249;18452278;18669648;18688255;18691976;18957205;19217410;19413330;19494120;19651622;19664994;19664995;19690332;19836239;20058876;20068231;2017161;20573985;20630994;20695905;20844015;20861839;21295486;21911577;21947206;22207203;22813749;22928037;23070812;23186163;23222130;23299939;23481700;23582887;23804756;23874216;24029068;24076191;24149845;24244187;24275569;24366607;24714562;24715725;25114211;25218447;25301780;25301781;25418920;25576301;25645385;25662211;25755297;25836925;25880248;25892735;26092250;26154972;26375851;26728094;26992070;27108190;27846572;27920218;28063628;28096519;28218747;28228285;28514659;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29902443;30139799;30257008;30315122;30379171;30429286;30484775;30524438;30599162;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32816001;32897882;32938616;32938750;32983136;33141586;33177556;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35177536;35215846;35251023;35254053;35318648;35561310;35580925;36010968;36241641;36284347;37938771;39302247;40596516;8769423;9330635;9585442;9659921", "class_list": "", "function": "Scaffold protein that functions as a component of a multimolecular complex involved in histone mRNA 3'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house-keeping rule. Is involved in pre-mRNA polyadenylation. Enhances SSU72 phosphatase activity., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O00521;O00689;O00733;Q59GT5;Q8N2U5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097165 nuclear stress granule;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "GO:0007155 cell adhesion;GO:0032091 negative regulation of protein binding;GO:0031124 mRNA 3'-end processing;GO:0071045 nuclear histone mRNA catabolic process;GO:0006397 mRNA processing", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q92797-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBY8-1", "uniprot_id": [ { "id": "CLN8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBY8", "type": "external" } ], "mass": 32787.0, "length": 286, "protein_name": "Protein CLN8", "gene_name": "CLN8", "organism": "Human", "refseq_name": "protein CLN8", "refseq_ac": [ { "id": "NP_061764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061764", "type": "external" } ], "gene_names_uniprotkb": "CLN8; C8orf61", "gene_names_refseq": "C8orf61; CLN8; EPMR; TLCD6", "protein_names_uniprotkb": "Protein CLN8", "protein_names_refseq": "ceroid-lipofuscinosis, neuronal 8; protein CLN8", "tax_id": 9606, "disease": "neuronal ceroid lipofuscinosis 8 (Disease Ontology:DOID:0110723); neuronal ceroid lipofuscinosis 8 northern epilepsy variant (Disease Ontology:DOID:0110724)", "pathway": " (hsa:2055)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10508524;10861296;11237011;15024724;16570191;17237713;19201763;19431184;19807737;19941651;21990111;25645385;25880248;26443629;27535533;30919163;31154438;32357974;32597833;32938616;33912179;33968037;34044364;34201538", "class_list": "", "function": "CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report. Publication Status: Online-Only, [RefSeq, PubMed]; CLN8 associates with CLN6 to form the EGRESS complex (ER-to-Golgi Relaying of Enzymes of the lySosomal System), the functional unit responsible for the recruitment of newly synthesized lysosomal enzymes in the endoplasmic reticulum and their transfer to the Golgi complex. Erratum:[J Clin Invest. 2025 Dec 15;135(24):e202081. doi: 10.1172/JCI202081. PMID: 41392992], [RefSeq, PubMed]; Could play a role in cell proliferation during neuronal differentiation and in protection against cell death., [UniProtKB, PubMed]; MiR-3074-5p/CLN8 pathway regulates decidualization in recurrent miscarriage. Publication Status: Online-Only, [RefSeq, PubMed]; The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function., [RefSeq, PubMed]; This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86U71;Q96I95", "ec_number_list": [], "go_molecular_function": "GO:0097001 ceramide binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment", "go_biological_process": "GO:0006869 lipid transport;GO:0007399 nervous system development;GO:0008203 cholesterol metabolic process;GO:0008610 lipid biosynthetic process;GO:0046513 ceramide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9UBY8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULM6-1", "uniprot_id": [ { "id": "CNOT6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULM6", "type": "external" } ], "mass": 63307.0, "length": 557, "protein_name": "CCR4-NOT transcription complex subunit 6", "gene_name": "CNOT6", "organism": "Human", "refseq_name": "CCR4-NOT transcription complex subunit 6 isoform 1", "refseq_ac": [ { "id": "NP_001357401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001357401", "type": "external" } ], "gene_names_uniprotkb": "CNOT6; CCR4a; CCR4; KIAA1194", "gene_names_refseq": "CCR4; CNOT6; Ccr4a", "protein_names_uniprotkb": "CCR4-NOT transcription complex subunit 6; 3.1.13.4; CCR4 carbon catabolite repression 4-like; Carbon catabolite repressor protein 4 homolog; Cytoplasmic deadenylase", "protein_names_refseq": "CCR4-NOT transcription complex subunit 6 isoform 1; carbon catabolite repression 4 protein; carbon catabolite repressor protein 4 homolog; cytoplasmic deadenylase", "tax_id": 9606, "disease": "heart disease (Disease Ontology:DOID:114)", "pathway": " (hsa:57472); (R-HSA-429947); (R-HSA-5617472); (R-HSA-6804115); (R-HSA-9820841)", "pathway_count": 5, "publication_count": 130, "publication_id_list": "10637334;10777502;10882133;11237011;11283721;11747467;11814693;11889047;11896574;12771185;12897130;1355481;14583602;14749774;14968113;15314026;15475613;15687258;15713436;15867264;16079151;16140933;16141059;16160013;16284618;16549775;17052452;17146433;17185360;17245413;17428788;1756725;17595167;17660710;17713478;17761849;17851529;18180299;18337750;18625844;18781158;19115252;19232136;19239894;19276069;19558367;19747919;1975088;19782034;19854132;20065043;20085832;20352051;20531387;21233283;22252318;22569366;22705304;22879880;23219899;23236473;23481700;23534758;23630040;24174538;24312487;24586203;24714562;25101834;25135475;25480299;25576301;2570724;25880248;25913784;26154972;26728094;26811146;26992070;27846572;27869121;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29437277;29493099;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30926667;31844290;32357974;32387766;32502341;32502391;32938616;33298915;33691108;33912179;33968037;34038562;34171305;34647228;35318648;35580925;36010968;37938771;7488013;7501971;7831296;7906964;7908827;8674428;8759021;8944033;9099687;9184226;9218805;9272954;9482740;9671765;9712883", "class_list": "", "function": "CCR4 and BTG2 interact and have a role in cell-cycle regulation, [RefSeq, PubMed]; Crystal structure and functional properties of the human CCR4-CAF1 deadenylase complex., [RefSeq, PubMed]; Poly(A) nuclease with 3'-5' RNase activity. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in mRNA decay mediated by the major-protein-coding determinant of instability (mCRD) of the FOS gene in the cytoplasm. In the presence of ZNF335, enhances ligand-dependent transcriptional activity of nuclear hormone receptors, including RARA. The increase of ligand-dependent ESR1-mediated transcription is much smaller, if any. Mediates cell proliferation and cell survival and prevents cellular senescence., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Studied hepatic role in metabolic homeostasis of fibroblast growth factor 21(FGF21) and the 'CCR4-NOT complex' (a multisubunit protein complex composed of 'CCR4-NOT transcription complex subunit 6 like' (CNOT6L) and 'CCR4-NOT transcription complex subunit 6' (CNOT6). Results show CNOT6L plays a major role in regulation FGF21 levels., [RefSeq, PubMed]; This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7MD46;D3DWR0", "ec_number_list": [ { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0000175 3'-5'-RNA exonuclease activity;GO:0004532 RNA exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane;GO:0030014 CCR4-NOT complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006417 regulation of translation;GO:0008284 positive regulation of cell population proliferation;GO:0035279 miRNA-mediated gene silencing by mRNA destabilization;GO:0010606 positive regulation of cytoplasmic mRNA processing body assembly", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9ULM6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TA45-1", "uniprot_id": [ { "id": "INT11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TA45", "type": "external" } ], "mass": 67663.0, "length": 600, "protein_name": "Integrator complex subunit 11", "gene_name": "INTS11", "organism": "Human", "refseq_name": "integrator complex subunit 11 isoform 1", "refseq_ac": [ { "id": "NP_001243385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243385", "type": "external" } ], "gene_names_uniprotkb": "INTS11; CPSF3L; RC68", "gene_names_refseq": "CPSF3L; CPSF73L; INT11; INTS11; NEDMLOB; PSF3L; RC-68; RC68", "protein_names_uniprotkb": "Integrator complex subunit 11; 3.1.27.-; CPSF3-like protein; Cleavage and polyadenylation-specific factor 3-like protein; Int11; Protein related to CPSF subunits of 68 kDa; RC-68", "protein_names_refseq": "CPSF3-like protein; cleavage and polyadenylation specific factor 3-like; cleavage and polyadenylation-specific factor 3-like protein; integrator complex subunit 11 isoform 1; protein related to CPSF subunits of 68 kDa; related to CPSF subunits 68 kDa", "tax_id": 9606, "disease": "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (Disease Ontology:DOID:0081387)", "pathway": " (hsa:54973); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 142, "publication_id_list": "10022900;11230166;11237011;11856838;12414730;12574128;14701755;1535687;15684398;16239144;16308568;16901896;1739980;18079403;1829677;18802091;19667075;19913121;20068231;20457598;2125285;22137580;22231121;22252320;22441827;22645359;23166507;23481700;23904267;23932780;24097444;24270878;24714562;24715725;24997600;25201415;25418920;25576301;25645385;25675981;25855358;25880248;26154972;26308897;26375851;26728094;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28396433;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;2944599;29471365;29493099;29508533;29557506;29632046;29786170;30315122;30524438;30737432;30779550;30833945;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32697989;32897882;32938616;32983136;33141586;33243860;33298915;33385327;33548203;33592498;33633747;33686175;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34762484;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36454007;36869814;37054711;37080207;37938771;37980560;38570683;38976490;39032489;39032490;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder., [RefSeq, PubMed]; Human promoter directionality is determined by transcriptional initiation and the opposing activities of INTS11 and CDK9. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RNA endonuclease component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:16239144, PubMed:25201415, PubMed:28396433, PubMed:32697989, PubMed:33243860, PubMed:33548203, PubMed:34762484, PubMed:37080207, PubMed:38570683). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:32697989, PubMed:33243860, PubMed:33548203, PubMed:34762484, PubMed:37080207, PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144, PubMed:22252320, PubMed:26308897, PubMed:30737432). Within the integrator complex, INTS11 constitutes the RNA endonuclease subunit that degrades exiting nascent RNA transcripts (PubMed:28396433, PubMed:32697989, PubMed:33243860, PubMed:33548203, PubMed:34762484, PubMed:37080207, PubMed:38570683). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]., [RefSeq]; The specific heterodimeric interaction between IntS9 and IntS11 is mediated by a discrete domain present at the extreme C terminus of IntS9 and within the C terminus of IntS11, adjacent to the predicted active site of this endonuclease., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5S2;B3KPR3;B4DM87;G3V1S5;Q5TA46;Q5TA48;Q5TA52;Q5TA53;Q5TA54;Q7L3D7;Q96HY1;Q9BW36;Q9H0F9;Q9H8R5;Q9HAA6;Q9NWX9", "ec_number_list": [ { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" } ], "go_molecular_function": "GO:0016787 hydrolase activity;GO:0046872 metal ion binding;GO:0004521 RNA endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0072562 blood microparticle", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0016180 snRNA processing;GO:0034472 snRNA 3'-end processing;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q5TA45-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29400-1", "uniprot_id": [ { "id": "CO4A5_HUMAN", "url": "https://www.uniprot.org/uniprot/P29400", "type": "external" } ], "mass": 161044.0, "length": 1685, "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "organism": "Human", "refseq_name": "collagen alpha-5(IV) chain isoform 1 precursor", "refseq_ac": [ { "id": "NP_000486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000486", "type": "external" } ], "gene_names_uniprotkb": "COL4A5", "gene_names_refseq": "ASLN; ATS1; ATS; CA54; COL4A5", "protein_names_uniprotkb": "Collagen alpha-5(IV) chain", "protein_names_refseq": "collagen IV, alpha-5 polypeptide; collagen alpha-5(IV) chain isoform 1 precursor; collagen alpha-5(IV) chain; collagen of basement membrane, alpha-5 chain; collagen, type IV, alpha 5; dA149D17.3; dA24A23.1", "tax_id": 9606, "disease": "X-linked Alport syndrome (Disease Ontology:DOID:0110034); Meester-Loeys syndrome (Disease Ontology:DOID:0111861); X-linked spondyloepimetaphyseal dysplasia (Disease Ontology:DOID:0112150); stomach cancer (Disease Ontology:DOID:10534); Alport syndrome (Disease Ontology:DOID:10983); dilated cardiomyopathy (Disease Ontology:DOID:12930); proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:1287); (R-HSA-1442490); (R-HSA-1566977); (R-HSA-1650814); (R-HSA-186797); (R-HSA-2022090); (R-HSA-216083); (R-HSA-2214320); (R-HSA-2243919); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-419037); (R-HSA-8948216); (R-HSA-9010553); (R-HSA-9638630)", "pathway_count": 16, "publication_count": 350, "publication_id_list": "10022829;10049780;10094548;10209034;10339611;10366422;10438935;10479448;10508235;10543983;10551873;10561141;10563487;10593924;10596943;10605720;10640428;10673326;10673366;10684360;10713152;10809722;10811134;10862091;10934207;10966814;10982388;11004279;11013208;11054877;11084047;11119712;11158588;11223851;11237011;11259413;11313359;11518510;11572855;11577169;11713259;11739641;11782012;11847221;11927537;11964076;11980922;11986329;12211432;12225811;12237301;12369853;1237296;12473679;12475640;12482924;12496264;12538485;12579531;12585966;12646579;12682293;12765789;12784310;12807887;1311092;1323838;1348714;1352287;1363780;1376317;1376965;1400327;14500733;14602708;14715956;1484505;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15615512;1567360;15713743;15767546;1577494;15837520;1588291;15899827;15950618;1598909;16002701;16051604;16239428;16267048;16272566;16293224;16331269;1639841;16413178;16436588;16474853;16493581;16563355;16581764;16591531;1672282;16731529;16754661;16806867;16825197;1689491;16933105;1704217;17088321;171650;17322306;17339034;17367763;17588949;17604334;17943726;17968485;18059411;18446792;18487197;18559524;18599485;18622425;18710925;18775695;19075007;19502598;19564526;19693541;19706539;19729652;20033473;2004755;2005102;2010551;2045422;20470363;2059554;20690820;20705068;20813817;21251937;21376233;21593211;21642437;2169335;21789315;21878990;21935455;21967573;22134916;22241472;22382088;22493504;2253219;22539938;22842973;22884367;22933705;2307289;23217742;23374253;2339699;23481700;23555621;23583652;2364322;23746841;2380186;2412224;2420006;2430969;24522658;24715725;25242263;25328409;2537292;2543975;2548603;2551898;25576301;25597754;25645385;26154972;27600516;27862975;2809592;2834383;28435517;2845110;28510447;28832583;28860189;29093181;29137923;29242379;29263244;29408302;29557506;29786170;29964125;3038863;30389923;30429286;30779550;3082888;31085175;31154438;31222486;3173483;31844290;31848261;32157095;32161166;3223920;32350084;32488085;32502341;32897882;32938616;33141586;33592498;33936100;33968037;33981976;34171305;34211107;34405274;35051231;35154160;35318648;35580925;3595596;36010968;36215666;36241641;38253038;38400605;38433557;38671472;3872795;38978054;3905801;3938630;3992061;3997977;41816;5246001;5723342;6129847;6193777;6258630;6270089;6307276;641035;6439184;6643500;6694361;6809411;710450;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7599631;7657706;7685013;7693733;7706490;7852349;7853788;7890717;7969679;8002934;8118028;8120014;8207089;8262246;8301933;8344274;8356449;8406498;8440685;8463259;8560266;8576151;8636146;8648925;8651292;8651296;8738805;8798654;8825605;8829632;8838667;8900172;8910476;8920930;8940267;8943283;8999957;9008168;9054364;9092507;9150741;9195222;9245798;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9443892;9452056;9470928;9545296;9560306;9565552;9582318;9645947;9651395;9659899;9659900;9671947;9685393;9739761;9848783;9856810;9858236;9949188", "class_list": "", "function": "A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family. Publication Status: Online-Only, [RefSeq, PubMed]; Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic diagnosis of Alport syndrome in 16 Chinese families., [RefSeq, PubMed]; This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]., [RefSeq]; Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay., [RefSeq, PubMed]; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 7, "predicted_n_glycosites": 1, "predicted_o_glycosites": 6, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q16006;Q16126;Q6LD84;Q7Z700;Q9NUB7", "ec_number_list": [], "go_molecular_function": "GO:0030020 extracellular matrix structural constituent conferring tensile strength;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0031594 neuromuscular junction;GO:0005604 basement membrane", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0030199 collagen fibril organization", "synthesized_glycan_count": 0, "hit_score": 35.5, "record_id": "P29400-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17927-1", "uniprot_id": [ { "id": "CR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P17927", "type": "external" } ], "mass": 223663.0, "length": 2039, "protein_name": "Complement receptor type 1", "gene_name": "CR1", "organism": "Human", "refseq_name": "complement receptor type 1 isoform S precursor", "refseq_ac": [ { "id": "NP_000642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000642", "type": "external" } ], "gene_names_uniprotkb": "CR1; C3BR", "gene_names_refseq": "C3BR; C4BR; CD35; CR1; KN", "protein_names_uniprotkb": "Complement receptor type 1; C3b/C4b receptor", "protein_names_refseq": "C3-binding protein; C3b/C4b receptor; CD35 antigen; Knops blood group antigen; complement component (3b/4b) receptor 1 (Knops blood group); complement receptor 1; complement receptor type 1 isoform S precursor; complement receptor type 1", "tax_id": 9606, "disease": "malaria (Disease Ontology:DOID:12365); malaria, susceptibility to (MONDO:MONDO:0021024)", "pathway": " (hsa:1378); (R-HSA-6798695); (R-HSA-8877330); (R-HSA-977606)", "pathway_count": 4, "publication_count": 123, "publication_id_list": "10531307;10533284;1067618;11237011;11313284;11694537;11896343;11939578;11955431;12055245;12220513;1385479;1386357;14694201;1534036;16079145;16192651;16873067;16999828;1708808;17182573;17377532;17505110;19800266;21788512;22802338;23416052;23460739;23481700;23487775;23650620;2420889;24366607;2465906;2466593;2481448;25418920;2564414;25645385;25742728;25880248;25892735;26154972;26375851;26811146;26929215;26992070;27862975;27920218;28063628;28218747;28467828;28832583;28904123;29242379;29314611;2933745;293688;293746;29391424;29393594;29437277;2951479;29557506;2956252;29563915;2963069;2971659;2971757;2972794;29789417;301546;32265295;32387766;32502341;32983136;33123756;33298915;33392160;33912179;33936100;33968037;34357683;34433824;34932366;35051231;35580925;36284347;37074911;37217939;37892204;37938771;3848661;4098172;6214588;6219696;6222381;6230668;6233222;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8175757;8245463;8315383;8345200;8495193;8692836;8706338;8786315;9038722;9324355;978134", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Epstein-Barr virus., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages (PubMed:2963069). Mediates the binding by these cells of particles and immune complexes that have activated complement to eliminate them from the circulation (PubMed:2963069). Also acts in the inhibition of spontaneous complement activation by impairing the formation and function of the alternative and classical pathway C3/C5 convertases, and by serving as a cofactor for the cleavage by factor I of C3b to iC3b, C3c and C3d,g, and of C4b to C4c and C4d (PubMed:2972794, PubMed:8175757). Also plays a role in immune regulation by contributing, upon ligand binding, to the generation of regulatory T cells from activated helper T cells (PubMed:25742728)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The Molecular Mechanisms of Complement Receptor 1-It Is Complicated. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020]., [RefSeq]", "predicted_glycosites": 16, "predicted_n_glycosites": 16, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 77, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 2, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "Q16744;Q16745;Q5SR43;Q5SR45;Q9UQV2", "ec_number_list": [], "go_molecular_function": "GO:0001618 virus receptor activity;GO:0001851 complement component C3b binding;GO:0001855 complement component C4b binding;GO:0001861 complement component C4b receptor activity;GO:0004877 complement component C3b receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0044853 plasma membrane raft", "go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0032703 negative regulation of interleukin-2 production;GO:0002434 immune complex clearance;GO:0007009 plasma membrane organization;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "P17927-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14055-1", "uniprot_id": [ { "id": "CO9A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14055", "type": "external" } ], "mass": 65131.0, "length": 689, "protein_name": "Collagen alpha-2(IX) chain", "gene_name": "COL9A2", "organism": "Human", "refseq_name": "collagen alpha-2(IX) chain precursor", "refseq_ac": [ { "id": "NP_001843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001843", "type": "external" } ], "gene_names_uniprotkb": "COL9A2", "gene_names_refseq": "COL9A2; DJ39G22.4; EDM2; MED; STL5", "protein_names_uniprotkb": "Collagen alpha-2(IX) chain", "protein_names_refseq": "alpha 2 type IX collagen; collagen IX, alpha-2 polypeptide; collagen alpha-2(IX) chain precursor; collagen alpha-2(IX) chain; collagen, type IX, alpha 2", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); Fanconi anemia complementation group S (Disease Ontology:DOID:0060979); multiple epiphyseal dysplasia 2 (Disease Ontology:DOID:0070298); Stickler syndrome (Disease Ontology:DOID:0080046); colorectal carcinoma (Disease Ontology:DOID:0080199); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); osteochondrodysplasia (Disease Ontology:DOID:2256); ovarian cancer (Disease Ontology:DOID:2394); breast adenocarcinoma (Disease Ontology:DOID:3458); breast carcinoma (Disease Ontology:DOID:3459); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); cervical cancer (Disease Ontology:DOID:4362); stomach carcinoma (Disease Ontology:DOID:5517); hereditary breast ovarian cancer syndrome (Disease Ontology:DOID:5683); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); degenerative disc disease (Disease Ontology:DOID:90); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); Stickler syndrome, type 5 (MONDO:MONDO:0013666)", "pathway": " (hsa:1298); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-186797); (R-HSA-2022090); (R-HSA-216083); (R-HSA-3000178); (R-HSA-419037); (R-HSA-8948216)", "pathway_count": 9, "publication_count": 237, "publication_id_list": "10022829;10049780;10209034;10339611;10364514;10366422;10411504;10438935;10479448;10508235;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11084047;11119712;11158588;11237011;11259413;11518510;11565064;11572855;11577169;11713259;11927537;11980922;12225811;12369853;12473679;12475640;12482924;12496264;12538485;12579531;12585966;12646579;12682293;12765789;12807887;1311092;1323838;1376317;1400327;14500733;14602708;14715956;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15615512;15713743;15767546;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16267048;16293224;16331269;1639841;16436588;16474853;16493581;16591531;16731529;16754661;16825197;16933105;1704217;17088321;171650;17339034;17367763;17588949;17604334;17943726;17968485;18059411;18487197;18559524;18622425;18710925;18775695;19075007;19502598;19564526;19693541;20033473;2005102;2010551;20470363;2059554;20705068;20813817;21251937;21376233;21593211;21642437;21671392;2169335;21789315;21878990;21935455;21967573;22134916;22241472;22382088;2253219;22539938;22884367;22933705;2307289;23374253;23481700;23583652;2364322;2412224;2420006;2430969;24715725;25328409;2537292;2543975;2548603;25505266;2551898;25597754;27846572;2809592;2834383;28411811;28435517;2845110;28887846;28904123;29093181;29137923;29263244;29408302;29557506;29632711;29964125;3038863;30389923;31085175;31090205;3173483;31844290;3223920;32419506;33356723;35051231;3905801;3938630;6193777;6258630;6270089;6307276;6439184;6694361;6809411;710450;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7852349;7890717;8002934;8118028;8207089;8262246;8344274;8440685;8454052;8463259;8560266;8576151;8798654;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9443892;9545296;9560306;9565552;9582318;9651395;9685393;9707347;9739761;9856810;9858236;9949188", "class_list": "glycogene", "function": "Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene., [RefSeq, PubMed]; Homozygous type IX collagen variants, COL9A1, COL9A2, and COL9A3, causing recessive Stickler syndrome, expand the disease phenotype., [RefSeq, PubMed]; Lack of association between COL1A1 and COL9A2 single nucleotide polymorphisms and intervertebral disc degeneration., [RefSeq, PubMed]; Structural component of hyaline cartilage and vitreous of the eye., [UniProtKB]; This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1053, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 26, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RMP9", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005594 collagen type IX trimer", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "Q14055-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3A0-1", "uniprot_id": [ { "id": "COQ4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3A0", "type": "external" } ], "mass": 29657.0, "length": 265, "protein_name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "gene_name": "COQ4", "organism": "Human", "refseq_name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_057119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057119", "type": "external" } ], "gene_names_uniprotkb": "COQ4; CGI-92", "gene_names_refseq": "CGI-92; COQ10D7; COQ4; SPAX10", "protein_names_uniprotkb": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial; 4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase; 4.1.1.130; Coenzyme Q biosynthesis protein 4 homolog", "protein_names_refseq": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase; coenzyme Q biosynthesis protein 4 homolog; coenzyme Q4 homolog; ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1 precursor; ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "tax_id": 9606, "disease": "coenzyme Q10 deficiency disease (Disease Ontology:DOID:0050730); spastic ataxia (Disease Ontology:DOID:0050952); primary coenzyme Q10 deficiency 7 (Disease Ontology:DOID:0070244); spastic ataxia 10, autosomal recessive (MONDO:MONDO:0958009)", "pathway": " (hsa:51117); (R-HSA-2142789)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10501970;10777520;11237011;11469793;12721307;15153069;16262699;16624818;17374725;17916383;18474229;21540551;21944752;22368301;23186163;23354120;24270420;25152161;25339443;25418920;25658047;26741492;26811146;26992070;27155576;27499296;27846572;27920218;28228285;28832583;28904123;29242379;29393594;29493099;30315122;30659264;31396399;31530632;31844290;31848261;32157095;32265295;32707086;32938616;33141586;33215859;33691108;33704555;33912179;33936100;33968037;33981976;34211107;34471290;36047608;36241641;36306796;36658222;38013626;38014483;38295803;38425362;39894887;8621692;9083049", "class_list": "", "function": "COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells., [RefSeq, PubMed]; COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency., [RefSeq, PubMed]; Haploinsufficiency in COQ4 resulted in reduced COQ4 expression, CoQ10 content and biosynthetic rate, and activities of respiratory chain complex II+III., [RefSeq, PubMed]; Homologous to Coq4p in S.cerevisiae, [RefSeq, PubMed]; Human ortholog of Saccharomyces cerevisiae COQ4 was cloned and characterized., [RefSeq, PubMed]; Lyase that catalyzes the C1-decarboxylation of 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoic acid into 2-methoxy-6-(all-trans-decaprenyl)phenol during ubiquinone biosynthesis., [UniProtKB, HAMAP, PubMed, PubMed]; This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8WBK8;B2R958;Q5T4B8;Q96EW4", "ec_number_list": [ { "id": "2.1.1.201", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.201", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "1.14.99.60", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.60", "type": "external" }, { "id": "1.14.13.253", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.253", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.114", "type": "external" }, { "id": "2.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.64", "type": "external" }, { "id": "1.14.15.45", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.45", "type": "external" }, { "id": "1.14.15.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.46", "type": "external" }, { "id": "4.1.1.130", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.130", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0120539 4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase activity", "go_cellular_component": "GO:0031314 extrinsic component of mitochondrial inner membrane;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006744 ubiquinone biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9Y3A0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTJ3-1", "uniprot_id": [ { "id": "SMC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTJ3", "type": "external" } ], "mass": 147182.0, "length": 1288, "protein_name": "Structural maintenance of chromosomes protein 4", "gene_name": "SMC4", "organism": "Human", "refseq_name": "structural maintenance of chromosomes protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001275682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275682", "type": "external" } ], "gene_names_uniprotkb": "SMC4; CAPC; SMC4L1", "gene_names_refseq": "CAP-C; CAPC; SMC-4; SMC4L1; SMC4", "protein_names_uniprotkb": "Structural maintenance of chromosomes protein 4; Chromosome-associated polypeptide C; SMC protein 4; SMC-4; XCAP-C homolog; hCAP-C", "protein_names_refseq": "SMC protein 4; SMC4 structural maintenance of chromosomes 4-like 1; chromosome-associated polypeptide C; structural maintenance of chromosomes protein 4 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10051); (R-HSA-2299718); (R-HSA-2514853)", "pathway_count": 3, "publication_count": 175, "publication_id_list": "10.1101/2023.09.13.557529;10319587;10958694;11136719;11230166;11237011;12042320;12086618;12208845;14607834;15104674;15146063;15302935;15572404;15750587;16115862;16565220;16964243;17066080;17081983;17308301;17322306;17356064;18160138;18211953;18367646;18452278;18491316;18669648;18691976;18707149;18718915;18767875;18977199;19007248;19413330;19415658;19481522;19608861;19615748;19651622;19664994;19664995;19690332;19691289;20058876;20068231;20230923;20551165;20551166;20622854;20966048;21498573;21515671;21911480;23186163;23481700;23498719;24366607;24714562;24715725;25418920;25469497;25505266;25576301;25645385;25810538;25880248;25892735;26024233;26154972;26375851;26728094;26811146;26929215;26992070;27397612;27600516;27846572;27893789;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28860189;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29671580;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30568303;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34093574;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35005988;35051231;35251023;35318648;35561310;35580925;36010968;36181338;36215666;36241641;36284347;36580660;37170988;37217939;37938771;38403332;38665916;40914422;9774278;9789013", "class_list": "", "function": "Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases., [UniProtKB, PubMed, UniProtKB, UniProtKB]; FoxO1 promotes ovarian cancer by increasing transcription and METTL14-mediated m[6]A modification of SMC4., [RefSeq, PubMed]; Screening Differential CircRNAs Expression Profiles Reveals the Regulatory Role of the has_circTPT1_003-has-miR-218-5p-CCNE2/SMC4 Signaling Axis in Bladder Carcinoma Progression., [RefSeq, PubMed]; Structural Maintenance of Chromosome Protein 4 Promotes the Progression of Cardia Adenocarcinoma via Regulation of the Wnt/beta-catenin Signaling Pathway., [RefSeq, PubMed]; TREM-1 induces pyroptosis in cardiomyocytes by activating NLRP3 inflammasome through the SMC4/NEMO pathway. Erratum:[FEBS J. 2025 Apr;292(8):2145. doi: 10.1111/febs.70066. PMID: 40098332], [RefSeq, PubMed]; This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NLT9;D3DNL8;O95752;Q8NDL4;Q9UNT9", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:1905820 positive regulation of chromosome separation;GO:0051984 positive regulation of chromosome segregation;GO:0051301 cell division;GO:0021987 cerebral cortex development;GO:0007076 mitotic chromosome condensation", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "Q9NTJ3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTW3-1", "uniprot_id": [ { "id": "COG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTW3", "type": "external" } ], "mass": 108978.0, "length": 980, "protein_name": "Conserved oligomeric Golgi complex subunit 1", "gene_name": "COG1", "organism": "Human", "refseq_name": "conserved oligomeric Golgi complex subunit 1", "refseq_ac": [ { "id": "NP_061184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061184", "type": "external" } ], "gene_names_uniprotkb": "COG1; KIAA1381; LDLB", "gene_names_refseq": "CDG2G; COG1; LDLB", "protein_names_uniprotkb": "Conserved oligomeric Golgi complex subunit 1; COG complex subunit 1; Component of oligomeric Golgi complex 1", "protein_names_refseq": "COG complex subunit 1; conserved oligomeric Golgi complex protein 1; conserved oligomeric Golgi complex subunit 1; low density lipoprotein receptor defect B complementing", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIg (Disease Ontology:DOID:0070259)", "pathway": " (hsa:9382); (R-HSA-6807878); (R-HSA-6811438); (R-HSA-6811440); (R-HSA-9918481)", "pathway_count": 5, "publication_count": 251, "publication_id_list": "10052452;10189370;10209123;10318838;10445031;10559959;10637310;10652308;10652516;10679020;10761932;10865125;10903204;10921873;10990452;11035033;11172815;11237011;11285137;11303027;11306556;11346801;11359012;11461920;11689439;11689559;11703931;11718716;11726511;11747608;11748249;11827983;11839770;11929878;11980916;12011112;12047556;12070132;12377769;12383348;12388752;12429822;12620188;12620189;12634853;14519844;14580338;14654841;14718928;14742712;14762106;15029241;15037235;15077113;15077114;15084397;15128430;15269279;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16129887;1631136;16537452;16571679;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17253781;17274799;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18077418;18086915;18182008;18195106;18243103;18256213;18283113;18367545;18451304;18524849;18664496;18691976;18809720;18946081;1898986;19008299;19015319;19109418;19164740;19296914;19490898;19536132;1957170;19620288;19631211;19691289;19715559;19758564;20163571;20357002;20427317;20637885;20685960;20874812;21183348;21219331;21421921;21436057;21689688;21807881;21844168;21911577;22013193;22094269;22188167;22304919;22335553;22354037;22581368;22717455;23091056;23186163;23239882;23378023;23437303;23462996;23839779;23936529;23940353;24119662;24715725;24794632;24806965;25343031;25436559;25492864;25708460;26092250;26154972;26811146;26992070;27108190;27412679;27846572;28218747;28904123;29242379;29437277;29493099;29557506;29902443;30315122;30410026;30484775;30599162;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33177556;33298915;33392160;33592498;33633747;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34932366;35051231;35215846;35318648;35580925;36010968;36241641;36284347;37938771;38253038;7691276;7909812;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8670882;8945478;8991093;9050864;9114004;9150144;9177194;9230071;9244307;9288971;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "glycogene", "function": "A novel mutation in COG1 was found in two patients with a cerebrocostomandibular-like syndrome., [RefSeq, PubMed]; Chronic renal patients with more atherogenic lipoprotein LDL B phenotype are in advanced state of oxidative stress compared with control subjects., [RefSeq, PubMed]; Required for normal Golgi function., [UniProtKB]; Sec34 is implicated in traffic from the endoplasmic reticulum to the Golgi and exists in a complex with GTC-90 and ldlBp, [RefSeq, PubMed]; The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]., [RefSeq]; This study reports a novel set of Dengue virus (DENV) NS1-interacting host cell proteins in the HepG2 cell line and proposes possible roles for human NEK2, TAO1, and COG1 in DENV infection., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1219, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9NPV9;Q9P2G6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0032588 trans-Golgi network membrane;GO:0017119 Golgi transport complex", "go_biological_process": "GO:0015031 protein transport;GO:0007030 Golgi organization;GO:0000301 retrograde transport, vesicle recycling within Golgi;GO:0006891 intra-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 25.4, "record_id": "Q8WTW3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUR4-1", "uniprot_id": [ { "id": "TCAB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUR4", "type": "external" } ], "mass": 59309.0, "length": 548, "protein_name": "Telomerase Cajal body protein 1", "gene_name": "WRAP53", "organism": "Human", "refseq_name": "telomerase Cajal body protein 1", "refseq_ac": [ { "id": "NP_001137462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137462", "type": "external" } ], "gene_names_uniprotkb": "WRAP53; TCAB1; WDR79", "gene_names_refseq": "DKCB3; TCAB1; WDR79; WRAP53", "protein_names_uniprotkb": "Telomerase Cajal body protein 1; WD repeat-containing protein 79; WD40 repeat-containing protein antisense to TP53 gene; WRAP53beta", "protein_names_refseq": "WD repeat-containing protein 79; WD repeat-containing protein WRAP53; WD40 protein Wrap53; WD40 repeat-containing protein antisense to TP53; WD40 repeat-containing protein encoding RNA antisense to p53; WRAP53beta; telomerase Cajal body protein 1", "tax_id": 9606, "disease": "autosomal recessive dyskeratosis congenita 3 (Disease Ontology:DOID:0070019); breast cancer (Disease Ontology:DOID:1612); rectal benign neoplasm (Disease Ontology:DOID:1984); motor neuron disease (Disease Ontology:DOID:231); ovarian cancer (Disease Ontology:DOID:2394); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); hepatocellular carcinoma (Disease Ontology:DOID:684); glottis squamous cell carcinoma (Disease Ontology:DOID:7031); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:55135); (R-HSA-171319); (R-HSA-174430); (R-HSA-390471)", "pathway_count": 4, "publication_count": 112, "publication_id_list": "11237011;12502735;12699629;15060173;15189140;15302935;16314528;16339074;16522649;16964243;17081983;17172855;17322306;17395830;17525332;17683073;17693683;18220336;18358808;18452278;18491316;18523010;18669648;18676680;18775504;18978339;19011634;19179534;19250907;19285445;19383767;19413330;19415658;19651622;19664994;19690332;19734544;19854130;20068231;20166139;20351177;20404094;20524933;20639858;21072240;21098288;21205863;21406692;21602826;21995946;22547674;22579284;22871736;23103865;23186163;23301498;23481700;23657261;23747015;24275569;24318571;24715725;24756126;25128433;25271372;25342745;25418920;25467444;25512560;25576301;25620558;26170453;26734725;27525486;27715493;28218747;28228285;28334750;28607398;28832583;29178645;29393594;29695869;29774655;29804836;30026550;30524438;31324691;31723267;31844290;32488085;32502341;32938616;33028529;33298915;33592498;33912179;33968037;33981976;34087483;34171305;34211107;35051231;35580925;35642155;36010968;36116037;36706151;37267110;37938771;6693436;9819444", "class_list": "", "function": "Common variation in TP53 or WDR79 could be associated with ER negative breast cancers. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Differential effects of WRAP53 transcript variants on non-small cell lung cancer cell behaviors. Publication Status: Online-Only, [RefSeq, PubMed]; Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17., [RefSeq, PubMed]; Nuclear WRAP53 promotes neuronal survival and functional recovery after stroke. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29695869, PubMed:29804836). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC) (PubMed:19285445, PubMed:20351177, PubMed:29695869, PubMed:29804836). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes (PubMed:19179534, PubMed:20351177, PubMed:26170453, PubMed:29695869). In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex (PubMed:27525486, PubMed:29804836). Acts by specifically binding the CAB box of the TERC RNA and controlling the folding of the CR4/CR5 region of the TERC RNA, a critical step for telomerase activity (PubMed:29804836). In addition, also controls telomerase holoenzyme complex localization to Cajal body (PubMed:22547674). During S phase, required for delivery of TERC to telomeres during S phase and for telomerase activity (PubMed:29804836). In addition to its role in telomere maintenance, also required for Cajal body formation, probably by mediating localization of scaRNAs to Cajal bodies (PubMed:19285445, PubMed:21072240). Also plays a role in DNA repair: phosphorylated by ATM in response to DNA damage and relocalizes to sites of DNA double-strand breaks to promote the repair of DNA double-strand breaks (PubMed:25512560, PubMed:27715493). Acts by recruiting the ubiquitin ligase RNF8 to DNA breaks and promote both homologous recombination (HR) and non-homologous end joining (NHEJ) (PubMed:25512560, PubMed:27715493)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TCAB1 prevents nucleolar accumulation of the telomerase RNA to facilitate telomerase assembly., [RefSeq, PubMed]; This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]; [Effect of WRAP53 beta Targeted Co-Inhibitory Pathways Based on Comprehensive Bioinformatics Analysis in Treating Squamous Cell Carcinoma of the Head and Neck]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPR9;D3DTQ4;Q08ET9;Q9NW09", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0051087 protein-folding chaperone binding;GO:0031625 ubiquitin protein ligase binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0035861 site of double-strand break;GO:0015030 Cajal body", "go_biological_process": "GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0090666 scaRNA localization to Cajal body;GO:0034337 RNA folding;GO:0032203 telomere formation via telomerase;GO:0090671 telomerase RNA localization to Cajal body", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q9BUR4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92520-1", "uniprot_id": [ { "id": "FAM3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92520", "type": "external" } ], "mass": 24680.0, "length": 227, "protein_name": "Protein FAM3C", "gene_name": "FAM3C", "organism": "Human", "refseq_name": "protein FAM3C precursor", "refseq_ac": [ { "id": "NP_001035109", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035109", "type": "external" } ], "gene_names_uniprotkb": "FAM3C; GS3786; ILEI", "gene_names_refseq": "FAM3C; GS3786; ILEI", "protein_names_uniprotkb": "Protein FAM3C; Interleukin-like EMT inducer", "protein_names_refseq": "family with sequence similarity 3 member C; interleukin-like EMT inducer; interleukin-like epithelial-mesenchymal transition inducer; predicted osteoblast protein; protein FAM3C precursor; protein FAM3C", "tax_id": 9606, "disease": "", "pathway": " (hsa:10447); (R-HSA-114608)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "11237011;12160727;1435334;14630798;15297306;16959614;17322306;18446792;19015638;22898188;23481700;23640497;24714562;25502872;25576301;25645385;26992070;27397612;27600516;27846572;28228285;28467828;28832583;28904123;29242379;29314611;29437277;29557506;29632711;29930882;30484775;30626607;31154438;31530632;31611695;31844290;31848261;31937595;32157095;32350084;32357974;32488085;32938616;32983136;33298915;33592498;33596971;33729094;33912179;33968037;33981976;34078123;34087483;34357683;34378027;34405274;34433824;35051231;35251023;35580925;36010968;36241641;36632230;37938771;38117489;38665916;6457647;8467233", "class_list": "", "function": "A cytokine-like protein found in almost all tissues., [RefSeq, PubMed]; DEAH-box polypeptide 32 promotes hepatocellular carcinoma progression via activating the beta-catenin pathway., [RefSeq, PubMed]; FAM3C in Cancer-Associated Adipocytes Promotes Breast Cancer Cell Survival and Metastasis., [RefSeq, PubMed]; FAM3C in circulating tumor-derived extracellular vesicles promotes non-small cell lung cancer growth in secondary sites. Publication Status: Online-Only, [RefSeq, PubMed]; ILEI is overexpressed and/or altered in intracellular localization in multiple human tumors., [RefSeq, PubMed]; May be involved in retinal laminar formation. Promotes epithelial to mesenchymal transition., [UniProtKB]; The FAM3C locus that encodes interleukin-like EMT inducer (ILEI) is frequently co-amplified in MET-amplified cancers and contributes to invasiveness. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010]., [RefSeq]; Transcriptional downregulation of FAM3C/ILEI in the Alzheimer's brain., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NDN2;A8K3R7", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0031089 platelet dense granule lumen", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q92520-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56746-1", "uniprot_id": [ { "id": "CLD15_HUMAN", "url": "https://www.uniprot.org/uniprot/P56746", "type": "external" } ], "mass": 24356.0, "length": 228, "protein_name": "Claudin-15", "gene_name": "CLDN15", "organism": "Human", "refseq_name": "claudin-15", "refseq_ac": [ { "id": "NP_001172009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001172009", "type": "external" } ], "gene_names_uniprotkb": "CLDN15", "gene_names_refseq": "CLDN15", "protein_names_uniprotkb": "Claudin-15", "protein_names_refseq": "claudin-15", "tax_id": 9606, "disease": "", "pathway": " (hsa:24146); (R-HSA-420029)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "11237011;11447115;11964389;12055082;12953056;13129853;16129888;19690332;29331515;31188544;31605016;34131154;35650657;36008380;36114674", "class_list": "", "function": "CLDN15 is a novel diagnostic marker for malignant pleural mesothelioma. Publication Status: Online-Only, [RefSeq, PubMed]; Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Differential regulation of claudin-2 and claudin-15 expression in children and adults with malabsorptive disease., [RefSeq, PubMed]; Forms paracellular channels: polymerizes in tight junction strands with cation- and water-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:12055082, PubMed:13129853, PubMed:31188544, PubMed:35650657, PubMed:36008380). In intestinal epithelium, allows for sodium and water fluxes from the peritoneal side to the lumen of the intestine to regulate nutrient absorption and intestinal morphogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]., [RefSeq]; Tight junction channels claudin-10b and claudin-15: Functional mapping of pore-lining residues., [RefSeq, PubMed]; Unique structural features of claudin-5 and claudin-15 lead to functionally distinct tight junction strand architecture., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPB5", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity;GO:0160187 paracellular tight junction channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0016328 lateral plasma membrane;GO:0070160 tight junction", "go_biological_process": "GO:1904729 regulation of intestinal lipid absorption;GO:0006811 monoatomic ion transport;GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules;GO:0160184 paracellular transport;GO:1903985 regulation of intestinal D-glucose absorption", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "P56746-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13190-1", "uniprot_id": [ { "id": "STX5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13190", "type": "external" } ], "mass": 39673.0, "length": 355, "protein_name": "Syntaxin-5", "gene_name": "STX5", "organism": "Human", "refseq_name": "syntaxin-5 isoform 2", "refseq_ac": [ { "id": "NP_001231595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231595", "type": "external" } ], "gene_names_uniprotkb": "STX5; STX5A", "gene_names_refseq": "CDG2AA; SED5; STX5A; STX5", "protein_names_uniprotkb": "Syntaxin-5", "protein_names_refseq": "syntaxin 5A; syntaxin-5 isoform 2", "tax_id": 9606, "disease": "congenital disorder of glycosylation type II (Disease Ontology:DOID:0050571); congenital disorder of glycosylation, type IIaa (MONDO:MONDO:0957540)", "pathway": " (hsa:6811); (R-HSA-204005); (R-HSA-5694530); (R-HSA-6807878); (R-HSA-6811438); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9013408); (R-HSA-9609523)", "pathway_count": 9, "publication_count": 449, "publication_id_list": "10037681;10052452;10189370;10232922;10318838;10445031;10490598;10523665;10523675;10526156;10559958;10559959;10579713;10619026;10652252;10652265;10652308;10652516;10679020;10699171;10747087;10761932;10788476;10825291;10873388;10903204;10921873;10982397;11035026;11035033;11058585;11085924;11172815;11207612;11237011;11285137;11306556;11373293;11396949;11431473;11432776;11461920;11606631;11672528;11680691;11689559;11689693;11703931;11704860;11718716;11726511;11748249;11804589;11804590;11864571;11884391;11912491;11927603;11967128;12011112;12047556;12070132;12071859;12093360;12177196;12195014;12221077;12221096;12235121;12237308;12376551;12383348;12388752;12429822;12531887;12634853;12650940;12857875;12877655;14512443;14654841;14742712;15023524;15037235;15064355;15107133;15133129;15302923;15342493;15485661;15504911;15601624;15611138;15616190;15632110;15708368;15718469;15728195;15758030;15813748;15850391;15866170;15878873;16030262;16112081;16116428;16129679;16184169;16217026;16303754;1631136;16339170;16467373;16495487;16519628;16624868;16630611;16633337;16723730;16776779;16777091;16777452;16777849;1680566;16862148;16896804;16912714;16914516;16926190;16940185;16959974;17005010;17010120;17027967;17038314;17077126;17192411;17253781;17274799;17287728;17316621;17360540;17382883;17429068;17451557;17499046;17562788;17562871;17607000;17684057;17702745;17760859;17765681;17804252;17927562;17932950;17942708;17956946;17976533;18025080;18086915;18158243;18182008;18218625;18256213;18283111;18283113;18287528;18451304;18477612;18524849;18669648;18809720;18829452;18843296;1898986;19015319;19109418;19164740;19265014;19269366;19296914;19494238;19536132;19566487;1957170;19581409;19605563;19631211;19635168;19638414;19656848;19673492;19713215;19715559;19758564;20030946;20101212;20112406;20163571;20357002;20375064;20400958;20427317;20477988;20533886;20545907;20591975;20628200;20637885;20660154;20676083;20679433;20679435;20805473;20874812;20966969;21148482;21219331;21351730;21444755;21454492;21466504;21478858;21525241;21532587;21565175;21576392;21621533;21636303;21689688;21699497;21715015;21743475;21757538;21807881;21844168;21865595;21878990;21936715;22013193;22094269;22096251;22157747;22188167;22298643;22304919;22305756;22673745;22675024;22734669;22790947;22911862;22992742;23041287;23091056;23129660;23142665;23200924;23239882;23246001;23255595;23378023;23378591;23434736;23462996;23479643;23533635;23572525;23698585;23701949;23839779;23852824;23864707;23870313;23936529;23940353;24086303;24119662;24128008;24259668;24335996;24352656;24392163;24397554;24659802;24806965;24917561;24933155;25179605;25202031;25211221;25406594;25415308;25425145;25436559;25492864;25535373;25576301;25586378;25619252;25619253;25704760;25708460;25713138;26371245;26529257;26675233;26811146;26887924;26992070;27145964;27193484;27216196;27226539;27458190;27481945;27795424;27846572;27920218;27986909;28063628;28104892;28112683;28196833;28228285;28510447;28584191;28832583;28834231;28904123;29146911;29242231;29242379;29393594;29463886;29557506;29632046;29632711;29786170;30429286;30779550;31092671;31105010;31154438;31530632;31844290;31848261;31871319;31998317;32157095;32161166;32203420;32265295;32350084;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33968037;34171305;34229054;34711829;34779586;34932366;35051231;35081689;35154160;35251023;35580925;36215666;36241641;36284347;37938771;38492777;7476457;7479768;7673236;7691276;7721814;7753201;8001155;8021274;8128252;8132710;8221884;8253837;8505331;8537347;8543060;8571126;8617235;8620540;8636227;8643598;8649427;8662891;8663406;8756646;8769096;8807639;8810315;8816443;8939998;8945478;8991093;9013646;9094723;9111050;9113980;9114004;9150144;9177194;9188044;9244307;9288971;9305890;9307973;9323141;9380700;9382863;9395526;9405360;9418861;9472029;9476900;9490638;9490716;9497316;9510256;9535835;9548756;9647643;9653114;9659915;9670022;9671725;9707577;9751720;9792683;9822605;9829970;9915833;9990005", "class_list": "", "function": "(Microbial infection) Required for the efficient production of infectious virion during human cytomegalovirus infection. Mechanistically, participates in the formation of the cytoplasmic viral assembly compartment where tegument acquisition and envelopment occur., [UniProtKB, PubMed]; Human antigen R transfers miRNA to Syntaxin 5 to synergize miRNA export from activated macrophages., [RefSeq, PubMed]; Mediates endoplasmic reticulum to Golgi transport. Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus., [UniProtKB, UniProtKB]; Required for Golgi to endoplasmic reticulum retrogade transport, and for intra-Golgi transport., [UniProtKB, PubMed]; Serum anti-STX5 autoantibody, which was discovered by a proteomic approach, is a potential new serum marker for the diagnosis of endometriosis., [RefSeq, PubMed]; Syntaxin 5 determines Weibel-Palade body size and von Willebrand factor secretion by controlling Golgi architecture. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitting specific synaptic vesicle docking and fusion. The encoded protein regulates endoplasmic reticulum to Golgi transport and plays a critical role in autophagy. Autoantibodies targeting the encoded protein may be a diagnostic marker for endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8T2;F8W8Q9;Q5U0D4;Q7Z3T6;Q9BUG1", "ec_number_list": [], "go_molecular_function": "GO:0045296 cadherin binding;GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0045732 positive regulation of protein catabolic process;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 45.2, "record_id": "Q13190-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5HYK3-1", "uniprot_id": [ { "id": "COQ5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5HYK3", "type": "external" } ], "mass": 37140.0, "length": 327, "protein_name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "gene_name": "COQ5", "organism": "Human", "refseq_name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_115690", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115690", "type": "external" } ], "gene_names_uniprotkb": "COQ5", "gene_names_refseq": "COQ10D9; COQ5", "protein_names_uniprotkb": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial; 2.1.1.201; Ubiquinone biosynthesis methyltransferase COQ5", "protein_names_refseq": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor; 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial; coenzyme Q5 homolog, methyltransferase; ubiquinone biosynthesis methyltransferase COQ5, mitochondrial", "tax_id": 9606, "disease": "coenzyme Q10 deficiency disease (Disease Ontology:DOID:0050730); primary coenzyme Q10 deficiency 9 (Disease Ontology:DOID:0112138)", "pathway": " (hsa:84274); (R-HSA-2142789)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10501970;10777520;11237011;12721307;15153069;16262699;16624818;17374725;17916383;20877624;21540551;21944752;23354120;23481700;24270420;25152161;25339443;25576301;26992070;27155576;27499296;27846572;27920218;28063628;28218747;28228285;28832583;28904123;29044765;29242379;29393594;29508533;29632046;30315122;30484775;30833945;31154438;31217245;31530632;31844290;32161166;32502341;32707086;32897882;32938616;32983136;33592498;33912179;34087483;34171305;34471290;34561969;35494241;35614220;36215666;36241641;36284347;36306796;36658222;38425362;40914422;8621692;9083049", "class_list": "", "function": "Methyltransferase required for the conversion of 2-decaprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-decaprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, HAMAP, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The results that knockdown of the COQ5 gene reduced CoQ10 levels further indicated the critical role of COQ5 in the biosynthesis of CoQ10., [RefSeq, PubMed]; This is the first report of primary CoQ10 deficiency caused by loss of function of COQ5, with delineation of the clinical, laboratory, histological, and molecular features, and insights regarding targeted treatment with CoQ10 supplementation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDU9;B3GK62;B4DEJ4;Q32Q28;Q53HH0;Q96LV1;Q9BSP8", "ec_number_list": [ { "id": "2.1.1.201", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.201", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "1.14.99.60", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.60", "type": "external" }, { "id": "1.14.13.253", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.253", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.114", "type": "external" }, { "id": "2.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.64", "type": "external" }, { "id": "1.14.15.45", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.45", "type": "external" }, { "id": "1.14.15.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.46", "type": "external" }, { "id": "4.1.1.130", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.130", "type": "external" } ], "go_molecular_function": "GO:0008425 2-methoxy-6-polyprenyl-1,4-benzoquinol methyltransferase activity;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0031314 extrinsic component of mitochondrial inner membrane;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006744 ubiquinone biosynthetic process;GO:0032259 methylation;GO:0042181 ketone biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q5HYK3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61328-1", "uniprot_id": [ { "id": "FGF12_HUMAN", "url": "https://www.uniprot.org/uniprot/P61328", "type": "external" } ], "mass": 27399.0, "length": 243, "protein_name": "Fibroblast growth factor 12", "gene_name": "FGF12", "organism": "Human", "refseq_name": "fibroblast growth factor 12 isoform 2", "refseq_ac": [ { "id": "NP_004104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004104", "type": "external" } ], "gene_names_uniprotkb": "FGF12; FGF12B; FHF1", "gene_names_refseq": "DEE47; EIEE47; FGF12B; FGF12; FHF1", "protein_names_uniprotkb": "Fibroblast growth factor 12; FGF-12; FHF-1; Fibroblast growth factor homologous factor 1; Myocyte-activating factor", "protein_names_refseq": "fibroblast growth factor 12 isoform 2; fibroblast growth factor 12B; fibroblast growth factor FGF-12b; fibroblast growth factor homologous factor 1; myocyte-activating factor", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); hypertension (Disease Ontology:DOID:10763); transient cerebral ischemia (Disease Ontology:DOID:224); granulosa cell tumor (Disease Ontology:DOID:2999); serous cystadenocarcinoma (Disease Ontology:DOID:3114); mucinous cystadenocarcinoma (Disease Ontology:DOID:3603)", "pathway": " (hsa:2257); (R-HSA-5576892)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10049777;11237011;11290418;1309946;14500339;15000524;18184654;19406745;21127204;21566136;21817159;22054663;22514276;23804213;25892735;27164707;27830185;29242379;29699863;31324691;33639159;33982289;36029553;8107964;8790420", "class_list": "glycogene", "function": "Ca(2+)-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors., [RefSeq, PubMed]; Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation., [RefSeq, PubMed]; Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation., [UniProtKB, PubMed]; Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series., [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 336, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6B7;B2R976;O35339;P70376;Q8TBG5;Q92912;Q93001", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0017080 sodium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0007399 nervous system development;GO:0007507 heart development;GO:0007254 JNK cascade", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P61328-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99715-1", "uniprot_id": [ { "id": "COCA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99715", "type": "external" } ], "mass": 333147.0, "length": 3063, "protein_name": "Collagen alpha-1(XII) chain", "gene_name": "COL12A1", "organism": "Human", "refseq_name": "collagen alpha-1(XII) chain long isoform precursor", "refseq_ac": [ { "id": "NP_004361", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004361", "type": "external" } ], "gene_names_uniprotkb": "COL12A1; COL12A1L", "gene_names_refseq": "BA209D8.1; BTHLM2; COL12A1L; COL12A1; DJ234P15.1; EDSMYP; UCMD2", "protein_names_uniprotkb": "Collagen alpha-1(XII) chain", "protein_names_refseq": "collagen alpha-1(XII) chain long isoform precursor; collagen alpha-1(XII) chain; collagen type XII proteoglycan; collagen, type XII, alpha 1", "tax_id": 9606, "disease": "Ullrich congenital muscular dystrophy 2 (Disease Ontology:DOID:0060948); Bethlem myopathy 2 (Disease Ontology:DOID:0061201)", "pathway": " (hsa:1303); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-8948216)", "pathway_count": 5, "publication_count": 148, "publication_id_list": "37268159;10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10049780;10479448;10551873;10596943;10809722;10934207;10966814;11013208;11119712;11237011;11577169;11927537;12473679;12475640;12482924;12579531;12646579;1323838;1400327;1427837;14500733;14602708;15005656;15044469;15257288;15265795;1577494;15837520;15950618;16591531;16825197;1704217;17088321;171650;18487197;18566446;18622425;19075007;19117535;19159218;19693541;2005102;20068231;20470363;21081667;21593211;2169335;21878990;21935455;21967573;22241472;22382088;2253219;22661428;2307289;23090970;23584533;24190977;24334604;24334769;2537292;2543975;2548603;25505266;2551898;25576301;25645385;26740625;27397612;27726376;27846572;27862975;2834383;2845110;29242379;29393594;29557506;29741879;29769354;29786170;29789417;3038863;30429286;30459171;30484775;3173483;31844290;32157095;32161166;3223920;32337544;32387766;32897882;32938616;32983136;33392160;33592498;33633747;33912179;33968037;33981976;34087483;34171305;34185709;34509645;34517516;35051231;35580925;35933466;36010968;36241641;36284347;36694230;37074911;37458870;37506150;37938771;38253038;38665916;3905801;3938630;39534244;6258630;6270089;6307276;6694361;6809411;710450;7890717;8207089;8463259;8576151;8920930;8999957;9008168;9054364;9092507;9143499;9344363;9545296;9560306;9582318;9651395;9826181;9856810", "class_list": "", "function": "Bioinformatics analysis identified MMP14 and COL12A1 as immune-related biomarkers associated with pancreatic adenocarcinoma prognosis., [RefSeq, PubMed]; Epigenetic dysregulation-mediated COL12A1 upregulation predicts worse outcome in intrahepatic cholangiocarcinoma patients. Erratum:[Clin Epigenetics. 2023 Mar 21;15(1):46. doi: 10.1186/s13148-023-01455-3. PMID: 36945022] Publication Status: Online-Only, [RefSeq, PubMed]; PABPC1 promotes cell proliferation and metastasis in pancreatic adenocarcinoma by regulating COL12A1 expression., [RefSeq, PubMed]; Temporal profiling of the breast tumour microenvironment reveals collagen XII as a driver of metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 1, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 24, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 25, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 25, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 136, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 130, "disease_count": 2, "glyco_site_count": 35, "binding_glycan_count": 0, "secondary_ac_list": "O43853;Q15955;Q5VYK1;Q5VYK2;Q71UR3;Q99716", "ec_number_list": [], "go_molecular_function": "GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007155 cell adhesion;GO:0030199 collagen fibril organization;GO:0035987 endodermal cell differentiation;GO:0009888 tissue development", "synthesized_glycan_count": 0, "hit_score": 30.8, "record_id": "Q99715-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JRA6-1", "uniprot_id": [ { "id": "TGO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JRA6", "type": "external" } ], "mass": 213702.0, "length": 1907, "protein_name": "Transport and Golgi organization protein 1 homolog", "gene_name": "MIA3", "organism": "Human", "refseq_name": "transport and Golgi organization protein 1 homolog isoform 2", "refseq_ac": [ { "id": "NP_001287796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287796", "type": "external" } ], "gene_names_uniprotkb": "MIA3; KIAA0268; PRO20088; TANGO", "gene_names_refseq": "D320; MIA3; ODCD2; TANGO1; TANGO; UNQ6077", "protein_names_uniprotkb": "Transport and Golgi organization protein 1 homolog; C219-reactive peptide; D320; Melanoma inhibitory activity protein 3; TANGO1", "protein_names_refseq": "C219-reactive peptide; MIA family member 3, ER export factor; melanoma inhibitory activity family, member 3; melanoma inhibitory activity protein 3; transport and Golgi organization protein 1 homolog isoform 2; transport and Golgi organization protein 1 homolog", "tax_id": 9606, "disease": "odontochondrodysplasia 2 with hearing loss and diabetes (MONDO:MONDO:0031010)", "pathway": " (hsa:375056); (R-HSA-381426); (R-HSA-5694530); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 192, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10026136;10077652;10218588;10512690;10559958;10614670;10652252;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12237308;12241545;12379487;12466191;12810533;12904166;12975309;1370451;1383255;15126567;15183315;15308688;15469690;15485880;15525596;15642270;16129679;17010120;17044017;17047378;17081983;17249697;17312271;17499046;17607000;17726152;17786351;17985932;18025080;18283111;18287528;18318008;18452278;18669648;18843296;19159218;19265014;19269366;19566487;19664994;20068231;20166139;20427317;20477988;20533886;20805473;21406692;21525241;21872626;21878990;22013193;22544926;22661428;23090970;23186163;23481700;23584533;23852824;24190977;24275569;24714562;24715725;2476804;2479552;25202031;25576301;25619253;25645385;25813380;25880248;26091039;26154972;26375851;26728094;26992070;27138255;27551091;27846572;27862975;28228285;28442536;28904123;29237092;29351928;29493099;29557506;29741879;30059200;30429286;30459171;30484775;31020640;31611695;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34105348;34171305;34357683;34405274;34509645;34932366;35051231;35138101;35154160;35251023;35254053;35318648;35580925;35705054;36010968;36215666;36241641;36284347;36603143;37067501;37074911;37211171;37948019;38665916;39531497;39534244;40307207;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;7758977;8781553;8817670;8894645;8964575;9395526;9472029;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers-Danlos hypermobile syndrome., [RefSeq, PubMed]; Caspase 1 Enhances Transport and Golgi Organization Protein 1 Expression to Promote Procollagen Export From the Endoplasmic Reticulum in Systemic Sclerosis Contributing to Fibrosis., [RefSeq, PubMed]; MIA3 promotes the degradation of GSH (glutathione) by binding to CHAC1, thereby promoting the progression of hepatocellular carcinoma., [RefSeq, PubMed]; Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum (PubMed:19269366, PubMed:27138255). Required for correct assembly of COPII coat components at endoplasmic reticulum exit sites (ERES) and for the localization of SEC16A and membrane-bound ER-resident complexes consisting of MIA2 and PREB/SEC12 to ERES (PubMed:28442536)., [UniProtKB, PubMed, PubMed, PubMed]; Reduced expression of TANGO is associated with colon and hepatocellular carcinomas, [RefSeq, PubMed]; TANGO transfected cell lines revealed that TANGO expression reduces motility, whereas reduction of TANGO enhances migration., [RefSeq, PubMed]; TANGO1 interacts with NRTN to promote hepatocellular carcinoma progression by regulating the PI3K/AKT/mTOR signaling pathway., [RefSeq, PubMed]; The results from this study present TANGO as a novel ligand for CD11c, regulating migratory processes of hematopoietic cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 42, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 42, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 42, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 85, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 26, "disease_count": 1, "glyco_site_count": 48, "binding_glycan_count": 0, "secondary_ac_list": "A8K2S0;A8MT05;A8MT13;B7Z430;Q14083;Q3S4X3;Q5JRA5;Q5JRB0;Q5JRB1;Q5JRB2;Q6UVY8;Q86Y60;Q8N8M5;Q92580", "ec_number_list": [], "go_molecular_function": "GO:0038024 cargo receptor activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0070971 endoplasmic reticulum exit site", "go_biological_process": "GO:0090110 COPII-coated vesicle cargo loading;GO:0007162 negative regulation of cell adhesion;GO:0015031 protein transport;GO:0042953 lipoprotein transport;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 26.7, "record_id": "Q5JRA6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00155-1", "uniprot_id": [ { "id": "GPR25_HUMAN", "url": "https://www.uniprot.org/uniprot/O00155", "type": "external" } ], "mass": 38779.0, "length": 361, "protein_name": "C-X-C chemokine receptor GPR25", "gene_name": "GPR25", "organism": "Human", "refseq_name": "C-X-C chemokine receptor GPR25", "refseq_ac": [ { "id": "NP_005289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005289", "type": "external" } ], "gene_names_uniprotkb": "GPR25", "gene_names_refseq": "GPR25", "protein_names_uniprotkb": "C-X-C chemokine receptor GPR25; G protein-coupled receptor 25", "protein_names_refseq": "C-X-C chemokine receptor GPR25; probable G-protein coupled receptor 25", "tax_id": 9606, "disease": "", "pathway": " (hsa:2848); (R-HSA-418555)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11007482;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17168849;17386346;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;2871555;29242379;29331515;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;32983136;33049737;34357683;39293486;40279398;6085243;8340388;8514797;8672451;9020062;9263355;9417641;9651336", "class_list": "", "function": "GPR-25 is homologous to receptors involved in blood pressure regulation., [RefSeq, PubMed]; Receptor for the C-X-C chemokine CXCL17, which plays a key role in lymphocyte homing (PubMed:39293486, PubMed:40279398). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as RhoA pathway (PubMed:39293486). Activation by CXCL17 on lymphocytes activates the RhoA pathway, which regulates cytoskeletal dynamics and integrins, mediating lymphocyte recruitment into the respiratory, upper gastrointestinal, biliary and genito-urinary tracts (PubMed:39293486)., [UniProtKB, PubMed, PubMed]; This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. This gene has been linked to arterial stiffness. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVJ5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0016494 C-X-C chemokine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0070098 chemokine-mediated signaling pathway;GO:0048247 lymphocyte chemotaxis;GO:0097021 lymphocyte migration into lymphoid organs;GO:0030595 leukocyte chemotaxis", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O00155-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3LI70-1", "uniprot_id": [ { "id": "KR196_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3LI70", "type": "external" } ], "mass": 6267.0, "length": 58, "protein_name": "Keratin-associated protein 19-6", "gene_name": "KRTAP19-6", "organism": "Human", "refseq_name": "keratin-associated protein 19-6 isoform KRTAP19-6-V2", "refseq_ac": [ { "id": "NP_001290049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290049", "type": "external" } ], "gene_names_uniprotkb": "KRTAP19-6; KAP19.6", "gene_names_refseq": "KAP19.6; KRTAP19-6", "protein_names_uniprotkb": "Keratin-associated protein 19-6", "protein_names_refseq": "keratin-associated protein 19-6 isoform KRTAP19-6-V2", "tax_id": 9606, "disease": "", "pathway": " (hsa:337973); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3LI71", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q3LI70-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWU4-1", "uniprot_id": [ { "id": "ZNT8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWU4", "type": "external" } ], "mass": 40755.0, "length": 369, "protein_name": "Proton-coupled zinc antiporter SLC30A8", "gene_name": "SLC30A8", "organism": "Human", "refseq_name": "proton-coupled zinc antiporter SLC30A8 isoform b", "refseq_ac": [ { "id": "NP_001166282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166282", "type": "external" } ], "gene_names_uniprotkb": "SLC30A8; ZNT8", "gene_names_refseq": "SLC30A8; ZNT8; ZnT-8", "protein_names_uniprotkb": "Proton-coupled zinc antiporter SLC30A8; Solute carrier family 30 member 8; Zinc transporter 8; ZnT-8", "protein_names_refseq": "proton-coupled zinc antiporter SLC30A8 isoform b; proton-coupled zinc antiporter SLC30A8; solute carrier family 30 (zinc transporter), member 8; zinc transporter ZnT-8", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:169026); (R-HSA-264876); (R-HSA-435368)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10521251;11237011;11462236;11493706;11707400;11904301;14617756;14704853;15154973;15276077;1528899;15331542;15878854;16158220;16158222;16407158;16714477;16984975;17118530;17293876;17971500;20308425;20634998;21091435;21145486;21308844;21713314;22526607;22586580;23246542;23390544;23696819;24496951;24830306;25091901;26370701;26541133;2669954;26824044;26923214;27580332;27832962;27875315;2822027;28887632;29429978;30078552;30418433;30893306;31184304;31457096;31471319;32723473;32928873;33141586;33485965;35051231;37103601;37324267;37474341;37707576;38446892;38661000;3896518;38985991;7626024;8617223;8916141;8962159;9166668;9207799;9631292", "class_list": "", "function": "Association of HHEX and SLC30A8 Gene Polymorphisms with Gestational Diabetes Mellitus Susceptibility: A Meta-analysis. Review article, [RefSeq, PubMed]; Association of solute carrier family 30 A8 zinc transporter gene variations with gestational diabetes mellitus risk in a Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; Electrophysiological Characterization of Inducible Pluripotent Stem Cell-Derived Human beta-Like Cells and an SLC30A8 Disease Model., [RefSeq, PubMed]; Identified the full-length sequences of SLC30A8, extending the SLC30 family to ten members; used an expressed sequence tag (EST) data mining strategy to determine the pattern of ZnT genes expression in tissues Publication Status: Online-Only, [RefSeq, PubMed]; Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic beta-cell survival and function., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) GeneRIF: A non-synonymous polymorphism in SLC30A8 (rs13266634, R325W) is associated with increased risk of developing type 2 diabetes in causcasians., [RefSeq, PubMed]; Proton-coupled zinc ion antiporter mediating the entry of zinc into the lumen of pancreatic beta cell secretory granules, thereby regulating insulin secretion., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]., [RefSeq]; Zinc intake, SLC30A8 rs3802177 polymorphism, and colorectal cancer risk in a Korean population: a case-control study., [RefSeq, PubMed]; ZnT-8 is a pancreatic beta-cell-specific zinc transporter [review] Review article, [RefSeq, PubMed]; ZnT-8 may be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta-cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVP9;A5YM39;B4DPE0;Q8TCL3", "ec_number_list": [], "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0140826 zinc:proton antiporter activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0030141 secretory granule;GO:0030658 transport vesicle membrane;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0006829 zinc ion transport;GO:0010043 response to zinc ion;GO:0032024 positive regulation of insulin secretion;GO:0060627 regulation of vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q8IWU4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EX3-1", "uniprot_id": [ { "id": "DC2I2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EX3", "type": "external" } ], "mass": 57801.0, "length": 536, "protein_name": "Cytoplasmic dynein 2 intermediate chain 2", "gene_name": "DYNC2I2", "organism": "Human", "refseq_name": "cytoplasmic dynein 2 intermediate chain 2", "refseq_ac": [ { "id": "NP_443076", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443076", "type": "external" } ], "gene_names_uniprotkb": "DYNC2I2; WDR34", "gene_names_refseq": "CFAP133; DIC5; DYNC2I2; FAP133; SRTD11; WDR34; bA216B9.3", "protein_names_uniprotkb": "Cytoplasmic dynein 2 intermediate chain 2; Dynein 2 intermediate chain 2; WD repeat-containing protein 34", "protein_names_refseq": "WD repeat domain 34; WD repeat-containing protein 34; cytoplasmic dynein 2 intermediate chain 2", "tax_id": 9606, "disease": "neural tube defect (Disease Ontology:DOID:0080074); short-rib thoracic dysplasia 11 with or without polydactyly (Disease Ontology:DOID:0110095)", "pathway": " (hsa:89891); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 142, "publication_id_list": "10069812;11237011;11285270;12795688;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17312020;17314406;17574030;18180368;18304522;18364699;18369462;18852297;19112494;19147001;19253336;19384852;19450523;19521662;19720863;19805633;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22869377;22922713;22992454;23481700;23945166;23990561;24140113;24183449;24183451;24296415;24366607;24596149;24616010;24715725;25205765;25349261;25418920;25443296;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29241935;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29742051;29769354;29930882;30315122;30320547;30410026;30429286;30484775;30524438;30649997;30779550;30833945;31154438;31217245;31222486;31451806;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32488085;32502341;32576942;32897882;32983136;33123756;33124039;33141586;33298915;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36581221;37938771;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation., [UniProtKB, PubMed, PubMed]; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system (PubMed:25205765, PubMed:29742051). DYNC2I2 plays a major role in retrograde ciliary protein trafficking and in ciliogenesis (PubMed:29742051, PubMed:30320547, PubMed:30649997). Required also to maintain a functional transition zone (PubMed:30320547)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Results suggest that WDR34 is a TAK1-associated inhibitor of the IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway., [RefSeq, PubMed]; This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]., [RefSeq]; WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways., [RefSeq, PubMed]; WDR34, a candidate gene for non-syndromic rod-cone dystrophy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VXV4;Q9BV46", "ec_number_list": [], "go_molecular_function": "GO:0045503 dynein light chain binding;GO:0045504 dynein heavy chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium;GO:0030175 filopodium", "go_biological_process": "GO:0060271 cilium assembly;GO:0042073 intraciliary transport;GO:0035721 intraciliary retrograde transport", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q96EX3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09486-1", "uniprot_id": [ { "id": "SPRC_HUMAN", "url": "https://www.uniprot.org/uniprot/P09486", "type": "external" } ], "mass": 34632.0, "length": 303, "protein_name": "SPARC", "gene_name": "SPARC", "organism": "Human", "refseq_name": "SPARC isoform 2 precursor", "refseq_ac": [ { "id": "NP_001296372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296372", "type": "external" } ], "gene_names_uniprotkb": "SPARC; ON", "gene_names_refseq": "BM-40; OI17; ONT; ON; SPARC", "protein_names_uniprotkb": "SPARC; BM-40; Basement-membrane protein 40; ON; Osteonectin; Secreted protein acidic and rich in cysteine", "protein_names_refseq": "SPARC isoform 2 precursor; basement-membrane protein 40; secreted protein, acidic, cysteine-rich (osteonectin)", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); osteogenesis imperfecta type 17 (Disease Ontology:DOID:0110338); progressive osseous heteroplasia (Disease Ontology:DOID:0111535); membranous glomerulonephritis (Disease Ontology:DOID:10976); urinary bladder cancer (Disease Ontology:DOID:11054); diabetic angiopathy (Disease Ontology:DOID:11713); calcinosis (Disease Ontology:DOID:182); ovary epithelial cancer (Disease Ontology:DOID:2152); endometrial carcinoma (Disease Ontology:DOID:2871); cervix carcinoma (Disease Ontology:DOID:2893); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); renal cell carcinoma (Disease Ontology:DOID:4450); stomach carcinoma (Disease Ontology:DOID:5517); myocardial infarction (Disease Ontology:DOID:5844); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:6678); (R-HSA-114608); (R-HSA-1251985); (R-HSA-3000178); (R-HSA-3000497)", "pathway_count": 5, "publication_count": 128, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10339611;10673326;11084047;11237011;11259413;11679632;12077138;12225811;12473645;12626425;12807903;1376317;1435334;14630798;14715956;15023535;15075323;15208308;15296743;15297306;15345716;15345724;1544908;15534001;15572036;16061658;16164023;16293224;16493581;16670288;16912174;17018285;17145755;17588949;17962816;18434317;18499864;18653779;19047365;19359419;19596786;19726632;2059554;21030611;21480214;21642437;21789315;22134916;2306517;23090970;23230144;23345538;2338025;23640497;2364322;2412224;24190977;2420006;24308844;2430969;24829397;25502872;26027498;26768311;27893789;2790009;28228285;2838412;29242379;29557506;29741879;30315122;30459171;31217245;31844290;32157095;32350084;32488085;32938616;32983136;33592498;33968037;3400777;34078123;3410046;34357683;34433824;35251023;35580925;3597437;36284347;37074911;37938771;38077346;38199134;38245817;38347494;38665916;38728000;39894887;6193777;6439184;6457647;7495300;7499434;7527058;7542669;7559467;7685013;7693733;7852349;8002934;8440685;8467233;8548457;8798654;8943283;9233787;9252349;9294172;9341124;9346959;9457905;9501084;9685393;9949188", "class_list": "", "function": "Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity., [UniProtKB]; Citric acid promotes SPARC release in pancreatic cancer cells and inhibits the progression of pancreatic tumors in mice on a high-fat diet., [RefSeq, PubMed]; Downregulation of SPARC Expression Enhances the Fusion of BeWo Choriocarcinoma Cells., [RefSeq, PubMed]; Immunohistochemical expression of SPARC in odontogenic keratocysts: a comparative study with other odontogenic cysts. Publication Status: Online-Only, [RefSeq, PubMed]; Osteonectin (SPARC) prognostic value in prostate cancer., [RefSeq, PubMed]; Serum CRP interacts with SPARC and regulate immune response in severe cases of COVID-19 infection. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 72, "disease_count": 15, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DQH9;Q6IBK4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005518 collagen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0048752 semicircular canal morphogenesis;GO:0010595 positive regulation of endothelial cell migration;GO:0001937 negative regulation of endothelial cell proliferation;GO:0016525 negative regulation of angiogenesis;GO:0022604 regulation of cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "P09486-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P44-1", "uniprot_id": [ { "id": "COLA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P44", "type": "external" } ], "mass": 99369.0, "length": 957, "protein_name": "Collagen alpha-1(XXI) chain", "gene_name": "COL21A1", "organism": "Human", "refseq_name": "collagen alpha-1(XXI) chain isoform a precursor", "refseq_ac": [ { "id": "NP_001305680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305680", "type": "external" } ], "gene_names_uniprotkb": "COL21A1; COL1AL; FP633", "gene_names_refseq": "COL21A1; COLA1L; FP633", "protein_names_uniprotkb": "Collagen alpha-1(XXI) chain", "protein_names_refseq": "alpha 1 chain-like collagen; collagen alpha-1(XXI) chain isoform a precursor; collagen alpha-1(XXI) chain; collagen, type XXI, alpha 1", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); psychotic disorder (Disease Ontology:DOID:2468); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:81578); (R-HSA-1650814); (R-HSA-8948216)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "10479448;10934207;11230166;11237011;11566190;11863369;12473679;12475640;12646579;1323838;14500733;15044469;15498874;1577494;16591531;171650;18487197;19075007;19693541;20470363;21878990;21967573;24804215;2543975;29557506;30459171;30924295;31611695;3173483;32898995;32945508;35580925;3905801;3938630;6307276;6809411;710450;9054364;9545296;9560306;9582318", "class_list": "", "function": "Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line., [RefSeq, PubMed]; Low copy number of Col21A1 is associated with nonsyndromic cleft lip and/or palate., [RefSeq, PubMed]; Prognostic significance of abnormal matrix collagen remodeling in colorectal cancer based on histologic and bioinformatics analysis., [RefSeq, PubMed]; This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; Validating candidate biomarkers for different stages of non-alcoholic fatty liver disease., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NIX5;B2R8J9;Q49A51;Q71RF4;Q8WXV8;Q9H0V3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol;GO:0031012 extracellular matrix;GO:1990320 collagen type XXI trimer", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q96P44-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92538-4", "uniprot_id": [ { "id": "GBF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92538", "type": "external" } ], "mass": 206574.0, "length": 1860, "protein_name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1", "gene_name": "GBF1", "organism": "Human", "refseq_name": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 2", "refseq_ac": [ { "id": "NP_001186307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186307", "type": "external" } ], "gene_names_uniprotkb": "GBF1; KIAA0248", "gene_names_refseq": "ARF1GEF; CMT2GG; CMTDI2; CMTDIA; GBF1", "protein_names_uniprotkb": "Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1; BFA-resistant GEF 1", "protein_names_refseq": "BFA-resistant GEF 1; Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 2; golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease dominant intermediate A (Disease Ontology:DOID:0110202)", "pathway": " (hsa:8729); (R-HSA-199992); (R-HSA-5620916); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-9918476); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 234, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11101518;11172815;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11747608;11748249;11994746;12047556;12070132;12221131;12388752;12634853;12808027;14504276;14519844;14654841;14742712;14762106;14993220;15029241;15037235;15084397;15158452;15272311;15616190;15632110;15728195;15728366;15813748;15878873;16030262;16038802;16136078;16155582;1631136;16431365;16537653;16571679;16633337;16723730;16782012;1680566;16912714;16926190;16940185;16984405;17005635;17007872;17030804;17081983;17113389;17253781;17274799;17360540;17429068;17451557;17574030;17628206;17640864;17646400;17666033;17760859;17927562;17956946;18003980;18063581;18086915;18088087;18182008;18283113;18287528;18524849;18669648;18685082;18691976;18692471;18809720;18973100;1898986;19015319;19017632;19039328;19109418;19151722;19153612;19164740;19296914;19297529;19369418;19454479;19461073;1957170;19631211;19690332;19758564;20005805;20068231;20083215;20136777;20308558;20357002;20427317;20462495;20534429;20637885;21219331;21273506;21406692;21550243;21550981;21565611;21654843;21689688;21775626;21789191;21844168;21911577;22013193;22094269;22185782;22304919;22389062;22420621;22433857;22573891;22983554;23186163;23351793;23386609;23396477;23418352;23481700;23567335;23839779;23945166;24119662;24213530;24275569;24296415;24494924;24806965;25190516;25364732;25418920;25436559;25492864;25645385;26092250;26375851;26728094;27108190;27600516;27893789;27920218;28218747;28228285;28514659;28649982;28832583;28834231;29242379;29331515;29351928;29393594;29508533;29632711;29786170;29898406;29902443;30192525;30315122;30524438;30599162;31519766;32119511;32937143;33177556;34725712;35132862;35215846;35254053;35452674;36305789;37340703;38665916;38904364;39531497;39894887;40307207;40914422;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8810314;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9614177;9671725;9727496;9751720;9819391;9828135;9990005", "class_list": "", "function": "Detailed subcellular localization to the cis-Golgi, [RefSeq, PubMed]; Enterovirus 3A protein disrupts endoplasmic reticulum homeostasis through interaction with GBF1., [RefSeq, PubMed]; Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated ARFs through replacement of GDP with GTP. Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), and the endoplasmic reticulum-Golgi intermediate (ERGIC) and cis-Golgi compartments which implicates ARF1 activation. Involved in COPI vesicle-dependent retrograde transport from the ERGIC and cis-Golgi compartments to the endoplasmic reticulum (ER) (PubMed:12047556, PubMed:12808027, PubMed:16926190, PubMed:17956946, PubMed:18003980, PubMed:19039328, PubMed:24213530). Involved in the trans-Golgi network recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1 adaptor protein complex related to chlathrin-dependent transport; the function requires its GEF activity (probably at least in part on ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1 (PubMed:15616190). Has in vitro GEF activity towards ARF5 (By similarity). Involved in the processing of PSAP (PubMed:17666033). Required for the assembly of the Golgi apparatus (PubMed:12808027, PubMed:18003980). The AMPK-phosphorylated form is involved in Golgi disassembly during mitotis and under stress conditions (PubMed:18063581, PubMed:23418352). May be involved in the COPI vesicle-dependent recruitment of PNPLA2 to lipid droplets; however, this function is under debate (PubMed:19461073, PubMed:22185782). In neutrophils, involved in G protein-coupled receptor (GPCR)-mediated chemotaxis und superoxide production. Proposed to be recruited by phosphatidylinositol-phosphates generated upon GPCR stimulation to the leading edge where it recruits and activates ARF1, and is involved in recruitment of GIT2 and the NADPH oxidase complex (PubMed:22573891). Plays a role in maintaining mitochondrial morphology (PubMed:25190516)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel interaction between p115 and Golgi-specific brefeldin-A-resistant factor 1 (GBF1), [RefSeq, PubMed]; This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; Viral protein engagement of GBF1 induces host cell vulnerability through synthetic lethality., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0A7P0RGV0;Q149P0;Q149P1;Q5VXX3;Q96CK6;Q96HZ3;Q9H473", "ec_number_list": [], "go_molecular_function": "GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005777 peroxisome;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0005811 lipid droplet", "go_biological_process": "GO:0002263 cell activation involved in immune response;GO:0048205 COPI coating of Golgi vesicle;GO:0061162 establishment of monopolar cell polarity;GO:1903409 reactive oxygen species biosynthetic process;GO:1903420 protein localization to endoplasmic reticulum tubular network", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "Q92538-4", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T749-1", "uniprot_id": [ { "id": "KPRP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T749", "type": "external" } ], "mass": 64136.0, "length": 579, "protein_name": "Keratinocyte proline-rich protein", "gene_name": "KPRP", "organism": "Human", "refseq_name": "keratinocyte proline-rich protein", "refseq_ac": [ { "id": "NP_001020402", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020402", "type": "external" } ], "gene_names_uniprotkb": "KPRP; C1orf45", "gene_names_refseq": "C1orf45; KPRP", "protein_names_uniprotkb": "Keratinocyte proline-rich protein; hKPRP", "protein_names_refseq": "keratinocyte expressed, proline-rich protein; keratinocyte proline-rich protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:448834); (R-HSA-9725554)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "12067728;12624109;15140226;15234001;15556625;15675955;15780751;16297201;17330888;19924134;20068231;20166139;22735594;23283814;23629652;24794495;26340985;30451992;30905808;31399284;33214551;34019948;34171305;35051231;38665916", "class_list": "", "function": "A human gene encoding keratinocyte proline-rich protein (hKPRP), an epidermal marker expressed in stratified squamous epithelia, has a potential role in keratinocytes differentiation., [RefSeq, PubMed]; By allelic copy number analysis at missense single-nucleotide polymorphisms on 26 genes with copy number variation, study identified a significant association between atopic dermatitis and human KPRP. Human KPRP expression, which was localized to the upper granular layer of epidermis, was significantly decreased in atopic dermatitis compared with normal skin., [RefSeq, PubMed]; This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q5T749-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15049-1", "uniprot_id": [ { "id": "N4BP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O15049", "type": "external" } ], "mass": 60470.0, "length": 544, "protein_name": "NEDD4-binding protein 3", "gene_name": "N4BP3", "organism": "Human", "refseq_name": "NEDD4-binding protein 3", "refseq_ac": [ { "id": "NP_055926", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055926", "type": "external" } ], "gene_names_uniprotkb": "N4BP3; KIAA0341", "gene_names_refseq": "LZTS4; N4BP3", "protein_names_uniprotkb": "NEDD4-binding protein 3; N4BP3", "protein_names_refseq": "NEDD4-binding protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23138)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11717310;15324660;18669648;22645359;23186163;24715725;25576301;27846572;28228285;28832583;29242379;29343084;29557506;29632046;31530632;31844290;32350084;32938616;33141586;33298915;33633747;33912179;33936100;34433824;34561969;34880843;34932366;35051231;35251023;35848906;36162713", "class_list": "", "function": "N4BP3 promotes angiogenesis in hepatocellular carcinoma by binding with KAT2B., [RefSeq, PubMed]; N4BP3 promotes breast cancer metastasis via NEDD4-mediated E-cadherin ubiquitination and degradation., [RefSeq, PubMed]; N4BP3 was associated with the survival time of cervical squamous cell carcinoma patients. mir-451 and mir-486 were related to tumor differentiation stage., [RefSeq, PubMed]; Plays a positive role in the antiviral innate immune signaling pathway. Mechanistically, interacts with MAVS and functions as a positive regulator to promote 'Lys-63'-linked polyubiquitination of MAVS and thus strengthens the interaction between MAVS and TRAF2 (PubMed:34880843). Also plays a role in axon and dendrite arborization during cranial nerve development. May also be important for neural crest migration and early development of other anterior structures including eye, brain and cranial cartilage (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DIL3;D3DWP3;Q6ZSQ6;Q7Z6I3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0030424 axon;GO:0030425 dendrite;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0007399 nervous system development;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "O15049-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXM6-1", "uniprot_id": [ { "id": "NRM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXM6", "type": "external" } ], "mass": 29379.0, "length": 262, "protein_name": "Nurim", "gene_name": "NRM", "organism": "Human", "refseq_name": "nurim isoform 2", "refseq_ac": [ { "id": "NP_001257636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257636", "type": "external" } ], "gene_names_uniprotkb": "NRM; NRM29; PRO1112", "gene_names_refseq": "NRM29; NRM", "protein_names_uniprotkb": "Nurim; Nuclear envelope membrane protein; Nuclear rim protein", "protein_names_refseq": "nuclear rim protein; nurim (nuclear envelope membrane protein); nurim isoform 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741)", "pathway": " (hsa:11270)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10402458;11237011;12975309;15542857;16702430;23092226;24715725;25418920;25645385;25892735;26154972;26811146;26992070;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29632046;29769354;29786170;30315122;31844290;32157095;32161166;32265295;32387766;32502341;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;34171305;34932366;35051231;35251023;35561310;35580925;36010968", "class_list": "", "function": "Nurim is a polytopic protein tightly associated with the inner nuclear membrane, [RefSeq, PubMed]; The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]; These findings implicate that the inner nuclear membrane protein Nurim plays an important role in the suppression of apoptosis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0S7R0;B0S7R1;I3XIE2;I3XIE3;Q5JP57;Q5JP58;Q5JP59;Q5JP60;Q8WU45;Q9BSX3;Q9UN92", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005637 nuclear inner membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q8IXM6-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15526-1", "uniprot_id": [ { "id": "SURF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15526", "type": "external" } ], "mass": 33331.0, "length": 300, "protein_name": "Surfeit locus protein 1", "gene_name": "SURF1", "organism": "Human", "refseq_name": "surfeit locus protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001267716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267716", "type": "external" } ], "gene_names_uniprotkb": "SURF1; SURF-1", "gene_names_refseq": "CMT4K; MC4DN1; SHY1; SURF1", "protein_names_uniprotkb": "Surfeit locus protein 1", "protein_names_refseq": "surfeit 1; surfeit locus protein 1 isoform 2; surfeit locus protein 1", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 1 (Disease Ontology:DOID:0070491); Charcot-Marie-Tooth disease type 4K (Disease Ontology:DOID:0110187); Leigh disease (Disease Ontology:DOID:3652); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762)", "pathway": " (hsa:6834); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10558868;10647889;10746561;11237011;11317352;14564068;16120373;16959974;19503089;21937992;22342701;22410471;22488715;23125284;23260140;23345593;23481700;23746447;24027061;24403053;25576301;25926683;25959673;26154972;26321642;26443249;27693358;28082314;28199844;28228285;28330871;29154948;29242379;29508533;29557506;29632711;29715184;29933018;30315122;31536960;31844290;31998317;32157095;32317297;32375044;32380162;33141586;33298915;33771987;33912179;33936100;34357683;34969438;35750769;38253038;40596516;7702754;9843204", "class_list": "", "function": "Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity., [RefSeq, PubMed]; SURF1 mutations may be associated with worse clinical outcome in Chinese patients with Leigh syndrome than other populations., [RefSeq, PubMed]; This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T8T3;Q5T8T4", "ec_number_list": [], "go_molecular_function": "GO:0004129 cytochrome-c oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0098803 respiratory chain complex", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly;GO:0009060 aerobic respiration;GO:0008535 respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q15526-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WY98-1", "uniprot_id": [ { "id": "TM234_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WY98", "type": "external" } ], "mass": 17601.0, "length": 164, "protein_name": "Transmembrane protein 234", "gene_name": "TMEM234", "organism": "Human", "refseq_name": "transmembrane protein 234 isoform a precursor", "refseq_ac": [ { "id": "NP_061991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061991", "type": "external" } ], "gene_names_uniprotkb": "TMEM234; C1orf91; PP1065; PRO1105", "gene_names_refseq": "AASL548; C1orf91; PRO1105; RP4-622L5; TMEM234; dJ622L5.7", "protein_names_uniprotkb": "Transmembrane protein 234", "protein_names_refseq": "transmembrane protein 234 isoform a precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56063)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;12975309;15498874;25576301;25645385;26154972;26992070;27397612;27600516;27846572;27862975;28228285;28832583;28834231;29557506;29786170;30315122;30429286;31844290;31848261;32157095;32938616;33141586;34171305;35051231;35580925;36010968;36215666;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R535;D3DPP7;Q6UWY9;Q8N2H6;Q9BSR2;Q9NU76", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8WY98-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C040-1", "uniprot_id": [ { "id": "TRIM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C040", "type": "external" } ], "mass": 81530.0, "length": 744, "protein_name": "Tripartite motif-containing protein 2", "gene_name": "TRIM2", "organism": "Human", "refseq_name": "tripartite motif-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001123539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123539", "type": "external" } ], "gene_names_uniprotkb": "TRIM2; KIAA0517; RNF86", "gene_names_refseq": "CMT2R; RNF86; TRIM2", "protein_names_uniprotkb": "Tripartite motif-containing protein 2; 2.3.2.27; E3 ubiquitin-protein ligase TRIM2; RING finger protein 86; RING-type E3 ubiquitin transferase TRIM2", "protein_names_refseq": "Charcot-Marie-Tooth disease, type 2R; E3 ubiquitin-protein ligase TRIM2; RING finger protein 86; RING-type E3 ubiquitin transferase TRIM2; tripartite motif protein TRIM2; tripartite motif-containing protein 2 isoform 2", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 2R (Disease Ontology:DOID:0110161); autosomal recessive limb-girdle muscular dystrophy (Disease Ontology:DOID:0110274); autosomal recessive limb-girdle muscular dystrophy type 2H (Disease Ontology:DOID:0110282); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:23321); (R-HSA-877300)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10067896;10986460;11237011;11331580;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;18362138;18591661;20049711;20130243;20304997;20363976;21478148;23061660;23562820;24068738;24417533;25576301;25645385;27600516;27862975;27869121;29242379;29557506;29786170;30315122;30429286;30484775;31844290;32157095;32387766;32488085;32938616;32983136;33141586;33239784;33298915;33592498;33936100;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35580925;36010968;36051486;36215666;36241641;36284347;36481767;36920626;37938771;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "Divergent self-association properties of paralogous proteins TRIM2 and TRIM3 regulate their E3 ligase activity. Publication Status: Online-Only, [RefSeq, PubMed]; Expression and Role of TRIM2 in Human Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Hsa_circ_0001361 facilitates cell progression and glycolytic metabolism in neuroblastoma via interacting with mir-490-5p to induce TRIM2 upregulation., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]., [RefSeq]; UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11. Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance. Plays a role in antiviral immunity and limits New World arenavirus infection independently of its ubiquitin ligase activity (PubMed:24068738)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DP09;O60272;Q9BSI9;Q9UFZ1", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0016740 transferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination;GO:0043523 regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9C040-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A05-1", "uniprot_id": [ { "id": "VATE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A05", "type": "external" } ], "mass": 26074.0, "length": 226, "protein_name": "V-type proton ATPase subunit E 2", "gene_name": "ATP6V1E2", "organism": "Human", "refseq_name": "V-type proton ATPase subunit E 2", "refseq_ac": [ { "id": "NP_001304992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304992", "type": "external" } ], "gene_names_uniprotkb": "ATP6V1E2; ATP6E1; ATP6EL2; ATP6V1EL2", "gene_names_refseq": "ATP6E1; ATP6EL2; ATP6V1E2; ATP6V1EL2; VMA4", "protein_names_uniprotkb": "V-type proton ATPase subunit E 2; V-ATPase subunit E 2; Vacuolar proton pump subunit E 2", "protein_names_refseq": "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2; V-ATPase subunit E 2; V-type proton ATPase subunit E 2; testis secretory sperm-binding protein Li 235P; vacuolar proton pump subunit E 2; vacuolar-type proton-translocating ATPase subunit E1", "tax_id": 9606, "disease": "", "pathway": " (hsa:90423); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712)", "pathway_count": 6, "publication_count": 104, "publication_id_list": "10029572;10409623;10748165;10802645;11237855;11779865;11800564;11970843;12036578;12531241;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17470430;17662945;17729390;18406720;18497260;18604198;18794901;19089323;19321446;20134026;20381137;21124855;22053050;22087256;22575674;22980980;23723238;24081491;24095279;24714562;25259925;25263562;25418920;25457612;25561175;25567906;25819761;26205815;26449471;26586190;26929215;26972053;27308486;27452731;27487210;27600516;27648300;27920218;28063628;28066558;28199306;28199315;2825632;2848506;28514659;28832583;28834231;28855257;29053970;29056322;29123071;29236692;29242379;29314611;29393594;29596046;29632046;29786170;29789417;2986535;30061680;30181260;30337524;3061785;30651352;32157095;32387766;32983136;33968037;35051231;35251023;35561310;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "Rat vacuolar H(+)ATPase associates with NHE-RF (Na(+)/H(+) exchanger regulatory factor); the E subunit was co-immunoprecipitated from rat kidney cytosol with NHE-RF antibodies., [RefSeq, PubMed]; Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0033178 proton-transporting two-sector ATPase complex, catalytic domain;GO:0005829 cytosol;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0016241 regulation of macroautophagy", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q96A05-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3D8-1", "uniprot_id": [ { "id": "KAD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3D8", "type": "external" } ], "mass": 20061.0, "length": 172, "protein_name": "Adenylate kinase isoenzyme 6", "gene_name": "AK6", "organism": "Human", "refseq_name": "adenylate kinase isoenzyme 6 isoform c", "refseq_ac": [ { "id": "NP_001015891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015891", "type": "external" } ], "gene_names_uniprotkb": "AK6; AD-004; CGI-137; CINAP", "gene_names_refseq": "AD-004; AK6; CGI-137; CINAP; CIP; hCINAP", "protein_names_uniprotkb": "Adenylate kinase isoenzyme 6; 2.7.4.3; AK/ATPase; AK6; Adrenal gland protein AD-004; Coilin-interacting nuclear ATPase protein; Dual activity adenylate kinase/ATPase; hCINAP", "protein_names_refseq": "ATP-AMP transphosphorylase 6; adenylate kinase isoenzyme 6 isoform c; adrenal gland protein AD-004; coilin interacting nuclear ATPase protein; coilin interacting protein; sperm protein HTL-T-97p", "tax_id": 9606, "disease": "", "pathway": " (hsa:102157402); (R-HSA-499943)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;10931946;11237011;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15213396;15630091;16079131;16179339;16373698;16756507;16820675;17320107;177353;17824959;18469;1851158;18635542;18997010;19176520;19220460;19766732;21080915;211388;211390;22038794;22847445;23416111;2542324;25802875;25810538;26154972;2656695;2668278;27477389;27920218;28218747;28514659;28832583;28904123;29242379;29437277;30315122;30429286;31530632;31844290;32157095;32251557;32488085;32502341;32830518;32897882;32938616;33298915;33691108;33717175;33744230;33968037;34019948;34087483;34245011;35051231;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9488696;9677297", "class_list": "", "function": "Broad-specificity nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Also has ATPase activity (PubMed:15630091). Involved in the late cytoplasmic maturation steps of the 40S ribosomal particles, specifically 18S rRNA maturation (PubMed:27477389). While NMP activity is not required for ribosome maturation, ATPase activity is. Associates transiently with small ribosomal subunit protein uS11. ATP hydrolysis breaks the interaction with uS11. May temporarily remove uS11 from the ribosome to enable a conformational change of the ribosomal RNA that is needed for the final maturation step of the small ribosomal subunit (By similarity). Its NMP activity may have a role in nuclear energy homeostasis. AMP and dAMP are the preferred substrates, but CMP and dCMP are also good substrates. IMP is phosphorylated to a much lesser extent. All nucleoside triphosphates ATP, GTP, UTP, CTP, dATP, dCTP, dGTP, and TTP are accepted as phosphate donors. CTP is the best phosphate donor, followed by UTP, ATP, GTP and dCTP. May be involved in regulation of Cajal body (CB) formation (PubMed:15630091)., [UniProtKB, PubMed, HAMAP, PubMed]; HCINAP is potentially a direct target gene of HIF-1 and is required for hypoxia-induced EMT and apoptosis in cervical cancer cells., [RefSeq, PubMed]; Human adenylate kinase 6 regulates WNK1 (with no lysine kinase-1) phosphorylation states and affects ion homeostasis in NT2 cells., [RefSeq, PubMed]; Purification and X ray crystal structure, [RefSeq, PubMed]; The mRNA and protein expressions of AK1, AK6 and AK7 are significantly down-regulated in the sperm of asthenospermia patients, which may be closely related with reduced sperm motility., [RefSeq, PubMed]; This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; Unique structural features of the adenylate kinase hCINAP/AK6 and its multifaceted functions in carcinogenesis and tumor progression. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MSZ6;Q5F2S9", "ec_number_list": [ { "id": "2.7.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.10", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" }, { "id": "2.7.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.4", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "2.7.4.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.14", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:0004017 AMP kinase activity;GO:0050145 nucleoside monophosphate kinase activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0015949 nucleobase-containing small molecule interconversion;GO:0006364 rRNA processing;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9Y3D8-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q494W8-1", "uniprot_id": [ { "id": "CRFM7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q494W8", "type": "external" } ], "mass": 46218.0, "length": 412, "protein_name": "CHRNA7-FAM7A fusion protein", "gene_name": "CHRFAM7A", "organism": "Human", "refseq_name": "CHRNA7-FAM7A fusion protein isoform 1", "refseq_ac": [ { "id": "NP_647536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_647536", "type": "external" } ], "gene_names_uniprotkb": "CHRFAM7A", "gene_names_refseq": "CHRFAM7A; CHRNA7-DR1; CHRNA7; D-10", "protein_names_uniprotkb": "CHRNA7-FAM7A fusion protein; CHRNA7-DR1; D-10", "protein_names_refseq": "CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion; CHRNA7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion; CHRNA7-FAM7A fusion protein isoform 1; CHRNA7-FAM7A fusion protein; alpha 7 neuronal nicotinic acetylcholine receptor-FAM7A hybrid; alpha-7 nicotinic cholinergic receptor subunit", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); cognitive disorder (Disease Ontology:DOID:1561); schizophrenia (Disease Ontology:DOID:5419); rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:89832)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;11829490;14729617;15885267;37217939;37749098;38382524;38472514;38569318;39073048;9782083", "class_list": "", "function": "3-Mb map of 15q13-q14 showing that CHRFAM7A is part of a large segmental duplication in the opposite orientation to CHRNA7 and revealing several other duplications, [RefSeq, PubMed]; An original potentiating mechanism revealed by the cryo-EM structures of the human alpha7 nicotinic receptor in complex with nanobodies. Publication Status: Online-Only, [RefSeq, PubMed]; CHRFAM7A diversifies human immune adaption through Ca[2+] signalling and actin cytoskeleton reorganization., [RefSeq, PubMed]; Human mesothelioma cells and human biopsies of mesothelioma as well as of normal pleural mesothelial cells functionally express CHRNA7. Erratum:[Cancer Res. 2004 Feb 15;64(4):1559], [RefSeq, PubMed]; Results demonstrate that human and rat nicotinic acetylcholine receptors are senstive targets for volatile organic compounds in industrial products and are used in the risk assessment of these compounds., [RefSeq, PubMed]; Structural mechanisms of alpha7 nicotinic receptor allosteric modulation and activation., [RefSeq, PubMed]; The human-specific nicotinic receptor subunit CHRFAM7A reduces alpha7 receptor function in human induced pluripotent stem cells-derived and transgenic mouse neurons., [RefSeq, PubMed]; The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008]., [RefSeq]; Unraveling the molecular interactions between alpha7 nicotinic receptor and a RIC3 variant associated with backward speech. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8KAB9", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0005230 extracellular ligand-gated monoatomic ion channel activity;GO:0008200 ion channel inhibitor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0045202 synapse;GO:0045211 postsynaptic membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0050890 cognition;GO:0007268 chemical synaptic transmission;GO:0034220 monoatomic ion transmembrane transport;GO:0034766 negative regulation of monoatomic ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q494W8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RU14-1", "uniprot_id": [ { "id": "TM218_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RU14", "type": "external" } ], "mass": 12459.0, "length": 115, "protein_name": "Transmembrane protein 218", "gene_name": "TMEM218", "organism": "Human", "refseq_name": "transmembrane protein 218 isoform 2", "refseq_ac": [ { "id": "NP_001074015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074015", "type": "external" } ], "gene_names_uniprotkb": "TMEM218", "gene_names_refseq": "JBTS39; TMEM218", "protein_names_uniprotkb": "Transmembrane protein 218", "protein_names_refseq": "transmembrane protein 218 isoform 2", "tax_id": 9606, "disease": "Senior-Loken syndrome (Disease Ontology:DOID:0050576); Joubert syndrome (Disease Ontology:DOID:0050777); Joubert syndrome 39 (MONDO:MONDO:0030454)", "pathway": " (hsa:219854)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;26992070;28904123;31844290;32357974;32488085;33791682;35137054;35580925", "class_list": "", "function": "May be involved in ciliary biogenesis or function., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZM48", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A2RU14-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEY5-1", "uniprot_id": [ { "id": "CR3L4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEY5", "type": "external" } ], "mass": 43432.0, "length": 395, "protein_name": "Cyclic AMP-responsive element-binding protein 3-like protein 4", "gene_name": "CREB3L4", "organism": "Human", "refseq_name": "cyclic AMP-responsive element-binding protein 3-like protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001242907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242907", "type": "external" } ], "gene_names_uniprotkb": "CREB3L4; AIBZIP; CREB4; JAL", "gene_names_refseq": "AIBZIP; ATCE1; CREB3L4; CREB3; CREB4; JAL; hJAL", "protein_names_uniprotkb": "Cyclic AMP-responsive element-binding protein 3-like protein 4; AIbZIP; ATCE1; Androgen-induced basic leucine zipper protein; Attaching to CRE-like 1; CREB-4; Cyclic AMP-responsive element-binding protein 4; Tisp40; Transcript induced in spermiogenesis protein 40; cAMP-responsive element-binding protein 3-like protein 4; cAMP-responsive element-binding protein 4; hJAL", "protein_names_refseq": "Androgen-Induced bZIP; CREB-4; androgen-induced basic leucine zipper protein; attaching to CRE-like 1; cAMP responsive element binding protein 1; cAMP-responsive element-binding protein 3-like protein 4; cAMP-responsive element-binding protein 4; cyclic AMP-responsive element-binding protein 3-like protein 4 isoform 1; cyclic AMP-responsive element-binding protein 3-like protein 4; cyclic AMP-responsive element-binding protein 4; tisp40; transcript induced in spermiogenesis protein 40", "tax_id": 9606, "disease": "prostate adenocarcinoma (Disease Ontology:DOID:2526); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:148327); (R-HSA-8874211)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;11353085;11830526;12111373;12138176;15938716;16236796;16469704;16940180;17117415;17270658;17712038;17875199;18391022;19883396;20546900;21767813;22705851;23256041;23481700;23584533;24126059;25625847;25813380;25955804;26810754;28514659;28832583;28904123;29242379;29393594;29557506;30315122;30483806;30524438;31844290;32026099;32157095;32387766;32502341;32983136;33106913;33592498;34171305;34509645;34561969;35251023;35513511;36241641;38236913;9271389", "class_list": "", "function": "AIbZIP, a novel bZIP gene located on chromosome 1q21.3 that is highly expressed in prostate tumors and of which the expression is up-regulated by androgens in LNCaP human prostate cancer cells., [RefSeq, PubMed]; AIbZIP/CREB3L4 Promotes Cell Proliferation via the SKP2-p27 Axis in Luminal Androgen Receptor Subtype Triple-Negative Breast Cancer., [RefSeq, PubMed]; Identified a novel human CREB gene (CREB4) that was 1592 bp long and encoded a protein of 395 amino acid residues, [RefSeq, PubMed]; In LNCaP cell lines that conditionally express the processed form of AIbZIP, downstream targets of AIbZIP include genes for protein processing, transcriptional regulation, small molecule transport, signal transduction, metabolism & cell homeostasis., [RefSeq, PubMed]; MSC-AS1 knockdown inhibits cell growth and temozolomide resistance by regulating miR-373-3p/CPEB4 axis in glioma through PI3K/Akt pathway., [RefSeq, PubMed]; S1P cleavage of CREB4 may be suppressed by a determinant in the C-terminal region, [RefSeq, PubMed]; Study demonstrated that MCU1 is frequently overexpressed in breast cancer and abnormally high expression of MUC1 indicates poor prognosis. Subsequent data mining across multiple large databases demonstrated a positive association between MUC1 mRNA expression CREB3L4 in breast cancer tissues. Results indicated that MUC1 transcript expression may regulate tumor invasion and metastasis associated with CREB3L4 transcription., [RefSeq, PubMed]; The Novel Transcription Factor CREB3L4 Contributes to the Progression of Human Breast Carcinoma., [RefSeq, PubMed]; This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; Transcriptional activator that may play a role in the unfolded protein response. Binds to the UPR element (UPRE) but not to CRE element. Preferentially binds DNA with to the consensus sequence 5'-T[GT]ACGT[GA][GT]-3' and has transcriptional activation activity from UPRE. Binds to NF-kappa-B site and has transcriptional activation activity from NF-kappa-B-containing regulatory elements (By similarity)., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "D3DV62;Q5T4L0;Q86YW6", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q8TEY5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T292-1", "uniprot_id": [ { "id": "TM273_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T292", "type": "external" } ], "mass": 11325.0, "length": 105, "protein_name": "Transmembrane protein 273", "gene_name": "TMEM273", "organism": "Human", "refseq_name": "transmembrane protein 273 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001010863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010863", "type": "external" } ], "gene_names_uniprotkb": "TMEM273; C10orf128", "gene_names_refseq": "C10orf128; TMEM273", "protein_names_uniprotkb": "Transmembrane protein 273", "protein_names_refseq": "transmembrane protein 273 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:170371)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;27920218;28218747;28832583;28904123;29437277;30315122;30410026;31844290;32265295;32357974;32502341;33141586", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6XND2;Q5T289;Q5T291", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5T292-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXF5-1", "uniprot_id": [ { "id": "CRGN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXF5", "type": "external" } ], "mass": 20624.0, "length": 182, "protein_name": "Gamma-crystallin N", "gene_name": "CRYGN", "organism": "Human", "refseq_name": "gamma-crystallin N isoform b", "refseq_ac": [ { "id": "NP_001295221", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295221", "type": "external" } ], "gene_names_uniprotkb": "CRYGN", "gene_names_refseq": "CRYGN", "protein_names_uniprotkb": "Gamma-crystallin N; Gamma-N-crystallin", "protein_names_refseq": "gamma-N-crystallin; gamma-crystallin N isoform b; gamma-crystallin N; gammaN-crystallin", "tax_id": 9606, "disease": "", "pathway": " (hsa:155051)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;15853812;30379171;37217939", "class_list": "", "function": "Crystallins are the dominant structural components of the vertebrate eye lens. Also plays an important role for integrity and function of auditory nuclei., [UniProtKB, UniProtKB]; GammaN-crystallin represents an intermediate in the evolution of beta and gamma crystallins. Crygn is expressed in mice and other species but may be a pseudogene in humans., [RefSeq, PubMed]; This gene encodes a member of the crystallin family of proteins that are localized to the refractive structure of vertebrate eye lenses. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q496G6", "ec_number_list": [], "go_molecular_function": "GO:0005212 structural constituent of eye lens", "go_cellular_component": "", "go_biological_process": "GO:0007601 visual perception;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8WXF5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8TX70-1", "uniprot_id": [ { "id": "CO6A5_HUMAN", "url": "https://www.uniprot.org/uniprot/A8TX70", "type": "external" } ], "mass": 289926.0, "length": 2615, "protein_name": "Collagen alpha-5(VI) chain", "gene_name": "COL6A5", "organism": "Human", "refseq_name": "collagen alpha-5(VI) chain isoform 1 precursor", "refseq_ac": [ { "id": "NP_001265227", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265227", "type": "external" } ], "gene_names_uniprotkb": "COL6A5; COL29A1; VWA4", "gene_names_refseq": "COL29A1; COL6A5; VWA4", "protein_names_uniprotkb": "Collagen alpha-5(VI) chain; Collagen alpha-1(XXIX) chain; von Willebrand factor A domain-containing protein 4", "protein_names_refseq": "collagen alpha-5(VI) chain isoform 1 precursor; collagen alpha-5(VI) chain; collagen, type VI, alpha 5; collagen, type XXIX, alpha 1; von Willebrand factor A domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:256076); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-186797); (R-HSA-2022090); (R-HSA-216083); (R-HSA-3000178); (R-HSA-419037); (R-HSA-8948216)", "pathway_count": 9, "publication_count": 243, "publication_id_list": "10022829;10049780;10209034;10339611;10366422;10438935;10479448;10508235;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11084047;11119712;11158588;11237011;11259413;11518510;11572855;11577169;11713259;11927537;11980922;12225811;12369853;12473679;12475640;12482924;12496264;12538485;12579531;12585966;12646579;12682293;12765789;12807887;1311092;1323838;1376317;1400327;14500733;14602708;14715956;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15615512;15713743;15767546;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16267048;16293224;16331269;1639841;16436588;16474853;16493581;16591531;16731529;16754661;16825197;16933105;1704217;17088321;171650;17339034;17367763;17588949;17604334;17850181;17943726;17968485;18059411;18276594;18400749;18487197;18559524;18622425;18710925;18775695;18839421;19075007;19502598;19564526;19693541;20033473;2005102;2010551;20470363;2059554;20705068;20813817;21251937;21376233;21593211;21642437;2169335;21789315;21878990;21935455;21967573;22134916;22241472;22382088;2253219;22539938;22884367;22933705;2307289;23374253;23481700;23583652;2364322;2412224;2420006;2430969;24715725;25328409;2537292;2543975;2548603;2551898;25597754;2809592;28228285;2834383;28435517;2845110;28832583;28904123;29093181;29137923;29217820;29263244;29408302;29557506;29632711;29964125;3038863;30389923;31085175;31275967;3173483;31844290;32193401;3223920;32326527;32350084;32938616;33633747;33974636;34932366;35051231;35251023;35494241;35580925;36215666;3905801;3938630;6193777;6258630;6270089;6307276;6439184;6694361;6809411;710450;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7852349;7890717;8002934;8118028;8207089;8262246;8344274;8440685;8463259;8560266;8576151;8798654;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9443892;9545296;9560306;9565552;9582318;9651395;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "Collagen VI acts as a cell-binding protein., [UniProtKB, UniProtKB, UniProtKB]; Collagen type VI alpha5 gene variations may predict the risk of lung cancer development in Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects. Publication Status: Online-Only, [RefSeq, PubMed]; Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. Publication Status: Online-Only, [RefSeq, PubMed]; The discovery of three additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular matrix., [RefSeq, PubMed]; The longitudinal EWAS for the recessive model showed that a novel SNV, rs11917356 of COL6A5, was significantly associated with systolic blood pressure, and the derived allele at the SNV may have spread throughout East Asia in recent evolutionary time. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]; Three polymorphisms located in COL6A5, COL8A1, and COL10A1 were investigated as potential susceptibility biomarkers for atopic eczema. Publication Status: Online-Only, [RefSeq, PubMed]; To identify the underlying atopic dermatitis disease gene, a dense map of microsatellite markers and single nucleotide polymorphisms was used, and association with AD was detected., [RefSeq, PubMed]; Unlike eczema, genetic variation at COL29A1 and IL31 loci is unlikely to impact inflammatory bowel disease risk, [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 4, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A9J6L2;A9J6L4;A9J6L6;A9J6L7;A9J6M0;A9J6M1;A9J6M2;B5MEA7;Q6ZW26;Q8NA36", "ec_number_list": [], "go_molecular_function": "GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0005589 collagen type VI trimer", "go_biological_process": "GO:0007155 cell adhesion;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 24.4, "record_id": "A8TX70-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96H96-1", "uniprot_id": [ { "id": "COQ2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96H96", "type": "external" } ], "mass": 40475.0, "length": 371, "protein_name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial", "gene_name": "COQ2", "organism": "Human", "refseq_name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_056512", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056512", "type": "external" } ], "gene_names_uniprotkb": "COQ2; CL640", "gene_names_refseq": "CL640; COQ10D1; COQ2; MSA1; PHB:PPT", "protein_names_uniprotkb": "4-hydroxybenzoate polyprenyltransferase, mitochondrial; 2.5.1.39; 4-HB polyprenyltransferase; 4-hydroxybenzoate decaprenyltransferase; COQ2 homolog; PHB:PPT; PHB:polyprenyltransferase; Para-hydroxybenzoate--polyprenyltransferase; hCOQ2", "protein_names_refseq": "4-HB polyprenyltransferase; 4-hydroxybenzoate decaprenyltransferase; 4-hydroxybenzoate polyprenyltransferase, mitochondrial isoform 1; 4-hydroxybenzoate polyprenyltransferase, mitochondrial; PHB:polyprenyltransferase; coenzyme Q2 4-hydroxybenzoate polyprenyltransferase; coenzyme Q2 homolog, prenyltransferase; para-hydroxybenzoate-polyprenyltransferase, mitochondrial", "tax_id": 9606, "disease": "coenzyme Q10 deficiency disease (Disease Ontology:DOID:0050730); primary coenzyme Q10 deficiency 1 (Disease Ontology:DOID:0070238); glucose intolerance (Disease Ontology:DOID:10603); nephrotic syndrome (Disease Ontology:DOID:1184); multiple system atrophy (Disease Ontology:DOID:4752); multiple system atrophy 1, susceptibility to (MONDO:MONDO:0020715)", "pathway": " (hsa:27235); (R-HSA-1268020); (R-HSA-2142789)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10501970;10777520;11237011;12721307;14726512;15153069;15254020;15644312;15683237;15905035;16185709;16262699;16400613;16624818;16643834;16849325;17374725;17510655;17855635;17916383;18174896;18678864;19409522;19453276;19767391;19962426;20526342;20593814;21540551;21750375;21944752;23041349;23343605;23354120;23481700;23597483;23758206;23811401;24270420;25152161;25315652;25339443;25418920;25564041;25576301;26697887;27155576;27493029;27499296;27920218;28044327;28832583;29242379;29632046;31848261;31998317;32707086;33215859;33397173;34471290;35748722;36306796;36658222;38425362;38462771;8621692;9083049", "class_list": "", "function": "COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition., [RefSeq, PubMed]; COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree., [RefSeq, PubMed]; Identification of COQ2 as a regulator of proliferation and lipid peroxidation through genome-scale CRISPR-Cas9 screening in myeloma cells., [RefSeq, PubMed]; Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis (PubMed:15153069, PubMed:16400613, PubMed:17374725, PubMed:20526342). Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl donor (such as all-trans-decaprenyl diphosphate) (PubMed:15153069, PubMed:16400613, PubMed:17374725, PubMed:20526342). The length of the polyprenyl side chain varies depending on the species, in humans, the side chain is comprised of 10 isoprenyls (decaprenyl) producing CoQ10 (also known as ubiquinone), whereas rodents predominantly generate CoQ9 (PubMed:15153069, PubMed:16400613). However, this specificity is not complete, human tissues have low amounts of CoQ9 and rodent organs contain some CoQ10 (PubMed:15153069). Plays a central role in the biosynthesis of CoQ10 (PubMed:15153069, PubMed:16400613, PubMed:17374725). CoQ10 is a vital molecule that transports electrons from mitochondrial respiratory chain complexes (PubMed:16400613, PubMed:17374725, PubMed:27493029). CoQs also function as cofactors for uncoupling protein and play a role as regulators of the extracellularly-induced ceramide-dependent apoptotic pathway (PubMed:16400613, PubMed:17374725). Regulates mitochondrial permeability transition pore (mPTP) opening and ROS production (pivotal events in cell death) in a tissue specific manner (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis. Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl donor (such as all-trans-decaprenyl diphosphate or trans-nonaprenyl diphosphate). The length of the polyprenyl side chain varies depending on the species, in humans, the side chain is comprised of 10 isoprenyls producing CoQ10 (also known as ubiquinone), whereas rodents predominantly generate CoQ9. However, this specificity is not complete, human tissues have low amounts of CoQ9 and rodent organs contain some CoQ10. CoQs are vital molecules that transport electrons from mitochondrial respiratory chain complexes. CoQs also function as cofactors for uncoupling protein and play a role as regulators of the extracellularly-induced ceramide-dependent apoptotic pathway. Regulates mitochondrial permeability transition pore (mPTP) opening and ROS production (pivotal events in cell death) in a tissue specific manner., [UniProtKB, HAMAP]; Substitution of a highly conserved tyrosine to cysteine at amino acid 297 of COQ2 is the first molecular cause of primary CoQ(10) deficiency., [RefSeq, PubMed]; This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]., [RefSeq]; Treatment with CoQs having shorter isoprenoid chains, especially CoQ2, induced apoptosis in p53-point mutated BALL-1 cells, whereas treatment with longer isoprenoid chains did not., [RefSeq, PubMed]; We have found that both 3-[(cholamidopropyl)dimethylammonio]-1-propanesulfonate and sodium cholate, but not sodium deoxycholate, lysophosphatidyl choline, or octylglucoside, significantly stimulate ubiquinone activity over that measured with Triton X-100., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1D8H0A6;O95331;Q1JQ78;Q684R2", "ec_number_list": [ { "id": "3.4.24.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.64", "type": "external" }, { "id": "2.1.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.3.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "1.1.98.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.98.-", "type": "external" }, { "id": "2.5.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.39", "type": "external" }, { "id": "2.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.-", "type": "external" } ], "go_molecular_function": "GO:0004659 prenyltransferase activity;GO:0008412 4-hydroxybenzoate polyprenyltransferase activity", "go_cellular_component": "GO:0031314 extrinsic component of mitochondrial inner membrane;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0006744 ubiquinone biosynthetic process;GO:0006071 glycerol metabolic process;GO:0008299 isoprenoid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q96H96-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JB2-1", "uniprot_id": [ { "id": "COG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JB2", "type": "external" } ], "mass": 94096.0, "length": 828, "protein_name": "Conserved oligomeric Golgi complex subunit 3", "gene_name": "COG3", "organism": "Human", "refseq_name": "conserved oligomeric Golgi complex subunit 3", "refseq_ac": [ { "id": "NP_113619", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113619", "type": "external" } ], "gene_names_uniprotkb": "COG3; SEC34", "gene_names_refseq": "CDG2BB; COG3; SEC34", "protein_names_uniprotkb": "Conserved oligomeric Golgi complex subunit 3; COG complex subunit 3; Component of oligomeric Golgi complex 3; Vesicle-docking protein SEC34 homolog; p94", "protein_names_refseq": "COG complex subunit 3; conserved oligomeric Golgi complex subunit 3; p94; tethering factor SEC34; vesicle-docking protein SEC34 homolog", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIbb (Disease Ontology:DOID:0051047)", "pathway": " (hsa:83548); (R-HSA-6807878); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 4, "publication_count": 239, "publication_id_list": "10052452;10189370;10209123;10318838;10445031;10559959;10637310;10652308;10652516;10679020;10761932;10865125;10903204;10921873;10990452;11035033;11172815;11237011;11285137;11292827;11303027;11306556;11346801;11359012;11461920;11689439;11689559;11703931;11718716;11726511;11748249;11827983;11839770;11929878;12011112;12047556;12070132;12377769;12383348;12388752;12429822;12620188;12620189;12634853;12665801;14580338;14654841;14718928;14742712;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16129887;1631136;16571679;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;16959974;17253781;17274799;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18086915;18182008;18195106;18243103;18256213;18283113;18367545;18451304;18524849;18664496;18691976;18809720;18946081;1898986;19015319;19109418;19164740;19296914;19490898;19536132;1957170;19620288;19631211;19690332;19715559;19758564;20068231;20163571;20357002;20427317;20637885;20685960;20874812;21183348;21219331;21421921;21436057;21689688;21807881;21844168;22013193;22094269;22188167;22223895;22304919;22335553;22354037;22581368;22717455;23091056;23186163;23239882;23378023;23437303;23462996;23481700;23839779;23936529;23940353;24119662;24794632;24806965;25343031;25436559;25492864;25576301;25708460;25880248;26992070;27600516;28228285;28832583;28904123;29237092;29242379;29351928;29493099;29508533;29557506;30315122;30429286;31020640;31217245;31844290;32157095;32357974;32387766;32897882;32938616;32983136;33298915;33392160;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35580925;36010968;36241641;36284347;37711075;40914422;7691276;7909812;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8670882;8945478;8991093;9050864;9114004;9150144;9177194;9230071;9244307;9288971;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "glycogene", "function": "Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking., [RefSeq, PubMed]; Involved in ER-Golgi transport (PubMed:11929878). Also involved in retrograde (Golgi to ER) transport (PubMed:37711075)., [UniProtKB, PubMed, PubMed]; Sec34 is implicated in traffic from the endoplasmic reticulum to the Golgi and exists in a complex with GTC-90 and ldlBp, [RefSeq, PubMed]; This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 781, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RAW5;Q5VT70;Q8IXX4;Q9BZ92", "ec_number_list": [], "go_molecular_function": "GO:0140312 cargo adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0009101 glycoprotein biosynthetic process;GO:0050821 protein stabilization;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 24.4, "record_id": "Q96JB2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AQ7-1", "uniprot_id": [ { "id": "CIDEC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AQ7", "type": "external" } ], "mass": 26754.0, "length": 238, "protein_name": "Lipid transferase CIDEC", "gene_name": "CIDEC", "organism": "Human", "refseq_name": "lipid transferase CIDEC isoform 2", "refseq_ac": [ { "id": "NP_001186480", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186480", "type": "external" } ], "gene_names_uniprotkb": "CIDEC; FSP27", "gene_names_refseq": "CIDE-3; CIDE3; CIDEC; FPLD5; FSP27", "protein_names_uniprotkb": "Lipid transferase CIDEC; Cell death activator CIDE-3; Cell death-inducing DFFA-like effector protein C; Fat-specific protein FSP27 homolog", "protein_names_refseq": "cell death activator CIDE-3; fat specific protein 27; lipid transferase CIDEC isoform 2; lipid transferase CIDEC", "tax_id": 9606, "disease": "familial partial lipodystrophy type 5 (Disease Ontology:DOID:0070203)", "pathway": " (hsa:63924); (R-HSA-8964572); (R-HSA-9841922)", "pathway_count": 3, "publication_count": 49, "publication_id_list": "10425206;10558993;10835357;10882139;11027271;11237011;12429024;12829629;1310260;16380219;17311113;17761950;18160536;18334488;18509062;19043829;19172745;19843876;20049731;20624928;22106267;23399566;24519944;25028495;26322308;26515554;27862975;28228285;29557506;29769354;29786170;30361435;31154438;31222486;31433737;31560287;31844290;31848261;31998317;33109704;33329381;35580925;37079518;38159847;8521497;8521498;9065481;9171241;9744270", "class_list": "", "function": "Cloning and characterization as a member of the cell-death-inducing DNA-fragmentation-factor (DFF45)-like effector family, [RefSeq, PubMed]; FSP27 binds to lipid droplets and regulates their enlargement, [RefSeq, PubMed]; Fat-Specific Protein 27 Regulation of Vascular Function in Human Obesity., [RefSeq, PubMed]; Lipid transferase specifically expressed in white adipose tissue, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion (PubMed:18334488, PubMed:19843876, PubMed:20049731, PubMed:23399566, PubMed:30361435). Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring lipid storage (PubMed:18334488, PubMed:19843876, PubMed:20049731, PubMed:23399566). Localizes on the lipid droplet surface, at focal contact sites between lipid droplets, and mediates atypical lipid droplet fusion by undergoing liquid-liquid phase separation (LLPS) and promoting directional net neutral lipid transfer from the smaller to larger lipid droplets (PubMed:18334488, PubMed:19843876, PubMed:20049731, PubMed:23399566). The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair (PubMed:18334488, PubMed:19843876, PubMed:20049731, PubMed:23399566). Its role in neutral lipid transfer and lipid droplet enlargement is activated by the interaction with PLIN1 (PubMed:23399566). May also act as a CEBPB coactivator in the white adipose tissue to control the expression of a subset of CEBPB downstream target genes, including SOCS1, SOCS3, TGFB1, TGFBR1, ID2 and XDH (By similarity). When overexpressed in preadipocytes, induces apoptosis or increases cell susceptibility to apoptosis induced by serum deprivation or TGFB treatment (PubMed:12429024)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; New Insights into Apolipoprotein A5 and the Modulation of Human Adipose-derived Mesenchymal Stem Cells Adipogenesis., [RefSeq, PubMed]; Paxillin family proteins Hic-5 and LPXN promote lipid storage by regulating the ubiquitination degradation of CIDEC., [RefSeq, PubMed]; Rare CIDEC coding variants enriched in age-related macular degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JMN7;Q67DW9;Q9GZY9", "ec_number_list": [], "go_molecular_function": "GO:0070300 phosphatidic acid binding;GO:0120013 lipid transfer activity;GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0090209 negative regulation of triglyceride metabolic process;GO:0006915 apoptotic process;GO:0050995 negative regulation of lipid catabolic process;GO:0097194 execution phase of apoptosis", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q96AQ7-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2UY09-1", "uniprot_id": [ { "id": "COSA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2UY09", "type": "external" } ], "mass": 116657.0, "length": 1125, "protein_name": "Collagen alpha-1(XXVIII) chain", "gene_name": "COL28A1", "organism": "Human", "refseq_name": "collagen alpha-1(XXVIII) chain precursor", "refseq_ac": [ { "id": "NP_001032852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032852", "type": "external" } ], "gene_names_uniprotkb": "COL28A1; COL28", "gene_names_refseq": "COL28A1; COL28", "protein_names_uniprotkb": "Collagen alpha-1(XXVIII) chain", "protein_names_refseq": "collagen alpha-1(XXVIII) chain precursor; collagen alpha-1(XXVIII) chain; collagen, type XXVIII, alpha 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:340267); (R-HSA-1650814); (R-HSA-8948216)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10479448;10934207;11237011;12473679;12475640;12646579;1323838;14500733;15044469;1577494;16330543;16591531;171650;18487197;19075007;19693541;19913121;20470363;20628086;21878990;21967573;25418920;2543975;30459171;31154438;3173483;31848261;31998317;32387766;32488085;33968037;35051231;36883360;38253038;3905801;3938630;6307276;6809411;710450;9054364;9545296;9560306;9582318", "class_list": "", "function": "COL28 promotes proliferation, migration, and EMT of renal tubular epithelial cells., [RefSeq, PubMed]; COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]., [RefSeq]; Collagen XXVIII is a novel von Willebrand factor A domain-containing protein with many imperfections in the collagenous domain, [RefSeq, PubMed]; May act as a cell-binding protein., [UniProtKB]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A4D101;A4D106;A4D107;A8MVR2;B9EGX9;Q2UY07;Q2UY08", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005604 basement membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0030199 collagen fibril organization;GO:0048705 skeletal system morphogenesis", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q2UY09-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B23-1", "uniprot_id": [ { "id": "ARK2N_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B23", "type": "external" } ], "mass": 43395.0, "length": 404, "protein_name": "Protein ARK2N", "gene_name": "ARK2N", "organism": "Human", "refseq_name": "protein ARK2N isoform b", "refseq_ac": [ { "id": "NP_001008240", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008240", "type": "external" } ], "gene_names_uniprotkb": "ARK2N; ARKL1; C18orf25", "gene_names_refseq": "ARK2N; ARKL1; C18orf25; RNF111L1", "protein_names_uniprotkb": "Protein ARK2N; ARKadia-like protein 1; Arkadia (RNF111) N-terminal like PKA signaling regulator protein 2N", "protein_names_refseq": "ARKadia (RNF111) N-terminal like PKA signaling regulator protein 2N; ARKadia-like 1; ARKadia-like protein 1; protein ARK2N isoform b; protein ARK2N; uncharacterized protein C18orf25", "tax_id": 9606, "disease": "", "pathway": " (hsa:147339)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;15722956;17081983;17525332;18212344;18220336;18452278;18669648;18691976;18707149;18767875;19240061;19415658;19651622;20068231;21406692;23186163;23301498;24129315;24216761;26992070;27862975;27920218;28218747;28832583;29242379;29485866;29493099;29508533;29557506;29632711;30410026;30484775;30779550;31092671;31154438;31341047;31373491;31844290;31848261;32157095;32161166;32488085;32938616;33141586;33298915;33633747;33912179;33936100;33968037;33981976;34087483;34171305;34211107;35051231;35318648;35580925;35705054;35882232", "class_list": "", "function": "(Microbial infection) Upon Epstein-Barr virus (EBV) infection, suppresses viral BZLF1 expression and subsequent EBV reactivation by interacting with JUN and inhibiting its transcriptional activator activity on BZLF1 Z promoter., [UniProtKB, PubMed]; AMPK substrate important for exercise capacity and skeletal muscle function. Required for normal contraction-induced signaling., [UniProtKB, PubMed]; ARKL1 binds CK2beta through the KSSR motif and this involves a polyserine sequence resembling the CK2beta binding sequence in EBNA1., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phosphoproteomics of three exercise modalities identifies canonical signaling and C18ORF25 as an AMPK substrate regulating skeletal muscle function., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K123;A8KAB6;Q5BIX2;Q5XG78;Q6N058;Q86TB5;Q8TCQ5", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006511 ubiquitin-dependent protein catabolic process;GO:1903901 negative regulation of viral life cycle", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q96B23-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15021-1", "uniprot_id": [ { "id": "CND1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15021", "type": "external" } ], "mass": 157182.0, "length": 1401, "protein_name": "Condensin complex subunit 1", "gene_name": "NCAPD2", "organism": "Human", "refseq_name": "condensin complex subunit 1", "refseq_ac": [ { "id": "NP_055680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055680", "type": "external" } ], "gene_names_uniprotkb": "NCAPD2; CAPD2; CNAP1; KIAA0159", "gene_names_refseq": "CAP-D2; CNAP1; MCPH21; NCAPD2; hCAP-D2", "protein_names_uniprotkb": "Condensin complex subunit 1; Chromosome condensation-related SMC-associated protein 1; Chromosome-associated protein D2; Non-SMC condensin I complex subunit D2; XCAP-D2 homolog; hCAP-D2", "protein_names_refseq": "XCAP-D2 homolog; chromosome condensation-related SMC-associated protein 1; chromosome-associated protein D2; condensin complex subunit 1", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 21 (Disease Ontology:DOID:0051032)", "pathway": " (hsa:9918); (R-HSA-2514853)", "pathway_count": 2, "publication_count": 147, "publication_id_list": "10958694;11136719;11237011;12138188;14607834;15146063;15572404;16964243;17066080;17081983;17356064;17525332;18220336;18446792;18452278;18669648;18691976;18977199;19007248;19413330;19415658;19481522;19651622;19664995;19690332;19691289;20058876;20068231;20112406;21406692;21498573;22424782;23186163;23301498;23481700;23783831;24366607;24714562;24715725;25418920;25469497;25502872;25576301;25645385;25810538;25880248;26154972;26375851;26728094;26811146;26992070;27600516;27737959;27846572;27862975;27893789;27920218;28063628;28097321;28218747;28228285;28446606;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31324691;31373491;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34229059;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35132862;35254053;35318648;35348268;35580925;36010968;36215666;36241641;36284347;36701707;37498296;37938771;38253038;38665916;40307207;40596516;40914422;41350704;9774278", "class_list": "", "function": "Data show the CNAP1 C-terminal region defines a novel histone-binding domain that is responsible for targeting CNAP1, and possibly condensin, to mitotic chromosomes., [RefSeq, PubMed]; NCAPD2 inhibits autophagy by regulating Ca(2+)/CAMKK2/AMPK/mTORC1 pathway and PARP-1/SIRT1 axis to promote colorectal cancer., [RefSeq, PubMed]; NCAPD2 is a novel marker for the poor prognosis of lung adenocarcinoma and is associated with immune infiltration and tumor mutational burden., [RefSeq, PubMed]; NCAPD2 promotes breast cancer progression through E2F1 transcriptional regulation of CDK1., [RefSeq, PubMed]; Non-SMC condensin I complex subunit D2 (NCAPD2) reveals its prognostic and immunologic features in human cancers., [RefSeq, PubMed]; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. May target the condensin complex to DNA via its C-terminal domain (PubMed:11136719). May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of non-centromeric ultrafine DNA bridges during anaphase. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size (PubMed:27737959)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "D3DUR4;Q8N6U3", "ec_number_list": [], "go_molecular_function": "GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051301 cell division;GO:0007076 mitotic chromosome condensation;GO:0010032 meiotic chromosome condensation;GO:1905821 positive regulation of chromosome condensation", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "Q15021-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B96-1", "uniprot_id": [ { "id": "LDAF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B96", "type": "external" } ], "mass": 17522.0, "length": 161, "protein_name": "Lipid droplet assembly factor 1", "gene_name": "LDAF1", "organism": "Human", "refseq_name": "lipid droplet assembly factor 1 isoform 2", "refseq_ac": [ { "id": "NP_001288698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288698", "type": "external" } ], "gene_names_uniprotkb": "LDAF1; TMEM159", "gene_names_refseq": "LDAF1; TMEM159", "protein_names_uniprotkb": "Lipid droplet assembly factor 1; Promethin; Transmembrane protein 159", "protein_names_refseq": "PROMETHIN; lipid droplet assembly factor 1 isoform 2; transmembrane protein 159", "tax_id": 9606, "disease": "", "pathway": " (hsa:57146)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;15589683;24715725;28514659;28904123;29242379;30901948;31092671;31708432;31844290;32350084;35251023", "class_list": "", "function": "Plays an important role in the formation of lipid droplets during the differentiation and maturation of adipocytes (PubMed:31708432). Together with seipin (BSCL2), defines the sites of lipid droplet formation in the endoplasmic reticulum and promotes the aggregation of triacylglycerol molecules to form the core of a lipid droplet (nucleation) in the endoplasmic reticulum and drive budding of lipid droplets into the cytoplasm (PubMed:31708432)., [UniProtKB, PubMed]; Promethin is indeed an lipid droplet-associated protein that forms a complex with seipin. Publication Status: Online-Only, [RefSeq, PubMed]; The LDAF1binds seipin and determines the sites of lipid droplet formation in the ER. LDAF1-seipin complex is the core protein machinery that facilitates LD biogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NMA9;B4DEC1;O00323", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0140042 lipid droplet formation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96B96-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWP8-1", "uniprot_id": [ { "id": "COL11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWP8", "type": "external" } ], "mass": 28665.0, "length": 271, "protein_name": "Collectin-11", "gene_name": "COLEC11", "organism": "Human", "refseq_name": "collectin-11 isoform c precursor", "refseq_ac": [ { "id": "NP_001242911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242911", "type": "external" } ], "gene_names_uniprotkb": "COLEC11; PRO1182", "gene_names_refseq": "3MC2; CL-11; CL-K1-IIa; CL-K1-IIb; CL-K1-II; CL-K1-I; CLK1; COLEC11", "protein_names_uniprotkb": "Collectin-11; CL-K1; Collectin kidney protein 1", "protein_names_refseq": "Collectin K1; collectin kidney protein 1; collectin sub-family member 11; collectin-11 isoform c precursor", "tax_id": 9606, "disease": "3MC syndrome 2 (Disease Ontology:DOID:0060576); cleft palate (Disease Ontology:DOID:674)", "pathway": " (hsa:78989); (R-HSA-166662); (R-HSA-166663); (R-HSA-3000480)", "pathway_count": 4, "publication_count": 88, "publication_id_list": "10224290;10639434;10651831;10686426;10722588;10925294;11237011;11532276;11564734;11820786;12396008;12488451;12761161;12763022;12847263;12975309;1339697;14280442;14609958;14702039;15199963;15489334;15728497;15815621;16237101;16525990;16882874;16926412;16984918;17179669;17332894;17709607;17974005;1852209;18669648;19073604;19227971;19911804;20360967;20810988;20849212;20888598;20956340;21258343;21664996;21782039;21893516;2251254;22570530;2318890;23197261;23220946;23954398;24275569;25912189;26173080;26375851;28301481;29557506;30779550;30995222;31611695;32041782;32045104;32350084;32751929;34615657;3467373;35251023;36883567;41105922;6019133;6088540;6255257;70787;7391573;7607209;8127896;8429030;8538770;8751442;8784195;8933348;9225214;9465098;9468508;9511720;9548586", "class_list": "glycogene", "function": "Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome. Review article Publication Status: Online-Only, [RefSeq, PubMed]; CL-11 plays a role in activation of the complement system and in the defense against invading microorganisms, [RefSeq, PubMed]; Collectin-11 associates with all the known MBL-associated serine proteases (MASP-1, MASP-2 and MASP-3) as well as the lectin complement pathway regulator MAP-1., [RefSeq, PubMed]; Collectin-11 promotes cancer cell proliferation and tumor growth. Publication Status: Online-Only, [RefSeq, PubMed]; Collectin11 and Complement Activation in IgA Nephropathy., [RefSeq, PubMed]; Data show that the concentration of collectin kidney 1 (CL-K1, COLEC11) in plasma was 0.34 +/- 0.13 microg/ml and that in mannan-binding lectin (MBL) was 1.72 +/- 1.51 microg/ml., [RefSeq, PubMed]; Importance of glycosylation in the interaction of Tamm-Horsfall protein with collectin-11 and acute kidney injury., [RefSeq, PubMed]; Lectin that plays a role in innate immunity, apoptosis and embryogenesis (PubMed:21258343, PubMed:23954398, PubMed:25912189). Calcium-dependent lectin that binds self and non-self glycoproteins presenting high mannose oligosaccharides with at least one terminal alpha-1,2-linked mannose epitope (PubMed:25912189). Primarily recognizes the terminal disaccharide of the glycan (PubMed:25912189). Also recognizes a subset of fucosylated glycans and lipopolysaccharides (PubMed:17179669, PubMed:25912189). Plays a role in innate immunity through its ability to bind non-self sugars presented by microorganisms and to activate the complement through the recruitment of MAPS1 (PubMed:20956340, PubMed:25912189). Also plays a role in apoptosis through its ability to bind in a calcium-independent manner the DNA present at the surface of apoptotic cells and to activate the complement in response to this binding (Probable). Finally, plays a role in development, probably serving as a guidance cue during the migration of neural crest cells and other cell types during embryogenesis (PubMed:21258343, PubMed:28301481)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; These findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome., [RefSeq, PubMed]; This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 360, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1IGE4;A1IGE5;A1IGE6;A7VJJ2;A7VJJ3;A7VJJ4;A7VJJ5;B2R9M5;B4E1G0;J3KQY9;Q5CZ85;Q7Z6N1", "ec_number_list": [], "go_molecular_function": "GO:0070492 oligosaccharide binding;GO:0003677 DNA binding;GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0005537 D-mannose binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0009897 external side of plasma membrane;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0006508 proteolysis;GO:0032502 developmental process;GO:0097194 execution phase of apoptosis;GO:0019730 antimicrobial humoral response;GO:0001867 complement activation, lectin pathway", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9BWP8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9E3-1", "uniprot_id": [ { "id": "COG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9E3", "type": "external" } ], "mass": 89083.0, "length": 785, "protein_name": "Conserved oligomeric Golgi complex subunit 4", "gene_name": "COG4", "organism": "Human", "refseq_name": "conserved oligomeric Golgi complex subunit 4 isoform 1", "refseq_ac": [ { "id": "NP_056201", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056201", "type": "external" } ], "gene_names_uniprotkb": "COG4", "gene_names_refseq": "CDG2J; COD1; COG4; SWILS", "protein_names_uniprotkb": "Conserved oligomeric Golgi complex subunit 4; COG complex subunit 4; Component of oligomeric Golgi complex 4", "protein_names_refseq": "COG complex subunit 4; complexed with Dor1p; conserved oligomeric Golgi complex protein 4; conserved oligomeric Golgi complex subunit 4 isoform 1", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIj (Disease Ontology:DOID:0070262); Saul-Wilson syndrome (Disease Ontology:DOID:0111673)", "pathway": " (hsa:25839); (R-HSA-6807878); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 4, "publication_count": 267, "publication_id_list": "10.1101/2023.09.13.557529;10052452;10189370;10209123;10318838;10445031;10559959;10637310;10652308;10652516;10679020;10761932;10865125;10903204;10921873;10990452;11035033;11172815;11237011;11285137;11303027;11306556;11346801;11359012;11461920;11689439;11689559;11703931;11703943;11718716;11726511;11748249;11827983;11839770;12011112;12047556;12070132;12377769;12383348;12388752;12429822;12620188;12620189;12634853;14580338;14654841;14718928;14742712;14759258;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16129887;1631136;16571679;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17253781;17274799;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18086915;18182008;18195106;18243103;18256213;18283113;18367545;18451304;18524849;18664496;18809720;18946081;1898986;19015319;19109418;19164740;19296914;19490898;19494034;19536132;1957170;19620288;19631211;19651599;19715559;19758564;20163571;20357002;20427317;20637885;20685960;20874812;21183348;21219331;21421921;21436057;21689688;21807881;21844168;21872626;22013193;22094269;22188167;22304919;22335553;22354037;22424782;22544926;22581368;22717455;23091056;23186163;23239882;23378023;23437303;23462996;23481700;23839779;23936529;23940353;24119662;24715725;24794632;24806965;25343031;25418920;25436559;25492864;25576301;25645385;25708460;26154972;26375851;26811146;26992070;27600516;27846572;27920218;28218747;28228285;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30290151;30315122;30524438;30833945;31530632;31844290;31848261;31937595;32157095;32350084;32357974;32387766;32488085;32502341;32652690;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;39894887;40914422;7691276;7909812;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8670882;8945478;8991093;9050864;9114004;9150144;9177194;9230071;9244307;9288971;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "glycogene", "function": "Growth in individuals with Saul-Wilson syndrome., [RefSeq, PubMed]; Required for normal Golgi function (PubMed:19536132, PubMed:30290151). Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1 (PubMed:19536132)., [UniProtKB, PubMed, PubMed]; Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1., [UniProtKB, UniProtKB]; The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 94, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DMN8;C9JS23;Q96D40;Q9BRF0;Q9BVZ2;Q9H5Y4;Q9Y3W3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane;GO:0017119 Golgi transport complex", "go_biological_process": "GO:0015031 protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0007030 Golgi organization;GO:0000301 retrograde transport, vesicle recycling within Golgi", "synthesized_glycan_count": 0, "hit_score": 27.2, "record_id": "Q9H9E3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26651-1", "uniprot_id": [ { "id": "TTP_HUMAN", "url": "https://www.uniprot.org/uniprot/P26651", "type": "external" } ], "mass": 34003.0, "length": 326, "protein_name": "mRNA decay activator protein ZFP36", "gene_name": "ZFP36", "organism": "Human", "refseq_name": "mRNA decay activator protein ZFP36", "refseq_ac": [ { "id": "NP_003398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003398", "type": "external" } ], "gene_names_uniprotkb": "ZFP36; G0S24; NUP475; RNF162A; TIS11A; TTP", "gene_names_refseq": "G0S24; GOS24; NUP475; RNF162A; TIS11; TTP; ZFP36; zfp-36", "protein_names_uniprotkb": "mRNA decay activator protein ZFP36; G0/G1 switch regulatory protein 24; Growth factor-inducible nuclear protein NUP475; Tristetraprolin; Zfp-36; Zinc finger protein 36", "protein_names_refseq": "G0/G1 switch regulatory protein 24; ZFP36 ring finger protein; growth factor-inducible nuclear protein NUP475; mRNA decay activator protein ZFP36; tristetraproline; tristetraprolin; zinc finger protein 36 homolog; zinc finger protein 36, C3H type, homolog", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:7538); (R-HSA-450513)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10330172;10751406;11237011;11279239;11719186;12115244;12324455;12639954;12646273;12705825;12748283;14679154;14688255;14766228;15014438;15117938;15187101;15634918;15687258;15766526;15944294;16126846;16262601;16364915;16508015;16702957;17030620;17133347;17369404;18367721;18481987;18669648;19188452;19729507;20166898;20221403;2062660;20702587;21078877;21775632;21964062;23186163;23481700;23644599;24715725;25010646;25106868;25576301;25645385;25815583;26926077;27182009;27193233;27846572;27920218;28228285;28548957;28832583;28904123;29242379;29246442;29493099;29557506;29632711;29786170;30524438;31439631;31844290;32039742;32157095;32357974;32387766;32938616;32983136;33141586;33298915;33936100;33968037;33981976;34087483;34211107;34509645;35051231;36284347;37587140;37707056;38351596;7506728;7584149;9703499", "class_list": "", "function": "(Microbial infection) Negatively regulates HTLV-1 TAX-dependent transactivation of viral long terminal repeat (LTR) promoter., [UniProtKB, PubMed]; Persistent infection with Porphyromonas gingivalis increases the tumorigenic potential of human immortalised oral epithelial cells through ZFP36 inhibition., [RefSeq, PubMed]; ZFP36 loss-mediated BARX1 stabilization promotes malignant phenotypes by transactivating master oncogenes in NSCLC. Erratum:[Cell Death Dis. 2025 May 22;16(1):410. doi: 10.1038/s41419-025-07718-6. PMID: 40404626] Publication Status: Online-Only, [RefSeq, PubMed]; ZIKV induction of tristetraprolin in endothelial and Sertoli cells post-transcriptionally inhibits IFNbeta/lambda expression and promotes ZIKV persistence., [RefSeq, PubMed]; Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis (PubMed:10330172, PubMed:10751406, PubMed:11279239, PubMed:12115244, PubMed:12748283, PubMed:15187101, PubMed:15634918, PubMed:16702957, PubMed:17030620, PubMed:20221403, PubMed:20702587, PubMed:21775632, PubMed:23644599, PubMed:25815583, PubMed:27193233, PubMed:31439631, PubMed:9703499). Acts as an 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery (PubMed:15687258, PubMed:23644599). Recruits deadenylase CNOT7 (and probably the CCR4-NOT complex) via association with CNOT1, and hence promotes ARE-mediated mRNA deadenylation (PubMed:23644599). Functions also by recruiting components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs (PubMed:11719186, PubMed:12748283, PubMed:15687258, PubMed:16364915). Self regulates by destabilizing its own mRNA (PubMed:15187101). Binds to 3'-UTR ARE of numerous mRNAs and of its own mRNA (PubMed:10330172, PubMed:10751406, PubMed:12115244, PubMed:15187101, PubMed:15634918, PubMed:16702957, PubMed:17030620, PubMed:19188452, PubMed:20221403, PubMed:20702587, PubMed:21775632, PubMed:25815583). Plays a role in anti-inflammatory responses; suppresses tumor necrosis factor (TNF)-alpha production by stimulating ARE-mediated TNF mRNA decay and several other inflammatory ARE-containing mRNAs in interferon (IFN)- and/or lipopolysaccharide (LPS)-induced macrophages (By similarity). Also plays a role in the regulation of dendritic cell maturation at the post-transcriptional level, and hence operates as part of a negative feedback loop to limit the inflammatory response (PubMed:18367721). Promotes ARE-mediated mRNA decay of hypoxia-inducible factor HIF1A mRNA during the response of endothelial cells to hypoxia (PubMed:21775632). Positively regulates early adipogenesis of preadipocytes by promoting ARE-mediated mRNA decay of immediate early genes (IEGs) (By similarity). Negatively regulates hematopoietic/erythroid cell differentiation by promoting ARE-mediated mRNA decay of the transcription factor STAT5B mRNA (PubMed:20702587). Plays a role in maintaining skeletal muscle satellite cell quiescence by promoting ARE-mediated mRNA decay of the myogenic determination factor MYOD1 mRNA (By similarity). Associates also with and regulates the expression of non-ARE-containing target mRNAs at the post-transcriptional level, such as MHC class I mRNAs (PubMed:18367721). Participates in association with argonaute RISC catalytic components in the ARE-mediated mRNA decay mechanism; assists microRNA (miRNA) targeting ARE-containing mRNAs (PubMed:15766526). May also play a role in the regulation of cytoplasmic mRNA decapping; enhances decapping of ARE-containing RNAs, in vitro (PubMed:16364915). Involved in the delivery of target ARE-mRNAs to processing bodies (PBs) (PubMed:17369404). In addition to its cytosolic mRNA-decay function, affects nuclear pre-mRNA processing (By similarity). Negatively regulates nuclear poly(A)-binding protein PABPN1-stimulated polyadenylation activity on ARE-containing pre-mRNA during LPS-stimulated macrophages (By similarity). Also involved in the regulation of stress granule (SG) and P-body (PB) formation and fusion (By similarity). Plays a role in the regulation of keratinocyte proliferation, differentiation and apoptosis (PubMed:27182009). Plays a role as a tumor suppressor by inhibiting cell proliferation in breast cancer cells (PubMed:26926077)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 26, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RA54", "ec_number_list": [], "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:0032703 negative regulation of interleukin-2 production;GO:0031086 nuclear-transcribed mRNA catabolic process, deadenylation-independent decay;GO:1902172 regulation of keratinocyte apoptotic process;GO:1904582 positive regulation of intracellular mRNA localization", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "P26651-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HR9-1", "uniprot_id": [ { "id": "REEP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HR9", "type": "external" } ], "mass": 23418.0, "length": 211, "protein_name": "Receptor expression-enhancing protein 6", "gene_name": "REEP6", "organism": "Human", "refseq_name": "receptor expression-enhancing protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001316485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316485", "type": "external" } ], "gene_names_uniprotkb": "REEP6; C19orf32; DP1L1", "gene_names_refseq": "C19orf32; DP1L1; REEP6.1; REEP6.2; REEP6; RP77; TB1; TB2L1; Yip2f", "protein_names_uniprotkb": "Receptor expression-enhancing protein 6; Polyposis locus protein 1-like 1", "protein_names_refseq": "deleted in polyposis 1-like 1; polyposis locus protein 1-like 1; receptor expression-enhancing protein 6 isoform 1; receptor expression-enhancing protein 6", "tax_id": 9606, "disease": "retinitis pigmentosa 77 (Disease Ontology:DOID:0080350); hereditary spastic paraplegia 31 (Disease Ontology:DOID:0110782)", "pathway": " (hsa:92840)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;15550249;16720576;19924442;24098485;26992070;27889058;28369466;29120066;29557506;33917198;35494241", "class_list": "", "function": "Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population. Publication Status: Online-Only, [RefSeq, PubMed]; DP1L1 polymorphisms are associated with colon cancer and IBD. This indicates that DP1L1 plays a functional role in these conditions. Thus DP1L1 may be a diagnostic and therapeutic target for colon cancer and IBD. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for correct function and survival of retinal photoreceptors (PubMed:27889058). Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1L5BXV3;B2RE01;D6W5Z0;Q96LM0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0030665 clathrin-coated vesicle membrane;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0050908 detection of light stimulus involved in visual perception;GO:0007029 endoplasmic reticulum organization", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96HR9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05997-1", "uniprot_id": [ { "id": "CO5A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P05997", "type": "external" } ], "mass": 144910.0, "length": 1499, "protein_name": "Collagen alpha-2(V) chain", "gene_name": "COL5A2", "organism": "Human", "refseq_name": "collagen alpha-2(V) chain preproprotein", "refseq_ac": [ { "id": "NP_000384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000384", "type": "external" } ], "gene_names_uniprotkb": "COL5A2", "gene_names_refseq": "COL5A2; EDSCL2; EDSC", "protein_names_uniprotkb": "Collagen alpha-2(V) chain", "protein_names_refseq": "AB collagen; collagen alpha-2(V) chain preproprotein; collagen alpha-2(V) chain; collagen, fetal membrane, A polypeptide; type V preprocollagen alpha 2 chain", "tax_id": 9606, "disease": "Ehlers-Danlos syndrome classic type 2 (Disease Ontology:DOID:0080726); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); Ehlers-Danlos syndrome (Disease Ontology:DOID:13359); Ehlers-Danlos syndrome classic type 1 (Disease Ontology:DOID:14720); lung disease (Disease Ontology:DOID:850)", "pathway": " (hsa:1290); (R-HSA-1442490); (R-HSA-1566977); (R-HSA-1650814); (R-HSA-186797); (R-HSA-2022090); (R-HSA-216083); (R-HSA-3000170); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-419037); (R-HSA-8874081); (R-HSA-8948216); (R-HSA-9638630); (R-HSA-9925563)", "pathway_count": 15, "publication_count": 286, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10022829;10049780;10209034;10339611;10366422;10438935;10479448;10508235;10521801;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11084047;11119712;11158588;11237011;11259413;11518510;11566270;11572855;11577169;11713259;11739641;11847221;11927537;11940702;11980922;12225811;12369853;12473679;12475640;12482924;12496264;12538485;12579531;12585966;12646579;12682293;12765789;12807887;12975610;1311092;1323838;1376317;1400327;14500733;14602708;14681059;14715956;14976204;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15479743;15615512;1571108;15713743;15767546;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16267048;16293224;16331269;1639841;16436588;16474853;16493581;16591531;16731529;16754661;16782899;16806867;16825197;16933105;16945929;1704217;17088321;171650;17314405;17339034;17367763;17574028;17588949;17604334;17943726;17968485;18059411;1820205;18487197;18559524;18622425;18710925;18775695;19075007;19502598;19564526;19693541;20033473;2005102;2010551;2045422;20470363;2059554;20690820;20705068;20802513;20813817;21081667;21251937;21376233;21593211;21642437;2169335;21757687;21789315;21878990;21935455;21967573;22132895;22134916;22241472;22382088;2253219;22539938;22884367;22933705;2307289;23090970;23374253;23583652;23584533;2364322;2411731;2412224;24190977;2420006;2430969;24480479;25328409;2537292;2543975;2548603;2551898;25597754;26154972;27656288;2809592;2834383;28435517;2845110;29093181;29137923;2914927;29263244;29408302;29557506;2963012;29741879;2985598;29964125;3029669;3038863;30389923;30459171;31085175;3173483;31844290;3223920;3224983;32387766;32488085;32938616;33592498;33739392;33974636;34087483;35051231;35318648;35964930;36241641;37074911;37082997;38253038;3858826;38665916;3872795;3905801;3938630;39894887;6193777;6258630;6270089;6307276;6439184;6643500;6694361;6809411;710450;7499434;7505120;7509446;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7852349;7890717;8002934;8054685;8118028;8181482;8207089;8262246;8344274;8440685;8463259;8560266;8576151;8609172;8798654;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9115237;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9417118;9425231;9443892;9545296;9560306;9565552;9582318;9651395;9659899;9659900;9685393;9739761;9783710;9856810;9858236;9949188", "class_list": "", "function": "Collagen type V alpha 2 promotes the development of gastric cancer via M2 macrophage polarization., [RefSeq, PubMed]; High expression of COL5A2, a member of COL5 family, indicates the poor survival and facilitates cell migration in gastric cancer., [RefSeq, PubMed]; Phenotype of COL3A1/COL5A2 deletion patients., [RefSeq, PubMed]; Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]., [RefSeq]; Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity)., [UniProtKB]", "predicted_glycosites": 13, "predicted_n_glycosites": 0, "predicted_o_glycosites": 13, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 65, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 5, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "P78440;Q13908;Q53WR4;Q59GR4;Q6LDJ5;Q7KZ55;Q86XF6;Q96QB0;Q96QB3", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0046332 SMAD binding;GO:0030020 extracellular matrix structural constituent conferring tensile strength;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005588 collagen type V trimer;GO:0005583 fibrillar collagen trimer", "go_biological_process": "GO:0030199 collagen fibril organization;GO:0043588 skin development;GO:0048592 eye morphogenesis;GO:1903225 negative regulation of endodermal cell differentiation;GO:0048513 animal organ development", "synthesized_glycan_count": 0, "hit_score": 30.7, "record_id": "P05997-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95741-1", "uniprot_id": [ { "id": "CPNE6_HUMAN", "url": "https://www.uniprot.org/uniprot/O95741", "type": "external" } ], "mass": 61991.0, "length": 557, "protein_name": "Copine-6", "gene_name": "CPNE6", "organism": "Human", "refseq_name": "copine-6 isoform 1", "refseq_ac": [ { "id": "NP_001267487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001267487", "type": "external" } ], "gene_names_uniprotkb": "CPNE6", "gene_names_refseq": "CPNE6; copine-6", "protein_names_uniprotkb": "Copine-6; Copine VI; N-copine; Neuronal-copine", "protein_names_refseq": "N-copine; copine VI (neuronal); copine-6 isoform 1", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); transitional cell carcinoma (Disease Ontology:DOID:2671); gallbladder adenocarcinoma (Disease Ontology:DOID:3500); cervical cancer (Disease Ontology:DOID:4362); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:9362); (R-HSA-1483206)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10403379;11237011;1168700;12044471;12440769;12949241;15939762;22284826;23999003;24338473;25002142;26723968;26755581;28228285;28832583;29242379;29331515;29557506;29802203;31844290;32938616;33968037;9430674;9645480", "class_list": "", "function": "Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Binds phospholipid membranes in a calcium-dependent manner (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, PubMed, UniProtKB]; Expression of CPNE6 increased remarkably in brains of epileptic patients and in experimental epileptic rats. Expression is mainly in neurons., [RefSeq, PubMed]; This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013]., [RefSeq]; We identify copine-6 as a specific regulator of spontaneous neurotransmission, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAG6;B7Z1M3;D3DS55;F5GXN1;Q53HA6;Q8WVG1", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0001786 phosphatidylserine binding;GO:0043495 protein-membrane adaptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0030154 cell differentiation;GO:0046474 glycerophospholipid biosynthetic process;GO:0071277 cellular response to calcium ion;GO:0098974 postsynaptic actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "O95741-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99439-1", "uniprot_id": [ { "id": "CNN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99439", "type": "external" } ], "mass": 33697.0, "length": 309, "protein_name": "Calponin-2", "gene_name": "CNN2", "organism": "Human", "refseq_name": "calponin-2 isoform c", "refseq_ac": [ { "id": "NP_001290428", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290428", "type": "external" } ], "gene_names_uniprotkb": "CNN2", "gene_names_refseq": "CNN2", "protein_names_uniprotkb": "Calponin-2; Calponin H2, smooth muscle; Neutral calponin", "protein_names_refseq": "calponin H2, smooth muscle; calponin-2 isoform c; neutral calponin", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); major depressive disorder (Disease Ontology:DOID:1470); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:1265); (R-HSA-6798695); (R-HSA-8950505)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12665801;15592455;16038020;17377532;18083107;18212344;18991276;19608861;23186163;23301498;23481700;23650620;24190977;24366607;24715725;25576301;25645385;25892735;26154972;26992070;27397612;27655845;27846572;27920218;28218747;28228285;28446606;28510447;28714360;28832583;28904123;29242379;29314611;29333089;29393594;29437277;29493099;29557506;29632046;29769354;29786170;29789417;30192525;31217245;31844290;32157095;32387766;32938616;33043033;33298915;33592498;33691108;33912179;33936100;34019948;34133238;34171305;34217487;34357683;34725712;35051231;35132862;35154160;35561310;35580925;35705054;36010968;36241641;36284347;36580660;37751293;38665916;40307207;40596516;40914422;8692836;8889829;9001224;9634482", "class_list": "", "function": "A rapid degradation of calponin 2 is required for cytokinesis., [RefSeq, PubMed]; Calponin 2 regulates ketogenesis to mitigate acute kidney injury. Publication Status: Online-Only, [RefSeq, PubMed]; Our results demonstrated that knockdown of endogenous CNN2 in AGS cells could significantly activate cell apoptosis pathway and therefore suppress cell growth in vitro. The deletion of CNN2 might be a potential therapeutic approach to inhibit aggressive growth of gastric cancer., [RefSeq, PubMed]; Serum calponin 2 is a novel biomarker of tubal ectopic pregnancy., [RefSeq, PubMed]; Study in human hepatocellular carcinoma cell line and xenograft mouse model shows that CNN2 plays an important role in tumor growth and metastasis, possibly through MEK1/2-ERK1/2 signaling pathway. Erratum:[Int J Med Sci. 2025 May 15;22(11):2594-2595. doi: 10.7150/ijms.114964. PMID: 40520907] Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]., [RefSeq]; Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A5D8U8;A6NFI4;D6W5X9;Q92578", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005516 calmodulin binding;GO:0051015 actin filament binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005856 cytoskeleton;GO:0005911 cell-cell junction;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007015 actin filament organization;GO:0007010 cytoskeleton organization;GO:0031032 actomyosin structure organization;GO:0071260 cellular response to mechanical stimulus;GO:0032970 regulation of actin filament-based process", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q99439-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5K1-1", "uniprot_id": [ { "id": "CISD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5K1", "type": "external" } ], "mass": 15278.0, "length": 135, "protein_name": "CDGSH iron-sulfur domain-containing protein 2", "gene_name": "CISD2", "organism": "Human", "refseq_name": "CDGSH iron-sulfur domain-containing protein 2", "refseq_ac": [ { "id": "NP_001008389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008389", "type": "external" } ], "gene_names_uniprotkb": "CISD2; CDGSH2; ERIS; ZCD2", "gene_names_refseq": "CISD2; ERIS; Miner1; NAF-1; WFS2; ZCD2", "protein_names_uniprotkb": "CDGSH iron-sulfur domain-containing protein 2; Endoplasmic reticulum intermembrane small protein; Miner1; MitoNEET-related 1 protein; NAF-1; Nutrient-deprivation autophagy factor-1", "protein_names_refseq": "CDGSH iron-sulfur domain-containing protein 2; endoplasmic reticulum intermembrane small protein; mitoNEET-related 1 protein; nutrient-deprivation autophagy factor-1; zinc finger, CDGSH-type domain 2", "tax_id": 9606, "disease": "Wolfram syndrome 2 (Disease Ontology:DOID:0110630)", "pathway": " (hsa:493856)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;14724730;17376863;17846994;19580816;20010695;20068231;25418920;26154972;26811146;27452731;27920218;28063628;28832583;28904123;29393594;29557506;29632046;31611695;31844290;32350084;32387766;32870666;33968037;34357683;34509645;35051231;35251023;37249759;37938771;38678819;38814213;38991271;39010730", "class_list": "", "function": "A preliminary study unveils CISD2 as a ferroptosis-related therapeutic target for recurrent spontaneous abortion through immunological analysis and two-sample mendelian randomization., [RefSeq, PubMed]; CISD2 downregulation participates in the ferroptosis process of human ovarian SKOV-3 cells through modulating the wild type p53-mediated GLS2/SAT1/SLC7A11 and Gpx4/TRF signaling pathway., [RefSeq, PubMed]; CISD2 promotes lung squamous carcinoma cell migration and invasion via the TGF-beta1-induced Smad2/3 signaling pathway., [RefSeq, PubMed]; CISD2 regulates oxidative stress and mitophagy to maintain the balance of the follicular microenvironment in PCOS., [RefSeq, PubMed]; Novel mutation, new phenotypic variant with no diabetes insipidus, presence of peptic ulcer disease, platelet aggregation defect, [RefSeq, PubMed]; Overexpression of CISD2 alleviates septic acute kidney injury via activating Sonic Hedgehog signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z3D5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0051537 2 iron, 2 sulfur cluster binding", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0097038 perinuclear endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0010506 regulation of autophagy;GO:0000422 autophagy of mitochondrion;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q8N5K1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUI8-1", "uniprot_id": [ { "id": "CRLF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUI8", "type": "external" } ], "mass": 49766.0, "length": 442, "protein_name": "Cytokine receptor-like factor 3", "gene_name": "CRLF3", "organism": "Human", "refseq_name": "cytokine receptor-like factor 3", "refseq_ac": [ { "id": "NP_057070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057070", "type": "external" } ], "gene_names_uniprotkb": "CRLF3; CREME9; CRLM9; CYTOR4; P48", "gene_names_refseq": "CREME-9; CREME9; CRLF3; CRLM9; CYTOR4; FRWS; p48.2", "protein_names_uniprotkb": "Cytokine receptor-like factor 3; CREME-9; Cytokine receptor-like molecule 9; Cytokine receptor-related protein 4; Type I cytokine receptor-like factor p48", "protein_names_refseq": "cytokine receptor-like factor 3; cytokine receptor-like molecule 9; cytokine receptor-related protein 4; type I cytokine receptor-like factor p48", "tax_id": 9606, "disease": "", "pathway": " (hsa:51379)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16865251;19427400;20112406;228748;23301498;23481700;24714562;24715725;25418920;25576301;25880248;26154972;26728094;26754738;26992070;27397612;27600516;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29632711;29786170;30315122;30410026;30429286;30779550;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34233200;34357683;34405274;34509645;35051231;35561310;35580925;36010968;36241641;36284347;37217939;37712888;40596516;40914422", "class_list": "", "function": "A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells., [RefSeq, PubMed]; May play a role in the negative regulation of cell cycle progression., [UniProtKB, PubMed]; P48.2 may represent a novel type of intracellular protein functioning as a negative regulator at the G0/G1 phase., [RefSeq, PubMed]; Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis., [RefSeq, PubMed]; Suggests that the homologous rat protein is involved in neuronal morphology regulation., [RefSeq, PubMed]; This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NJF3;B2R8C3;Q2MLY7;Q9UNI3;Q9Y6M8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0030308 negative regulation of cell growth;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT;GO:2000134 negative regulation of G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q8IUI8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUR7-1", "uniprot_id": [ { "id": "CO040_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUR7", "type": "external" } ], "mass": 16353.0, "length": 153, "protein_name": "UPF0235 protein C15orf40", "gene_name": "C15orf40", "organism": "Human", "refseq_name": "UPF0235 protein C15orf40 isoform d", "refseq_ac": [ { "id": "NP_001153587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153587", "type": "external" } ], "gene_names_uniprotkb": "C15orf40", "gene_names_refseq": "C15orf40", "protein_names_uniprotkb": "UPF0235 protein C15orf40", "protein_names_refseq": "UPF0235 protein C15orf40 isoform d; UPF0235 protein C15orf40", "tax_id": 9606, "disease": "", "pathway": " (hsa:123207)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;18669648;20068231;20305658;23033978;23186163;25576301;28228285;28832583;28904123;29557506;30315122;30379171;31154438;31844290;32157095;32350084;32357974;33537174;33912179;33936100;33968037;33981976;34185709;35051231;35251023;35580925;37217939;40596516", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NIC9;B2R5E7;F5GX92;F8WD31;G5EA00", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8WUR7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92523-1", "uniprot_id": [ { "id": "CPT1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92523", "type": "external" } ], "mass": 87801.0, "length": 772, "protein_name": "Carnitine O-palmitoyltransferase 1, muscle isoform", "gene_name": "CPT1B", "organism": "Human", "refseq_name": "carnitine O-palmitoyltransferase 1, muscle isoform isoform c", "refseq_ac": [ { "id": "NP_001138606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138606", "type": "external" } ], "gene_names_uniprotkb": "CPT1B; KIAA1670", "gene_names_refseq": "CPT1-M; CPT1B; CPT1M; CPTI-M; CPTI; M-CPT1; MCCPT1; MCPT1", "protein_names_uniprotkb": "Carnitine O-palmitoyltransferase 1, muscle isoform; 2.3.1.21; CPT I; CPT1-M; CPTI-M; Carnitine O-palmitoyltransferase I, muscle isoform; Carnitine palmitoyltransferase 1B; Carnitine palmitoyltransferase I-like protein", "protein_names_refseq": "carnitine O-palmitoyltransferase 1, muscle isoform isoform c; carnitine O-palmitoyltransferase 1B; carnitine palmitoyltransferase 1B (muscle); carnitine palmitoyltransferase I-like protein", "tax_id": 9606, "disease": "immunodeficiency 108 (Disease Ontology:DOID:0061077)", "pathway": " (hsa:1375); (R-HSA-200425)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10559218;10677481;11237011;11258795;11356169;11790793;12015320;14517221;14711372;15060529;17223360;18477386;18556348;20233797;20457939;20538056;22123817;22871568;24277613;25892735;26375851;26828774;28904123;29557506;30429286;31154438;32157095;32350084;32983136;35051231;38042031;38183920;38383657;7711730;8679700;9048718;9070950;9099716;9199240;9224698;9344464;9399886;9685390;9691089;9706223", "class_list": "", "function": "ABHD5-CPT1B: An Important Way of Regulating Placental Lipid Metabolism in Gestational Diabetes Mellitus., [RefSeq, PubMed]; Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion., [UniProtKB, UniProtKB]; Genetic analysis, comparison, and tissue distribution of CPT1b, [RefSeq, PubMed]; Integrating artificial intelligence in osteosarcoma prognosis: the prognostic significance of SERPINE2 and CPT1B biomarkers. Publication Status: Online-Only, [RefSeq, PubMed]; The influence of serum selenium in differential epigenetic and transcriptional regulation of CPT1B gene in women with obesity., [RefSeq, PubMed]; The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z4U4;B7Z5T8;E9PCP2;Q13389;Q99655;Q9BY90", "ec_number_list": [ { "id": "2.3.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.21", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0004095 carnitine O-palmitoyltransferase activity;GO:0003824 catalytic activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0006635 fatty acid beta-oxidation;GO:0006853 carnitine shuttle;GO:0015909 long-chain fatty acid transport;GO:0009437 carnitine metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q92523-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P83436-1", "uniprot_id": [ { "id": "COG7_HUMAN", "url": "https://www.uniprot.org/uniprot/P83436", "type": "external" } ], "mass": 86344.0, "length": 770, "protein_name": "Conserved oligomeric Golgi complex subunit 7", "gene_name": "COG7", "organism": "Human", "refseq_name": "conserved oligomeric Golgi complex subunit 7", "refseq_ac": [ { "id": "NP_705831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_705831", "type": "external" } ], "gene_names_uniprotkb": "COG7; PRO10013", "gene_names_refseq": "CDG2E; COG7", "protein_names_uniprotkb": "Conserved oligomeric Golgi complex subunit 7; COG complex subunit 7; Component of oligomeric Golgi complex 7", "protein_names_refseq": "COG complex subunit 7; conserved oligomeric Golgi complex subunit 7", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIe (Disease Ontology:DOID:0070257); genetic disease (Disease Ontology:DOID:630)", "pathway": " (hsa:91949); (R-HSA-6807878); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 4, "publication_count": 245, "publication_id_list": "10052452;10189370;10209123;10318838;10445031;10559959;10637310;10652308;10652516;10679020;10761932;10865125;10903204;10921873;10990452;11035033;11172815;11237011;11285137;11303027;11306556;11346801;11359012;11461920;11689439;11689559;11703931;11718716;11726511;11748249;11827983;11839770;11980916;12011112;12047556;12070132;12377769;12383348;12388752;12429822;12620188;12620189;12634853;12975309;14580338;14654841;14718928;14742712;15029241;15037235;15077113;15077114;15107842;15128430;15269279;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16129887;1631136;16571679;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17253781;17274799;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18086915;18182008;18195106;18243103;18256213;18283113;18367545;18451304;18524849;18664496;18669648;18691976;18809720;18946081;1898986;19015319;19109418;19164740;19296914;19490898;19536132;1957170;19620288;19631211;19715559;19758564;20163571;20357002;20427317;20637885;20685960;20874812;21183348;21219331;21421921;21436057;21689688;21807881;21844168;22013193;22094269;22188167;22304919;22335553;22354037;22581368;22717455;23091056;23239882;23378023;23437303;23462996;23481700;23839779;23936529;23940353;24119662;24715725;24794632;24806965;25343031;25436559;25492864;25576301;25645385;25708460;25892735;26154972;26992070;27846572;27862975;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29467253;29508533;29557506;29632711;29769354;29786170;30059200;30315122;30410026;30429286;30620550;30779550;30833945;31154438;31217245;31222486;31530632;31844290;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34087483;34211107;35051231;35251023;35580925;36284347;40914422;7691276;7909812;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8670882;8945478;8991093;9050864;9114004;9150144;9177194;9230071;9244307;9288971;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "glycogene", "function": "Required for normal Golgi function., [UniProtKB, PubMed]; TMEM-COG4, COG7 and COG8 subunits restore endogenous COG localization to the Golgi membranes, [RefSeq, PubMed]; The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 904, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6UWU7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0032588 trans-Golgi network membrane;GO:0017119 Golgi transport complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0009101 glycoprotein biosynthetic process;GO:0050821 protein stabilization;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0033365 protein localization to organelle", "synthesized_glycan_count": 0, "hit_score": 24.8, "record_id": "P83436-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34998-2", "uniprot_id": [ { "id": "CRHR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P34998", "type": "external" } ], "mass": 47671.0, "length": 415, "protein_name": "Corticotropin-releasing hormone receptor 1", "gene_name": "CRHR1", "organism": "Human", "refseq_name": "corticotropin-releasing factor receptor 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001138618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138618", "type": "external" } ], "gene_names_uniprotkb": "CRHR1; CRFR1; CRFR; CRHR", "gene_names_refseq": "CRF-R-1; CRF-R1; CRF-R; CRF1; CRFR-1; CRFR1; CRH-R-1; CRH-R1; CRHR1L; CRHR1; CRHR", "protein_names_uniprotkb": "Corticotropin-releasing hormone receptor 1; CRF-R-1; CRF-R1; CRFR-1; CRH-R-1; CRH-R1; Corticotropin-releasing factor receptor 1", "protein_names_refseq": "corticotropin-releasing factor receptor 1 isoform 1 precursor; corticotropin-releasing factor type 1 receptor; seven transmembrane helix receptor", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); left ventricular failure (Disease Ontology:DOID:0051064); hypertension (Disease Ontology:DOID:10763); thromboangiitis obliterans (Disease Ontology:DOID:12918); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); functional colonic disease (Disease Ontology:DOID:3877); rhinitis (Disease Ontology:DOID:4483); type 2 diabetes mellitus (Disease Ontology:DOID:9352); irritable bowel syndrome (Disease Ontology:DOID:9778); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:104909134); (hsa:1394); (R-HSA-373080); (R-HSA-418555)", "pathway_count": 4, "publication_count": 89, "publication_id_list": "10097073;10598591;11007482;11297558;11425856;11595658;12036966;12058044;12098667;12106601;12180353;12559132;12860470;13549488;14657255;14671004;1517224;15498814;15765929;15769620;15951850;16313925;16602827;16687412;16923326;17168849;18044684;18292205;18577758;18801728;19054851;19105585;19876791;19929708;20381629;20843795;20966082;21036126;21123435;2163110;23576434;23863939;2417744;24290358;24687066;2491850;2553411;2553705;26417854;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32004469;32004470;32226383;32497535;32540603;32618402;32715661;33049737;3616618;6085243;6950381;7692441;7797535;7811272;8082781;8198617;8243652;8340388;8386612;8397094;8514797;8557170;8612563;8672451;8732687;8770894;8906787;9064337;9263355;9417641;9651336;9757017", "class_list": "", "function": "Does not bind to CRH with high affinity., [UniProtKB, PubMed]; G protein-coupled receptor for CRH and UCN stress hormones, which plays a central role in whole body adaptation to stress (PubMed:18292205, PubMed:18801728, PubMed:20966082, PubMed:23576434, PubMed:23863939, PubMed:24290358, PubMed:32004469, PubMed:32004470). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and downstream effectors, such as adenylate cyclase (PubMed:18292205, PubMed:32004469, PubMed:32004470). CRHR1 is mainly coupled to G(s) G protein (GNAS), mediating activation of adenylate cyclase activity and production of cAMP (PubMed:18292205, PubMed:32004469, PubMed:32004470). In some conditions, can also couple to G(q) G protein (GNAQ) and mediate production of diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers (PubMed:14657255). CRHR1-dependent signaling is a primary mediator of the neuroendocrine, autonomic (fight-or-flight) and behavioral responses to stress, acting as a key regulator of adaptation by activating the hypothalamus-pituitary-adrenal axis, leading to corticotropin hormone (ACTH) production (By similarity). Mediates both anxiogenic and anxiolytic response to stress in glutamatergic and dopaminergic neurons, respectively (By similarity). CRHR1 also plays a critical role in addiction by mediating the brain's stress response, particularly during withdrawal and relapse: it drives the transition to compulsive drug seeking by increasing anxiety and negative emotional states (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; These findings define the expression of enterochromaffin cell-specific CRH(1) isoforms and activation of CRH(1)-dependent pathways leading to serotonin release and synthesis., [RefSeq, PubMed]; This gene encodes a G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response and obesity. Alternative splicing results in multiple transcript variants. Naturally-occurring readthrough transcription between this gene and upstream GeneID:147081 results in transcripts that encode isoforms that share similarity with the products of this gene. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 5, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DIE9;Q13008;Q4QRJ1;Q9UK64", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008528 G protein-coupled peptide receptor activity;GO:0015056 corticotrophin-releasing factor receptor activity;GO:0051424 corticotropin-releasing hormone binding;GO:0043404 corticotropin-releasing hormone receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007190 activation of adenylate cyclase activity;GO:0007565 female pregnancy", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P34998-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFW1-1", "uniprot_id": [ { "id": "COMA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFW1", "type": "external" } ], "mass": 161145.0, "length": 1626, "protein_name": "Collagen alpha-1(XXII) chain", "gene_name": "COL22A1", "organism": "Human", "refseq_name": "collagen alpha-1(XXII) chain precursor", "refseq_ac": [ { "id": "NP_690848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690848", "type": "external" } ], "gene_names_uniprotkb": "COL22A1", "gene_names_refseq": "COL22A1", "protein_names_uniprotkb": "Collagen alpha-1(XXII) chain", "protein_names_refseq": "collagen alpha-1(XXII) chain precursor; collagen alpha-1(XXII) chain", "tax_id": 9606, "disease": "intracranial aneurysm (Disease Ontology:DOID:10941)", "pathway": " (hsa:169044); (R-HSA-1650814); (R-HSA-8948216)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10479448;10934207;11237011;12473679;12475640;12646579;1323838;14500733;15016833;15044469;1577494;16591531;171650;18487197;19075007;19693541;20222955;20470363;21878990;21967573;22645359;2543975;25645385;25892735;28649982;29557506;29786170;30410026;30459171;30541770;30678304;31154438;31217245;31530632;3173483;31844290;32983136;33166209;34561969;35051231;36612834;38253038;3905801;3938630;6307276;6809411;710450;9054364;9545296;9560306;9582318", "class_list": "", "function": "Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts., [UniProtKB]; Are COL22A1 Gene Polymorphisms rs11784270 and rs6577958 Associated with Susceptibility to a Non-Contact Anterior Cruciate Ligament Injury in Polish Athletes? Publication Status: Online-Only, [RefSeq, PubMed]; Association between serum creatinine level and polymorphisms in the collagen type XXII alpha 1 (COL22A1) gene, on chromosome 8, and in the synaptotagmin-1 (SYT1) gene, on chromosome 12 GeneRIF: Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; COL22A1 is required to maintain vascular integrity. These data further suggest that mutations in COL22A1 could be one of the risk factors for intracranial aneurysms in humans. Publication Status: Online-Only, [RefSeq, PubMed]; COL22A1 mediates fibroblast to myofibroblast transition in systemic sclerosis. Silencing of COL22A1 significantly reduced TGFbeta-induced ACTA2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Collagen XXII is the first specific extracellular matrix protein present only at tissue junctions, [RefSeq, PubMed]; EQTL variants in COL22A1 are associated with muscle injury in athletes., [RefSeq, PubMed]; This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 1, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 77, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B7ZMH0;C9K0G4;Q8IVT9", "ec_number_list": [], "go_molecular_function": "GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0005604 basement membrane;GO:1990321 collagen type XXII trimer", "go_biological_process": "GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q8NFW1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95628-1", "uniprot_id": [ { "id": "CNOT4_HUMAN", "url": "https://www.uniprot.org/uniprot/O95628", "type": "external" } ], "mass": 63510.0, "length": 575, "protein_name": "CCR4-NOT transcription complex subunit 4", "gene_name": "CNOT4", "organism": "Human", "refseq_name": "CCR4-NOT transcription complex subunit 4 isoform b", "refseq_ac": [ { "id": "NP_001008226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008226", "type": "external" } ], "gene_names_uniprotkb": "CNOT4; NOT4", "gene_names_refseq": "CLONE243; CNOT4; NOT4H; NOT4", "protein_names_uniprotkb": "CCR4-NOT transcription complex subunit 4; 2.3.2.27; CCR4-associated factor 4; E3 ubiquitin-protein ligase CNOT4; Potential transcriptional repressor NOT4Hp; RING-type E3 ubiquitin transferase CNOT4", "protein_names_refseq": "CCR4-NOT transcription complex subunit 4 isoform b; CCR4-associated factor 4; E3 ubiquitin-protein ligase CNOT4; NOT4 (negative regulator of transcription 4, yeast) homolog; RING-type E3 ubiquitin transferase CNOT4; potential transcriptional repressor NOT4Hp", "tax_id": 9606, "disease": "heart disease (Disease Ontology:DOID:114)", "pathway": " (hsa:4850); (R-HSA-429947); (R-HSA-6804115); (R-HSA-9820841)", "pathway_count": 4, "publication_count": 113, "publication_id_list": "10637334;10882133;11087754;11237011;11283721;11814693;11823428;11889047;11896574;12897130;1355481;14583602;14749774;14968113;15001359;15475613;15713436;16140933;16141059;16160013;16284618;17052452;17146433;17245413;17525332;17595167;18337750;18625844;18669648;19239894;19276069;19558367;19690332;20068231;20352051;20531387;22159038;22252318;23186163;23236473;23481700;24129315;25480299;25505266;25645385;26575292;26992070;27543614;28228285;28514659;28657654;28832583;28904123;29237092;29242379;29351928;29557506;29861391;30059200;30315122;30379171;30429286;30620550;31092671;31154438;31217245;31373491;31492838;31844290;32157095;32357974;32387766;32502391;32574038;32897882;32938616;32938750;32983136;33034149;33214551;33298915;33451139;33592498;33592572;33717175;33912179;33968037;33981976;34019948;34171305;34185709;34509645;34626022;34647228;34846842;35051231;35132862;35254053;35289036;35513511;35580925;36010968;37074911;37493105;37541260;38665916;39531497;39534244;8944033;9099687;9184226;9671765;9712883", "class_list": "", "function": "Aberrant expression of MYD88 via RNA-controlling CNOT4 and EXOSC3 in colonic mucosa impacts generation of colonic cancer., [RefSeq, PubMed]; CNOT4 enhances the efficacy of anti-PD-1 immunotherapy in a model of non-small cell lung cancer., [RefSeq, PubMed]; CNOT4 suppresses non-small cell lung cancer progression and is required for effector cytolytic T lymphocytes cell responses to lung cancer cells., [RefSeq, PubMed]; CNOT4 suppresses nonsmall cell lung cancer progression by promoting the degradation of PAF1., [RefSeq, PubMed]; Data show that binding of the CNOT4 RING finger to the ubiquitin-conjugating enzyme (E2) UbcH5B is highly selective, [RefSeq, PubMed]; Has E3 ubiquitin ligase activity, promoting ubiquitination and degradation of target proteins (PubMed:11823428, PubMed:22159038, PubMed:26575292). Involved in activation of the JAK/STAT pathway (PubMed:11823428, PubMed:22159038). Catalyzes ubiquitination of methylated RBM15 (PubMed:26575292). Plays a role in quality control of translation of mitochondrial outer membrane-localized mRNA (PubMed:29861391). As part of the PINK1-regulated signaling, upon mitochondria damage, ubiquitinates ABCE1 and thereby recruits autophagy receptors to the mitochondrial outer membrane to initiate mitophagy (PubMed:29861391)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Has E3 ubiquitin ligase activity, promoting ubiquitination and degradation of target proteins. Involved in activation of the JAK/STAT pathway. Catalyzes ubiquitination of methylated RBM15. Plays a role in quality control of translation of mitochondrial outer membrane-localized mRNA. As part of the PINK1-regulated signaling, upon mitochondria damage, ubiquitinates ABCE1 and thereby recruits autophagy receptors to the mitochondrial outer membrane to initiate mitophagy., [UniProtKB, UniProtKB, UniProtKB]; The Interplay between HGF/c-met Axis and Nox4 in BRAF Mutated Melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 1, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6I4;E7ET38;F8VQP3;O95339;O95627;Q8IYM7;Q8NCL0;Q9NPQ1;Q9NZN6", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0030014 CCR4-NOT complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0045652 regulation of megakaryocyte differentiation;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0051865 protein autoubiquitination;GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "O95628-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P9H4-1", "uniprot_id": [ { "id": "CNKR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P9H4", "type": "external" } ], "mass": 61904.0, "length": 555, "protein_name": "Connector enhancer of kinase suppressor of ras 3", "gene_name": "CNKSR3", "organism": "Human", "refseq_name": "connector enhancer of kinase suppressor of ras 3 isoform 2", "refseq_ac": [ { "id": "NP_775786", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775786", "type": "external" } ], "gene_names_uniprotkb": "CNKSR3; MAGI1", "gene_names_refseq": "CNK3/IPCEF1; CNK3; CNKSR3; MAGI1", "protein_names_uniprotkb": "Connector enhancer of kinase suppressor of ras 3; CNK homolog protein 3; CNK3; CNKSR family member 3; Connector enhancer of KSR 3; Maguin-like protein", "protein_names_refseq": "CNK homolog protein 3; connector enhancer of KSR 3; connector enhancer of kinase suppressor of ras 3 isoform 2; connector enhancer of kinase suppressor of ras 3; maguin-like protein; membrane associated guanylate kinase, WW and PDZ domain containing 1; membrane-associated guanylate kinase-interacting protein-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:154043)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;18491316;19413330;19567370;22085542;22457146;22851176;23186163;23357503;26992070;28401168;29557506;30019650;33592498", "class_list": "", "function": "CNK3 and IPCEF1 produce a single protein that is required for HGF dependent Arf6 activation and migration., [RefSeq, PubMed]; CNKSR3, a homologue of scaffold proteins involved in MAPK pathway regulation, is a direct target of MR and is required for the maintenance of transepithelial sodium transport in the kidney., [RefSeq, PubMed]; Cox regression and Kaplan-Meier survival analysis identified that amplification of the CNKSR3 gene (log-rank, P = 0.022) with an associated increase in its protein expression (log-rank, P = 0.011) correlated with longer patient survival., [RefSeq, PubMed]; Involved in transepithelial sodium transport. Regulates aldosterone-induced and epithelial sodium channel (ENaC)-mediated sodium transport through regulation of ENaC cell surface expression. Acts as a scaffold protein coordinating the assembly of an ENaC-regulatory complex (ERC)., [UniProtKB, PubMed]; SCAF8-CNKSR3 variant rs955333 was not associated with diabetic kidney disease but showed association with diabetic retinopathy in Chinese type 2 diabetes patients, [RefSeq, PubMed]; Significance of miR-15a-5p and CNKSR3 as Novel Prognostic Biomarkers in Non-Small Cell Lung Cancer, [RefSeq, PubMed]; Two gene markers (CNKSR3 and SPTBN2) differentiate between aspirin-exacerbated respiratory disease and aspirin-tolerant asthma with a perfect discriminative power, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9IZX4;Q5SGD5;Q96N65", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016324 apical plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0010765 positive regulation of sodium ion transport;GO:0033137 negative regulation of peptidyl-serine phosphorylation;GO:0007167 enzyme-linked receptor protein signaling pathway;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q6P9H4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GX8-1", "uniprot_id": [ { "id": "CP074_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GX8", "type": "external" } ], "mass": 8118.0, "length": 76, "protein_name": "Uncharacterized protein C16orf74", "gene_name": "C16orf74; CLMB", "organism": "Human", "refseq_name": "uncharacterized protein C16orf74", "refseq_ac": [ { "id": "NP_996850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996850", "type": "external" } ], "gene_names_uniprotkb": "C16orf74; CLMB", "gene_names_refseq": "ASRA; C16orf74; CLMB; MICT1", "protein_names_uniprotkb": "Uncharacterized protein C16orf74", "protein_names_refseq": "adipose-secreted regulator of appetite; hypothetical protein 1; hypothetical protein 2; hypothetical protein 3; microprotein for thermogenesis 1; uncharacterized protein C16orf74", "tax_id": 9606, "disease": "", "pathway": " (hsa:404550)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;18669648;20068231;21203532;28881575;31597713;32314545", "class_list": "", "function": "C16orf74 expression level represents a potentially useful marker for predicting progression in primary non-muscle invasive bladder cancer patients Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA HAND2-AS1 represses cervical cancer progression by interaction with transcription factor E2F4 at the promoter of C16orf74., [RefSeq, PubMed]; Role of Dimerized C16orf74 in Aggressive Pancreatic Cancer: A Novel Therapeutic Target., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "R4GN89", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96GX8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NMZ7-1", "uniprot_id": [ { "id": "CO6A6_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NMZ7", "type": "external" } ], "mass": 247173.0, "length": 2263, "protein_name": "Collagen alpha-6(VI) chain", "gene_name": "COL6A6", "organism": "Human", "refseq_name": "collagen alpha-6(VI) chain precursor", "refseq_ac": [ { "id": "NP_001096078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096078", "type": "external" } ], "gene_names_uniprotkb": "COL6A6", "gene_names_refseq": "COL6A6", "protein_names_uniprotkb": "Collagen alpha-6(VI) chain", "protein_names_refseq": "collagen alpha-6(VI) chain precursor; collagen, type VI, alpha 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:131873); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-186797); (R-HSA-2022090); (R-HSA-216083); (R-HSA-3000178); (R-HSA-419037); (R-HSA-8948216)", "pathway_count": 9, "publication_count": 242, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10049780;10209034;10339611;10366422;10438935;10479448;10508235;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11084047;11119712;11158588;11237011;11259413;11518510;11572855;11577169;11713259;11927537;11980922;12225811;12369853;12473679;12475640;12482924;12496264;12538485;12579531;12585966;12646579;12682293;12765789;12807887;1311092;1323838;1376317;1400327;14500733;14602708;14715956;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15615512;15713743;15767546;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16267048;16293224;16331269;1639841;16436588;16474853;16493581;16591531;16731529;16754661;16825197;16933105;1704217;17088321;171650;17339034;17367763;17588949;17604334;17943726;17968485;18059411;18276594;18400749;18487197;18559524;18622425;18710925;18775695;19075007;19159218;19502598;19564526;19693541;20033473;2005102;2010551;20470363;2059554;20705068;20813817;20882040;21251937;21376233;21406227;21593211;21642437;2169335;21789315;21878990;21935455;21967573;22134916;22226732;22241472;22382088;2253219;22539938;22884367;22933705;2307289;23374253;23481700;23583652;2364322;2412224;2420006;2430969;24715725;25328409;2537292;2543975;2548603;2551898;25597754;2809592;28125976;2834383;28435517;2845110;28832583;29093181;29137923;29242379;29263244;29408302;29557506;29741879;29964125;3038863;30389923;30577800;31085175;31092671;31217245;3173483;32157095;3223920;32488085;33968037;34078123;35051231;35333290;36284347;37074911;3905801;3938630;6193777;6258630;6270089;6307276;6439184;6694361;6809411;710450;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7852349;7890717;8002934;8118028;8207089;8262246;8344274;8440685;8463259;8560266;8576151;8798654;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9443892;9545296;9560306;9565552;9582318;9651395;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "Collagen VI acts as a cell-binding protein., [UniProtKB]; Collagen VI alpha 6 is an important basal lamina component involved in the regulation of epithelial cell behavior most notably as a regulator of epithelial cell-fibronectin interactions, [RefSeq, PubMed]; Localization of alpha5, and to a lesser extent alpha6, is restricted to the papillary dermis, where the protein mainly colocalizes with collagen fibrils; both chains were found around blood vessels, [RefSeq, PubMed]; New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family., [RefSeq, PubMed]; Study identified SNPs in COL6A6 associated with atopic dermatitis suggesting that COL6A6 variants may constitute candidate risk factors for early-onset atopic dermatitis. Publication Status: Online-Only, [RefSeq, PubMed]; The collagen VI alpha6 chain, but not the alpha5 chain, is up-regulated in dystrophic muscles., [RefSeq, PubMed]; The discovery of three additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular matrix., [RefSeq, PubMed]; This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]., [RefSeq]; Whole-genome sequencing reveals possible role of deleterious mutation of COL6A6 in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 11, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 11, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 103, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 19, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A7DZQ0;A7DZQ1;A7DZQ2;Q69YT0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0005589 collagen type VI trimer", "go_biological_process": "GO:0007155 cell adhesion;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 27.3, "record_id": "A6NMZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03393-1", "uniprot_id": [ { "id": "PTPS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03393", "type": "external" } ], "mass": 16386.0, "length": 145, "protein_name": "6-pyruvoyl tetrahydrobiopterin synthase", "gene_name": "PTS", "organism": "Human", "refseq_name": "6-pyruvoyl tetrahydrobiopterin synthase", "refseq_ac": [ { "id": "NP_000308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000308", "type": "external" } ], "gene_names_uniprotkb": "PTS", "gene_names_refseq": "PTPS; PTS", "protein_names_uniprotkb": "6-pyruvoyl tetrahydrobiopterin synthase; 4.2.3.12; PTP synthase; PTPS", "protein_names_refseq": "6-pyruvoyl tetrahydrobiopterin synthase; PTP synthase", "tax_id": 9606, "disease": "BH4-deficient hyperphenylalaninemia A (Disease Ontology:DOID:0090106); phenylketonuria (Disease Ontology:DOID:9281)", "pathway": " (hsa:5805); (R-HSA-1474151)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10220141;10531334;10585341;10874306;11237011;11388593;11825621;11879202;1282802;15476407;16696853;16778797;18511317;18669648;1883349;19666465;20068231;20166139;22706990;23186163;23481700;24275569;25418920;25576301;25892735;26154972;26811146;26992070;27846572;27862975;27920218;28218747;28228285;28514659;28649982;28832583;28904123;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30484775;30779550;31154438;31222486;31530632;31844290;31848261;32157095;32265295;32387766;32502341;32651154;32938616;32983136;33234470;33298915;33392160;33592498;33822819;33903016;33912179;33968037;33981976;35051231;3536512;35580925;36241641;7493990;7563095;7663943;7698774;8068008;8137809;8137944;8178819;8216273;8307017;8502995;8707300;8841415;9159737;9222755;9222757;9450907", "class_list": "", "function": "BH4-deficient hyperphenylalaninemia in Russia. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients., [RefSeq, PubMed]; Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies. Review article, [RefSeq, PubMed]; Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth., [RefSeq, PubMed]; The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ87;Q8WVG8", "ec_number_list": [ { "id": "4.2.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.3.12", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0003874 6-pyruvoyltetrahydropterin synthase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0007417 central nervous system development;GO:0006520 amino acid metabolic process;GO:0006729 tetrahydrobiopterin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q03393-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UDT6-1", "uniprot_id": [ { "id": "CLIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UDT6", "type": "external" } ], "mass": 115837.0, "length": 1046, "protein_name": "CAP-Gly domain-containing linker protein 2", "gene_name": "CLIP2", "organism": "Human", "refseq_name": "CAP-Gly domain-containing linker protein 2 isoform 2", "refseq_ac": [ { "id": "NP_115797", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115797", "type": "external" } ], "gene_names_uniprotkb": "CLIP2; CYLN2; KIAA0291; WBSCR3; WBSCR4; WSCR4", "gene_names_refseq": "CLIP-115; CLIP2; CLIP; CYLN2; WBSCR3; WBSCR4; WSCR3; WSCR4", "protein_names_uniprotkb": "CAP-Gly domain-containing linker protein 2; CLIP-115; Cytoplasmic linker protein 115; Cytoplasmic linker protein 2; Williams-Beuren syndrome chromosomal region 3 protein; Williams-Beuren syndrome chromosomal region 4 protein", "protein_names_refseq": "CAP-Gly domain-containing linker protein 2 isoform 2; Williams-Beuren syndrome chromosome region 3; Williams-Beuren syndrome chromosome region 4; cytoplasmic linker 2; cytoplasmic linker protein 115; cytoplasmic linker protein 2; testicular tissue protein Li 40; williams-Beuren syndrome chromosomal region 3 protein; williams-Beuren syndrome chromosomal region 4 protein", "tax_id": 9606, "disease": "pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); Williams-Beuren syndrome (Disease Ontology:DOID:1928); brain ischemia (Disease Ontology:DOID:2316); brain edema (Disease Ontology:DOID:4724)", "pathway": " (hsa:7461)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11290329;17081983;18088087;19664994;19664995;20068231;20934997;22608712;23186163;23481700;24714562;24715725;25418920;25505266;25576301;25645385;25957251;26728094;27729373;27846572;27862975;27920218;28218747;28228285;28832583;29242379;29437277;29508533;29557506;29786170;30315122;30410026;30429286;30524438;30833945;30896018;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32734598;32897882;32938616;32983136;33141586;33298915;33912179;33936100;33968037;34171305;34509645;34932366;35051231;36284347;37938771;38650040;38665916;8812460;9179496;9799601", "class_list": "", "function": "A clear radiation dose-response relationship for the CLIP2 marker expression in post-Chernobyl papillary thyroid carcinomas, [RefSeq, PubMed]; CILP-2 is a novel secreted protein and demonstrated that circulating CILP-2 levels were elevated in both IGT and nT2DM subjects and associated with IR. CILP-2 overexpression promoted hepatic IR in HFD-fed mice, increased PEPCK expression and suppressed insulin signaling in hepatocytes., [RefSeq, PubMed]; Clinical, pathologic, and genomic characteristics of two pediatric glioneuronal tumors with a CLIP2::MET fusion. Publication Status: Online-Only, [RefSeq, PubMed]; Cross checking with epidemiological estimates and model validation suggests that CLIP2 is a marker of high precision. CLIP2 leaves an imprint in the epidemiological incidence data which is typical for a driver gene., [RefSeq, PubMed]; Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity)., [UniProtKB]; The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]; Whole exome sequencing identifies three novel gene mutations in patients with the triad of diabetic ketoacidosis, hypertriglyceridemia, and acute pancreatitis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O14527;O43611", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0051010 microtubule plus-end binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005938 cell cortex;GO:0005875 microtubule associated complex;GO:0035371 microtubule plus-end", "go_biological_process": "GO:0031122 cytoplasmic microtubule organization", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9UDT6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12111-1", "uniprot_id": [ { "id": "CO6A3_HUMAN", "url": "https://www.uniprot.org/uniprot/P12111", "type": "external" } ], "mass": 343669.0, "length": 3177, "protein_name": "Collagen alpha-3(VI) chain", "gene_name": "COL6A3", "organism": "Human", "refseq_name": "collagen alpha-3(VI) chain isoform 1 precursor", "refseq_ac": [ { "id": "NP_004360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004360", "type": "external" } ], "gene_names_uniprotkb": "COL6A3", "gene_names_refseq": "BTHLM1C; BTHLM1; COL6A3; DYT27; UCMD1C; UCMD1", "protein_names_uniprotkb": "Collagen alpha-3(VI) chain", "protein_names_refseq": "collagen VI, alpha-3 polypeptide; collagen alpha-3(VI) chain isoform 1 precursor; collagen alpha-3(VI) chain; collagen, type VI, alpha 3; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "congenital muscular dystrophy (Disease Ontology:DOID:0050557); Ullrich congenital muscular dystrophy (Disease Ontology:DOID:0050558); tooth agenesis (Disease Ontology:DOID:0050591); atrioventricular septal defect (Disease Ontology:DOID:0050651); juvenile polyposis syndrome (Disease Ontology:DOID:0050787); stroke (Disease Ontology:DOID:0051061); ossification of the posterior longitudinal ligament of spine (Disease Ontology:DOID:0060887); Ullrich congenital muscular dystrophy 1C (Disease Ontology:DOID:0060943); Bethlem myopathy 1C (Disease Ontology:DOID:0061200); physical disorder (Disease Ontology:DOID:0080015); congenital anomalies of the kidney and urinary tract (Disease Ontology:DOID:0080205); congenital anomalies of the kidney and urinary tract 2 (Disease Ontology:DOID:0080207); cleft palate-lateral synechia syndrome (Disease Ontology:DOID:0080313); orofacial cleft 11 (Disease Ontology:DOID:0080404); dystonia 27 (Disease Ontology:DOID:0090050); Axenfeld-Rieger syndrome type 3 (Disease Ontology:DOID:0110122); progressive osseous heteroplasia (Disease Ontology:DOID:0111535); syndromic microphthalmia 6 (Disease Ontology:DOID:0111805); keratoconus (Disease Ontology:DOID:10126); prostate carcinoma (Disease Ontology:DOID:10286); stomach cancer (Disease Ontology:DOID:10534); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); esophagitis (Disease Ontology:DOID:11963); otosclerosis (Disease Ontology:DOID:12185); cartilage disease (Disease Ontology:DOID:1222); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); uterine fibroid (Disease Ontology:DOID:13223); fibrodysplasia ossificans progressiva (Disease Ontology:DOID:13374); tuberous sclerosis (Disease Ontology:DOID:13515); peptic esophagitis (Disease Ontology:DOID:13976); thoracic aortic aneurysm (Disease Ontology:DOID:14004); Marfan syndrome (Disease Ontology:DOID:14323); breast cancer (Disease Ontology:DOID:1612); urinary system disease (Disease Ontology:DOID:18); calcinosis (Disease Ontology:DOID:182); epilepsy (Disease Ontology:DOID:1826); atrial heart septal defect (Disease Ontology:DOID:1882); melanoma (Disease Ontology:DOID:1909); communication disorder (Disease Ontology:DOID:2033); colon cancer (Disease Ontology:DOID:219); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); macular degeneration (Disease Ontology:DOID:4448); renal cell carcinoma (Disease Ontology:DOID:4450); prolactinoma (Disease Ontology:DOID:5394); strabismus (Disease Ontology:DOID:540); myocardial infarction (Disease Ontology:DOID:5844); myositis ossificans (Disease Ontology:DOID:668); chronic kidney disease (Disease Ontology:DOID:784); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); Barrett's esophagus (Disease Ontology:DOID:9206); cleft lip (Disease Ontology:DOID:9296); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:1293); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-186797); (R-HSA-2022090); (R-HSA-216083); (R-HSA-3000178); (R-HSA-419037); (R-HSA-8948216)", "pathway_count": 9, "publication_count": 304, "publication_id_list": "37268159;10.1101/2023.09.13.557529;10022829;10049780;10209034;10339611;10366422;10399756;10438935;10479448;10508235;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11084047;11119712;11158588;11237011;11259413;11518510;11572855;11577169;11713259;11927537;11980922;11992252;12225811;12369853;12473679;12475640;12482924;12496264;12538485;12579531;12585966;12646579;12682293;12765789;12807887;1311092;1323838;1339440;1376317;1400327;1425570;14500733;14602708;14715956;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15615512;15689448;15713743;15767546;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16267048;16293224;16331269;16335952;1639841;16436588;16474853;16493581;16591531;16731529;16754661;16825197;1689238;16933105;1704217;17088321;171650;17339034;17367763;17588949;17604334;17886299;17943726;17968485;18059411;18487197;18559524;18622425;18710925;18775695;18991276;19075007;19159218;19502598;19564526;19664994;19693541;20033473;2005102;2010551;20112406;20470363;2059554;20705068;20813817;21251937;21376233;21406692;21593211;21642437;2169335;21789315;21878990;21935455;21967573;22134916;22241472;22382088;2253219;22539938;22884367;22933705;2307289;23090970;23374253;23481700;23583652;2364322;2412224;24190977;2420006;24275569;2430969;25328409;2537292;2543975;2548603;2551898;25548167;25576301;25597754;25645385;26004199;26154972;26992070;27397612;27600516;27726376;27846572;27862975;2809592;2834383;28435517;2845110;28657654;28832583;28904123;29093181;29137923;29242379;29263244;29331515;29391424;29408302;29493099;29557506;29741879;29786170;29789417;29964125;3038863;30389923;30429286;30459171;30524438;30620550;30779550;30856553;31085175;31092671;31154438;31530632;31611695;3173483;31844290;31848261;3198591;32157095;3223920;32350084;32357974;32488085;32897882;32938616;32983136;33043033;33141586;33298915;33392160;3348212;33592498;33912179;33968037;34185709;35051231;35251023;35494241;35580925;36044599;36284347;3665927;37074911;37938771;37938972;38253038;38665916;3905801;39125689;3938630;6193777;6258630;6270089;6307276;6439184;6694361;6809411;710450;7499434;7505120;7525578;7527058;7533217;7541634;7542249;7542669;7559467;7685013;7693733;7852349;7890717;8002934;8118028;8207089;8262246;8344274;8440685;8463259;8560266;8576151;8798654;8805527;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9251239;9252349;9265624;9294172;9334164;9341124;9346959;9398268;9443892;9536084;9545296;9560306;9565552;9582318;9651395;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "COL6A3 Exosomes Promote Tumor Dissemination and Metastasis in Epithelial Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Collagen VI acts as a cell-binding protein., [UniProtKB]; Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence., [RefSeq, PubMed]; This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]., [RefSeq]", "predicted_glycosites": 10, "predicted_n_glycosites": 4, "predicted_o_glycosites": 6, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 193, "reported_interactions": 1, "missing_score": 0, "biomarker_type": "", "glycan_count": 99, "disease_count": 55, "glyco_site_count": 27, "binding_glycan_count": 1, "secondary_ac_list": "A8MT30;B4E3U5;B7ZMJ7;E9PFQ6;E9PGQ9;Q16501;Q53QF4;Q53QF6", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007155 cell adhesion;GO:0007517 muscle organ development;GO:0009749 response to glucose", "synthesized_glycan_count": 0, "hit_score": 42.1, "record_id": "P12111-1", "record_type": "protein", "filter_code": "0000000.1001111.001000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B2RV13-1", "uniprot_id": [ { "id": "CF97D_HUMAN", "url": "https://www.uniprot.org/uniprot/B2RV13", "type": "external" } ], "mass": 19546.0, "length": 164, "protein_name": "Sperm axonemal maintenance protein CFAP97D1", "gene_name": "CFAP97D1", "organism": "Human", "refseq_name": "sperm axonemal maintenance protein CFAP97D1 isoform 1", "refseq_ac": [ { "id": "NP_001129955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129955", "type": "external" } ], "gene_names_uniprotkb": "CFAP97D1; C17orf105", "gene_names_refseq": "C17orf105; CFAP97D1", "protein_names_uniprotkb": "Sperm axonemal maintenance protein CFAP97D1; CFAP97 domain-containing protein 1", "protein_names_refseq": "CFAP97 domain-containing protein 1; sperm axonemal maintenance protein CFAP97D1 isoform 1; sperm axonemal maintenance protein CFAP97D1; uncharacterized protein C17orf105", "tax_id": 9606, "disease": "", "pathway": " (hsa:284067)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;32785227", "class_list": "", "function": "Required for male fertility through its role in axonemal doublet stabilization which is essential for sperm motility and fertilization., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "B2RV13-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15407-1", "uniprot_id": [ { "id": "FOSL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P15407", "type": "external" } ], "mass": 29413.0, "length": 271, "protein_name": "Fos-related antigen 1", "gene_name": "FOSL1", "organism": "Human", "refseq_name": "fos-related antigen 1 isoform 3", "refseq_ac": [ { "id": "NP_001287784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287784", "type": "external" } ], "gene_names_uniprotkb": "FOSL1; FRA1", "gene_names_refseq": "FOSL1; FRA1; FRA; fra-1", "protein_names_uniprotkb": "Fos-related antigen 1; FRA-1", "protein_names_refseq": "FOS like 1, AP-1 trancription factor subunit; FOS-like antigen-1; fos-related antigen 1 isoform 3; fos-related antigen 1", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); ductal carcinoma in situ (Disease Ontology:DOID:0060074); stomach cancer (Disease Ontology:DOID:10534); colon adenocarcinoma (Disease Ontology:DOID:234); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); renal carcinoma (Disease Ontology:DOID:4451); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:8061); (R-HSA-9031628)", "pathway_count": 2, "publication_count": 156, "publication_id_list": "10203854;10381005;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10984481;11018254;11027551;11237011;11280768;11331872;11343657;11567222;11755530;11840323;11956230;12399542;12511643;1377233;14522948;14597720;14969744;15102911;15161978;15449318;15542842;15620361;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;16287845;16339507;16407550;16484497;16574654;16732277;17088210;17088211;17088212;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;19061646;19116276;19193899;19194657;19926875;20068231;2017159;2040600;20506119;2052361;2072895;21057636;2107490;2109185;21326363;21486943;21621608;22053691;22065583;22286759;22302795;2237820;24060757;25248477;25569790;25748042;26018600;2676516;26861188;27041596;27128622;27220739;27816489;27920218;28076410;28275114;28286024;29382358;29559111;30484775;31222486;3127059;31844290;32082384;32157095;32945473;33214551;33785524;33968037;33981976;34019948;34171305;35051231;35580925;36241641;36284347;3672127;38402581;38665916;38856747;38862832;39113081;39531497;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8230424;8248782;8413279;8483478;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9084409;9343422;9390517;9418898;9622090;9722618;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "FOSL1-mediated LINC01566 negatively regulates CD4[+] T-cell activation in myasthenia gravis. Publication Status: Online-Only, [RefSeq, PubMed]; HNRNPA2B1 stabilizes NFATC3 levels to potentiate its combined actions with FOSL1 to mediate vasculogenic mimicry in GBM cells. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction of NF-kappaB and FOSL1 drives glioma stemness. Publication Status: Online-Only, [RefSeq, PubMed]; Melatonin inhibits the stemness of head and neck squamous cell carcinoma by modulating HA synthesis via the FOSL1/HAS3 axis., [RefSeq, PubMed]; The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DR11;Q6FG51", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990841 promoter-specific chromatin binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006935 chemotaxis;GO:0008284 positive regulation of cell population proliferation;GO:0006968 cellular defense response;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "P15407-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14019-1", "uniprot_id": [ { "id": "COTL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14019", "type": "external" } ], "mass": 15945.0, "length": 142, "protein_name": "Coactosin-like protein", "gene_name": "COTL1", "organism": "Human", "refseq_name": "coactosin-like protein", "refseq_ac": [ { "id": "NP_066972", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066972", "type": "external" } ], "gene_names_uniprotkb": "COTL1; CLP", "gene_names_refseq": "CLP; COTL1", "protein_names_uniprotkb": "Coactosin-like protein", "protein_names_refseq": "coactosin-like 1; coactosin-like protein; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23406); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "11237011;11297527;11583571;12665801;15459340;15754059;17070122;18452278;19608861;19807693;22373659;23481700;23650620;24454796;25034252;26992070;27893417;27920218;28063628;28218747;28228285;28832583;28925397;29393594;29437277;29493099;29557506;29632046;29632711;30315122;30410026;31217245;31530632;31844290;32157095;32350084;32387766;32897882;32938616;32983136;33043033;33592498;33717175;33968037;34019948;34357683;34725712;35051231;35154160;35251023;35580925;35874702;38665916;40914422;8692836;9326934", "class_list": "", "function": "Binds to F-actin in a calcium-independent manner. Has no direct effect on actin depolymerization. Acts as a chaperone for ALOX5 (5LO), influencing both its stability and activity in leukotrienes synthesis., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; COTL1 regulates lamellipodia dynamics in part by protecting F-actin from cofilin-mediated disassembly. Publication Status: Online-Only, [RefSeq, PubMed]; Our combined results elucidated genetic and epigenetic silencing of miR-506-3p enhances COTL1 oncogene expression to foster NSCLC progression., [RefSeq, PubMed]; PAI-RBP1 and C1orf142 expression levels are higher in 95D (high metastatic potential) than in 95C (low metastatic potential) non-small lung cancer cells, whereas COTL1 expression level is lower in 95D when compared to 95C cells., [RefSeq, PubMed]; Study uncovers a novel tumor-suppressor role for CLP/Cotl1 and identify the downstream effectors interleukin 24 (IL-24)/PERP and IL-24/MAPK/ERK/TGF-beta., [RefSeq, PubMed]; The roles of CLP and FLAP in in cellular leukotriene biosynthesis, were studied., [RefSeq, PubMed]; This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDU3;D3DUL9;Q86XM5", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0019899 enzyme binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005829 cytosol;GO:0034774 secretory granule lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0050832 defense response to fungus;GO:0030833 regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q14019-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6J9-1", "uniprot_id": [ { "id": "SEN54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6J9", "type": "external" } ], "mass": 58819.0, "length": 526, "protein_name": "tRNA-splicing endonuclease subunit Sen54", "gene_name": "TSEN54", "organism": "Human", "refseq_name": "tRNA-splicing endonuclease subunit Sen54", "refseq_ac": [ { "id": "NP_997229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997229", "type": "external" } ], "gene_names_uniprotkb": "TSEN54; SEN54", "gene_names_refseq": "PCH2A; PCH4; PCH5; SEN54L; TSEN54; sen54", "protein_names_uniprotkb": "tRNA-splicing endonuclease subunit Sen54; HsSEN54; SEN54 homolog; tRNA-intron endonuclease Sen54", "protein_names_refseq": "SEN54 homolog; TSEN54 tRNA splicing endonuclease subunit; hsSen54; tRNA-intron endonuclease Sen54; tRNA-splicing endonuclease subunit Sen54", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 2A (Disease Ontology:DOID:0060267); pontocerebellar hypoplasia type 4 (Disease Ontology:DOID:0060273); pontocerebellar hypoplasia type 5 (Disease Ontology:DOID:0060274)", "pathway": " (hsa:283989); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10444065;11237011;11455963;11727826;11871657;12138183;12526808;12711671;12729736;15109492;15317868;16361254;16710424;17204286;17224653;17525332;18226598;18669648;18711368;18809514;18984158;19413330;20068231;20956791;21311021;21368912;21450806;21559454;21593607;21824568;22944664;23186163;23307886;24129315;2470644;24870230;24938831;25576301;25640237;25849199;26154972;26992070;27600516;27846572;27920218;28228285;28832583;28904123;29242379;29393594;29557506;29632046;30315122;30429286;31092671;31154438;31844290;32157095;32161166;32265295;32387766;32697043;32897882;32983136;33141586;33298915;33592498;33691108;33912179;34087483;34561969;34932366;35051231;35580925;36241641;36284347;37059591;37217939;6930639;7759547;7828588;9512417;9660920", "class_list": "", "function": "A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family., [RefSeq, PubMed]; Comprehensive analysis reveals TSEN54 as a robust prognosis biomarker and promising immune-related therapeutic target for hepatocellular carcinoma., [RefSeq, PubMed]; In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex., [RefSeq, PubMed]; Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events., [UniProtKB, PubMed]; This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]., [RefSeq]; We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86WV3;Q86XE4;Q8N9H2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000214 tRNA-intron endonuclease complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation;GO:0000379 tRNA-type intron splice site recognition and cleavage;GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q7Z6J9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LI5-1", "uniprot_id": [ { "id": "CNO6L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LI5", "type": "external" } ], "mass": 63001.0, "length": 555, "protein_name": "CCR4-NOT transcription complex subunit 6-like", "gene_name": "CNOT6L", "organism": "Human", "refseq_name": "CCR4-NOT transcription complex subunit 6-like isoform 1", "refseq_ac": [ { "id": "NP_001273719", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273719", "type": "external" } ], "gene_names_uniprotkb": "CNOT6L; CCR4B", "gene_names_refseq": "CCR4b; CNOT6L", "protein_names_uniprotkb": "CCR4-NOT transcription complex subunit 6-like; 3.1.13.4; Carbon catabolite repressor protein 4 homolog B", "protein_names_refseq": "CCR4-NOT transcription complex subunit 6-like isoform 1; carbon catabolite repressor protein 4 homolog B", "tax_id": 9606, "disease": "heart disease (Disease Ontology:DOID:114)", "pathway": " (hsa:246175); (R-HSA-429947); (R-HSA-6804115); (R-HSA-9820841)", "pathway_count": 4, "publication_count": 78, "publication_id_list": "10637334;10882133;11237011;11283721;11814693;11889047;11896574;12897130;1355481;14583602;14749774;14968113;15475613;15713436;16140933;16141059;16160013;16284618;17052452;17146433;17245413;17452450;17595167;18337750;18377426;18625844;19239894;19276069;19558367;20112406;20352051;20531387;20628353;20818722;21233283;22252318;23236473;24715725;25418920;25480299;26154972;26811146;26929215;26992070;27013054;27846572;28904123;29351928;29393594;29437277;29493099;29557506;29632046;31844290;32157095;32357974;32387766;32488085;32502391;32938616;32983136;33298915;33717175;33912179;34171305;34357683;34561969;34611029;34647228;35385705;36010968;37531026;40596516;8944033;9099687;9184226;9671765;9712883", "class_list": "", "function": "CCR4b may be involved in various cellular events that include cell proliferation., [RefSeq, PubMed]; Deadenylase-dependent mRNA decay of GDF15 and FGF21 orchestrates food intake and energy expenditure., [RefSeq, PubMed]; Exosomal circCNOT6L Regulates Astrocyte Apoptotic Signals Induced by Hypoxia Exposure Through miR99a-5p/SERPINE1 and Alleviates Ischemic Stroke Injury., [RefSeq, PubMed]; Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in the deadenylation-dependent degradation of mRNAs through the 3'-UTR AU-rich element-mediated mechanism. Involved in deadenylation-dependent degradation of CDKN1B mRNA. Its mRNA deadenylase activity can be inhibited by TOB1. Mediates cell proliferation and cell survival and prevents cellular senescence., [UniProtKB, PubMed, PubMed, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Show that the nuclease domain of CNOT6L exhibits full Mg(2+)-dependent deadenylase activity with strict poly(A) RNA substrate specificity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9UF92", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0000175 3'-5'-RNA exonuclease activity;GO:0004535 poly(A)-specific ribonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030014 CCR4-NOT complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0006417 regulation of translation;GO:0008284 positive regulation of cell population proliferation;GO:0031047 regulatory ncRNA-mediated gene silencing", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q96LI5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TAT6-1", "uniprot_id": [ { "id": "CODA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TAT6", "type": "external" } ], "mass": 69950.0, "length": 717, "protein_name": "Collagen alpha-1(XIII) chain", "gene_name": "COL13A1", "organism": "Human", "refseq_name": "collagen alpha-1(XIII) chain isoform 1", "refseq_ac": [ { "id": "NP_001123575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123575", "type": "external" } ], "gene_names_uniprotkb": "COL13A1", "gene_names_refseq": "CMS19; COL13A1; COLXIIIA1", "protein_names_uniprotkb": "Collagen alpha-1(XIII) chain; COLXIIIA1", "protein_names_refseq": "collagen alpha-1(XIII) chain isoform 1; collagen alpha-1(XIII) chain; collagen, type XIII, alpha 1", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); familial hypercholanemia 3 (Disease Ontology:DOID:0061180); congenital myasthenic syndrome 19 (Disease Ontology:DOID:0110673)", "pathway": " (hsa:1305); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-216083); (R-HSA-8948216)", "pathway_count": 5, "publication_count": 147, "publication_id_list": "10049780;10209034;10366422;10438935;10479448;10543983;10551873;10593924;10605720;10640428;10673366;10713152;10809722;10811134;10865988;10934207;10982388;11013208;11119712;11158588;11237011;11518510;11572855;11577169;11713259;11927537;11956183;11980922;12473679;12475640;12496264;12579531;12585966;12646579;12682293;12807887;1323838;1447209;1447210;14500733;15005656;15044469;15240572;15257288;15330449;15345499;15383545;15713743;1577494;1588291;15899827;15950618;16002701;16051604;16239428;16591531;16731529;16754661;16825197;16933105;1698771;1704217;17088321;171650;17339034;17968485;18487197;18622425;18710925;18775695;19075007;19502598;19693541;20033473;2005102;2010551;20470363;20705068;21593211;2169335;21878990;21935455;21967573;22241472;22382088;2253219;22539938;22884367;23374253;2459707;2537292;2543975;2548603;2551898;25576301;26626625;2834383;2845110;29557506;3038863;31081514;31220558;3173483;3223920;32350084;33968037;34404755;35051231;3547403;35494241;36010968;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7505120;7525578;7541634;7542249;7559467;7685013;7890717;8118028;8246446;8344274;8463259;8560266;8576151;8798654;8838667;8910476;8920930;8999957;9054364;9092507;9251239;9443892;9545296;9560306;9565552;9582318;9651395;9858236", "class_list": "", "function": "Data suggest that ColXIII has a role in age-dependent cortical bone deterioration with possible implications for osteoporosis and fracture risk., [RefSeq, PubMed]; Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering (PubMed:26626625)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Patients with COL13A1 mutations present mostly with severe early-onset myasthenic syndrome with feeding and breathing difficulties, [RefSeq, PubMed]; TGF-beta2 and collagen play pivotal roles in the spheroid formation and anti-aging of human dermal papilla cells., [RefSeq, PubMed]; This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NFR5;B9EGD2;E7EWL8;Q13992;Q13993;Q13994;Q13995;Q13996;Q5TAT4;Q5TAT5;Q7KZ33;Q7KZ49;Q99228;Q9NQ52", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0030198 extracellular matrix organization;GO:0007160 cell-matrix adhesion;GO:0098609 cell-cell adhesion;GO:0001763 morphogenesis of a branching structure", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q5TAT6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08123-1", "uniprot_id": [ { "id": "CO1A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P08123", "type": "external" } ], "mass": 129314.0, "length": 1366, "protein_name": "Collagen alpha-2(I) chain", "gene_name": "COL1A2", "organism": "Human", "refseq_name": "collagen alpha-2(I) chain precursor", "refseq_ac": [ { "id": "NP_000080", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000080", "type": "external" } ], "gene_names_uniprotkb": "COL1A2", "gene_names_refseq": "COL1A2; EDSARTH2; EDSCV; OI4", "protein_names_uniprotkb": "Collagen alpha-2(I) chain; Alpha-2 type I collagen", "protein_names_refseq": "alpha 2 type I procollagen; alpha 2(I) procollagen; alpha 2(I)-collagen; alpha-2 type I collagen; collagen I, alpha-2 polypeptide; collagen alpha-2(I) chain precursor; collagen alpha-2(I) chain; collagen of skin, tendon and bone, alpha-2 chain; collagen, type I, alpha 2; epididymis secretory sperm binding protein; type I procollagen", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); scoliosis (Disease Ontology:DOID:0060249); Ehlers-Danlos syndrome arthrochalasia type 2 (Disease Ontology:DOID:0080728); Ehlers-Danlos syndrome cardiac valvular type (Disease Ontology:DOID:0080730); branched-chain keto acid dehydrogenase kinase deficiency (Disease Ontology:DOID:0090126); osteogenesis imperfecta type 1 (Disease Ontology:DOID:0110334); osteogenesis imperfecta type 3 (Disease Ontology:DOID:0110339); osteogenesis imperfecta type 4 (Disease Ontology:DOID:0110340); osteogenesis imperfecta type 2 (Disease Ontology:DOID:0110341); intracranial aneurysm (Disease Ontology:DOID:10941); osteoporosis (Disease Ontology:DOID:11476); osteogenesis imperfecta (Disease Ontology:DOID:12347); dilated cardiomyopathy (Disease Ontology:DOID:12930); Ehlers-Danlos syndrome (Disease Ontology:DOID:13359); oligospermia (Disease Ontology:DOID:14228); hypothyroidism (Disease Ontology:DOID:1459); pulmonary fibrosis (Disease Ontology:DOID:3770); heart valve disease (Disease Ontology:DOID:4079); ureteral obstruction (Disease Ontology:DOID:5199); muscular atrophy (Disease Ontology:DOID:767); combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (MONDO:MONDO:0030855)", "pathway": " (hsa:1278); (R-HSA-114604); (R-HSA-1442490); (R-HSA-1566977); (R-HSA-1650814); (R-HSA-198933); (R-HSA-2022090); (R-HSA-202733); (R-HSA-216083); (R-HSA-2173796); (R-HSA-2214320); (R-HSA-2243919); (R-HSA-3000170); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-3000480); (R-HSA-430116); (R-HSA-6785807); (R-HSA-75892); (R-HSA-76009); (R-HSA-8874081); (R-HSA-8948216); (R-HSA-9845619); (R-HSA-9845620); (R-HSA-9845621); (R-HSA-9845622); (R-HSA-9846298); (R-HSA-9925563)", "pathway_count": 28, "publication_count": 698, "publication_id_list": 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"class_list": "", "function": "An integrated bioinformatic investigation of focal adhesion-related genes in glioma followed by preliminary validation of COL1A2 in tumorigenesis., [RefSeq, PubMed]; Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases. Publication Status: Online-Only, [RefSeq, PubMed]; Exosome miR-4738-3p-mediated regulation of COL1A2 through the NF-kappaB and inflammation signaling pathway alleviates osteoarthritis low-grade inflammation symptoms. Publication Status: Online-Only, [RefSeq, PubMed]; The association between Dental Fluorosis and COL1A2 gene polymorphism among a Tunisian Population. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]., [RefSeq]; Type I collagen is a member of group I collagen (fibrillar forming collagen)., [UniProtKB]; [Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta]., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 18, "disease_count": 21, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "P02464;Q13897;Q13997;Q13998;Q14038;Q14057;Q15177;Q15947;Q16480;Q16511;Q7Z5S6;Q9UEB6;Q9UEF9;Q9UM83;Q9UMI1;Q9UML5;Q9UMM6;Q9UPH0", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0046332 SMAD binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix", "go_biological_process": "GO:0008217 regulation of blood pressure;GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0001501 skeletal system development;GO:0007266 Rho protein signal transduction;GO:0030199 collagen fibril organization", "synthesized_glycan_count": 0, "hit_score": 72.4, "record_id": "P08123-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95159-1", "uniprot_id": [ { "id": "ZFPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95159", "type": "external" } ], "mass": 34114.0, "length": 310, "protein_name": "Zinc finger protein-like 1", "gene_name": "ZFPL1", "organism": "Human", "refseq_name": "zinc finger protein-like 1", "refseq_ac": [ { "id": "NP_006773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006773", "type": "external" } ], "gene_names_uniprotkb": "ZFPL1", "gene_names_refseq": "D11S750; MCG4; ZFPL1", "protein_names_uniprotkb": "Zinc finger protein-like 1; Zinc finger protein MCG4", "protein_names_refseq": "zinc finger protein MCG4; zinc finger protein-like 1; zinc-finger protein in MEN1 region", "tax_id": 9606, "disease": "", "pathway": " (hsa:7542)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1038/emboj.2013.79;11237011;18323775;23584533;27846572;28447717;29393594;29557506;29789417;30036656;31217245;32387766;32938616;33968037;34019948;35051231;35132862;38665916;9253601;9653652", "class_list": "", "function": "Required for cis-Golgi integrity and efficient ER to Golgi transport., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Required for cis-Golgi integrity and efficient ER to Golgi transport. Involved in the maintenance of the integrity of the cis-Golgi, possibly via its interaction with GOLGA2/GM130., [UniProtKB, PubMed]; The RING domain was essential for the function of ZFPL1., [RefSeq, PubMed]; These data suggest that ZFPL1 has an important function in maintaining the integrity of the cis-Golgi and that it does so through interactions with GM130., [RefSeq, PubMed]; These results suggest that ZFPL1 may serve an important role in regulating autophagy in NCIN87 and BGC823 cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K7E9;O14616;Q9UID0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "O95159-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56856-1", "uniprot_id": [ { "id": "CLD18_HUMAN", "url": "https://www.uniprot.org/uniprot/P56856", "type": "external" } ], "mass": 27856.0, "length": 261, "protein_name": "Claudin-18", "gene_name": "CLDN18", "organism": "Human", "refseq_name": "claudin-18 isoform 2", "refseq_ac": [ { "id": "NP_001002026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002026", "type": "external" } ], "gene_names_uniprotkb": "CLDN18; PRO1572", "gene_names_refseq": "CLDN18; SFTA5; SFTPJ", "protein_names_uniprotkb": "Claudin-18", "protein_names_refseq": "claudin-18 isoform 2; surfactant associated 5; surfactant associated protein J; surfactant, pulmonary associated protein J", "tax_id": 9606, "disease": "", "pathway": " (hsa:51208); (R-HSA-420029)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11237011;11447115;11585919;11964389;12953056;12975309;16129888;19047087;19706394;24787463;29557506;29671580;31154438;31848261;33912179;35051231;35580925;35681738;36284347;38724721;38749447;38843446;39085339;39095563", "class_list": "", "function": "Claudin-18 status and its correlation with HER2 and PD-L1 expression in gastric cancer with peritoneal dissemination., [RefSeq, PubMed]; Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia., [UniProtKB, UniProtKB]; Expression of the membrane tetraspanin claudin 18 on cancer cells promotes T lymphocyte infiltration and antitumor immunity in pancreatic cancer., [RefSeq, PubMed]; Heterogeneity of claudin 18.2 expression in metastatic gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in alveolar fluid homeostasis via regulation of alveolar epithelial tight junction composition and therefore ion transport and solute permeability, potentially via downstream regulation of the actin cytoskeleton organization and beta-2-adrenergic signaling (By similarity). Required for lung alveolarization and maintenance of the paracellular alveolar epithelial barrier (By similarity). Acts to maintain epithelial progenitor cell proliferation and organ size, via regulation of YAP1 localization away from the nucleus and thereby restriction of YAP1 target gene transcription (By similarity). Acts as a negative regulator of RANKL-induced osteoclast differentiation, potentially via relocation of TJP2/ZO-2 away from the nucleus, subsequently involved in bone resorption in response to calcium deficiency (By similarity). Mediates the osteoprotective effects of estrogen, potentially via acting downstream of estrogen signaling independently of RANKL signaling pathways (By similarity)., [UniProtKB, UniProtKB]; Involved in the maintenance of homeostasis of the alveolar microenvironment via regulation of pH and subsequent T-cell activation in the alveolar space, is therefore indirectly involved in limiting C.neoformans infection., [UniProtKB, UniProtKB]; Molecular SPECT/CT Profiling of Claudin18.2 Expression In Vivo: Implication for Patients with Gastric Cancer., [RefSeq, PubMed]; Required for the formation of the gastric paracellular barrier via its role in tight junction formation, thereby involved in the response to gastric acidification., [UniProtKB, UniProtKB]; The impact of CLDN18.2 expression on effector cells mediating antibody-dependent cellular cytotoxicity in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is upregulated in patients with ulcerative colitis and highly overexpressed in infiltrating ductal adenocarcinomas. PKC/MAPK/AP-1 (protein kinase C/mitogen-activated protein kinase/activator protein-1) dependent pathway regulates the expression of this gene in gastric cells. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5PL21;Q96PH4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction;GO:0016328 lateral plasma membrane", "go_biological_process": "GO:0120192 tight junction assembly;GO:0042045 epithelial fluid transport;GO:0045471 response to ethanol;GO:0048286 lung alveolus development;GO:1900181 negative regulation of protein localization to nucleus", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P56856-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JT82-1", "uniprot_id": [ { "id": "KLF17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JT82", "type": "external" } ], "mass": 42577.0, "length": 389, "protein_name": "Krueppel-like factor 17", "gene_name": "KLF17", "organism": "Human", "refseq_name": "Krueppel-like factor 17", "refseq_ac": [ { "id": "NP_775755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775755", "type": "external" } ], "gene_names_uniprotkb": "KLF17; ZNF393", "gene_names_refseq": "KLF17; ZLF393; ZNF393; Zfp393", "protein_names_uniprotkb": "Krueppel-like factor 17; Zinc finger protein 393", "protein_names_refseq": "Krueppel-like factor 17; Kruppel like factor 17; novel zinc-finger protein; zinc finger protein 393", "tax_id": 9606, "disease": "", "pathway": " (hsa:128209)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;16460907;19801974;19951400;22240024;33667708;33960231;34661235;34738482;35391627", "class_list": "", "function": "Demonstrate that KLF17 expression is significantly downregulated in primary human breast cancer samples and that the combined expression pattern of KLF17 and Id1 can serve as a potential biomarker for lymph node metastasis in breast cancer, [RefSeq, PubMed]; Effect of KLF17 overexpression on epithelial-mesenchymal transition of gastric cancer cells., [RefSeq, PubMed]; It is possible that KLF17 inhibits tumor growth in lung adenocarcinoma., [RefSeq, PubMed]; KLF17 has a role in transcriptional regulation of metastasis by Id1 [review] Review article, [RefSeq, PubMed]; KLF17 is a new member of the Sp/KLF family of transcription factors., [RefSeq, PubMed]; KLF17 promotes human naive pluripotency but is not required for its establishment., [RefSeq, PubMed]; KLF17 promotes human naive pluripotency through repressing MAPK3 and ZIC2., [RefSeq, PubMed]; Precision hyperthermia-induced miRNA-409-3p upregulation inhibits migration, invasion, and EMT of gastric cancer cells by targeting KLF17., [RefSeq, PubMed]; Transcription repressor that binds to the promoter of target genes and prevents their expression. Acts as a negative regulator of epithelial-mesenchymal transition and metastasis in breast cancer. Specifically binds the 5'-CACCC-3' sequence in the promoter of ID1, a key metastasis regulator in breast cancer, and repress its expression. May be a germ cell-specific transcription factor that plays important roles in spermatid differentiation and oocyte development (By similarity)., [UniProtKB, PubMed]; Up-regulation of KLF17 expression increases the sensitivity of gastric cancer to 5-fluorouracil., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86VQ7;Q8N805", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5JT82-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZJ6-1", "uniprot_id": [ { "id": "COQ3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZJ6", "type": "external" } ], "mass": 41054.0, "length": 369, "protein_name": "Ubiquinone biosynthesis O-methyltransferase, mitochondrial", "gene_name": "COQ3", "organism": "Human", "refseq_name": "ubiquinone biosynthesis O-methyltransferase, mitochondrial", "refseq_ac": [ { "id": "NP_059117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059117", "type": "external" } ], "gene_names_uniprotkb": "COQ3; UG0215E05", "gene_names_refseq": "COQ3; DHHBMTASE; DHHBMT; UG0215E05; bA9819.1", "protein_names_uniprotkb": "Ubiquinone biosynthesis O-methyltransferase, mitochondrial; 2.1.1.-; 2.1.1.114; 2.1.1.64; 3-demethylubiquinol 3-O-methyltransferase; 3-demethylubiquinone 3-O-methyltransferase; Polyprenyldihydroxybenzoate methyltransferase", "protein_names_refseq": "2-polyprenyl-6-hydroxyphenol methylase; 2-polyprenyl-6-hydroxyphenyl methylase; 3,4-dihydroxy-5-hexaprenylbenzoate methyltransferase; 3-demethylubiquinol 3-O-methyltransferase; 3-demethylubiquinone 3-O-methyltransferase; 3-demethylubiquinone-10 3-methyltransferase; DHHB methyltransferase; DHHB-MTase; coenzyme Q3 homolog, methyltransferase; dihydroxyhexaprenylbenzoate methyltransferase; hexaprenyldihydroxybenzoate methyltransferase, mitochondrial; methyltransferase COQ3; polyprenyldihydroxybenzoate methyltransferase; ubiquinone biosynthesis O-methyltransferase, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:51805); (R-HSA-2142789)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10501970;10777520;11230166;11237011;12721307;15153069;16262699;16624818;17081983;17374725;17916383;19161160;20877624;21540551;21944752;23301498;23354120;24270420;25152161;25339443;26992070;27155576;27499296;28510447;28832583;28855257;28904123;29242379;31844290;31848261;32357974;32488085;32502341;32707086;32938616;33298915;33912179;33968037;33981976;34471290;35051231;35580925;36241641;36306796;36658222;38425362;8621692;9083049", "class_list": "", "function": "O-methyltransferase required for two non-consecutive steps during ubiquinone biosynthesis (By similarity) (PubMed:10777520, PubMed:38425362). Catalyzes the 2 O-methylation of 3,4-dihydroxy-5-(all-trans-decaprenyl)benzoic acid into 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoic acid (By similarity) (PubMed:10777520, PubMed:38425362). Also catalyzes the last step of ubiquinone biosynthesis by mediating methylation of 3-demethylubiquinone into ubiquinone (By similarity) (PubMed:38425362). Also able to mediate the methylation of 3-demethylubiquinol-10 into ubiquinol-10 (By similarity) (PubMed:10777520)., [UniProtKB, PubMed, HAMAP, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPX0;Q5T061;Q6P4F0;Q8IXG6;Q96BG1;Q9H0N1", "ec_number_list": [ { "id": "2.1.1.201", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.201", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "1.14.99.60", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.60", "type": "external" }, { "id": "1.14.13.253", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.253", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.114", "type": "external" }, { "id": "2.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.64", "type": "external" }, { "id": "1.14.15.45", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.45", "type": "external" }, { "id": "1.14.15.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.46", "type": "external" }, { "id": "4.1.1.130", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.130", "type": "external" } ], "go_molecular_function": "GO:0008171 O-methyltransferase activity;GO:0010420 polyprenyldihydroxybenzoate methyltransferase activity;GO:0061542 3-demethylubiquinol 3-O-methyltransferase activity;GO:0120537 3-demethylubiquinone 3-O-methyltransferase activity", "go_cellular_component": "GO:0031314 extrinsic component of mitochondrial inner membrane;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006744 ubiquinone biosynthetic process;GO:0006071 glycerol metabolic process;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9NZJ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHD4-1", "uniprot_id": [ { "id": "CIDEB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHD4", "type": "external" } ], "mass": 24678.0, "length": 219, "protein_name": "Lipid transferase CIDEB", "gene_name": "CIDEB", "organism": "Human", "refseq_name": "lipid transferase CIDEB isoform 1", "refseq_ac": [ { "id": "NP_001305736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305736", "type": "external" } ], "gene_names_uniprotkb": "CIDEB", "gene_names_refseq": "CIDEB", "protein_names_uniprotkb": "Lipid transferase CIDEB; Cell death activator CIDE-B; Cell death-inducing DFFA-like effector B", "protein_names_refseq": "cell death activator CIDE-B; lipid transferase CIDEB isoform 1; lipid transferase CIDEB", "tax_id": 9606, "disease": "", "pathway": " (hsa:27141)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10619428;11237011;12429024;27282740;27862975;28832583;29557506;30429286;31154438;31844290;31848261;33141586;35051231;35475772;35580925;35939579;9564035", "class_list": "", "function": "(Microbial infection) Involved in Hepatatis C virus (HCV) assembly and required for HCV entry into hepatocytes., [UniProtKB, PubMed]; Association of CIDEB gene promoter methylation with overweight or obesity in adults., [RefSeq, PubMed]; Germline Mutations in CIDEB and Protection against Liver Disease., [RefSeq, PubMed]; Lipid transferase specifically expressed in hepatocytes, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion (PubMed:35939579). Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring lipid storage (PubMed:35939579). Localizes on the lipid droplet surface, at focal contact sites between lipid droplets, and mediates atypical lipid droplet fusion by promoting directional net neutral lipid transfer from the smaller to larger lipid droplets (By similarity). The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair (By similarity). Promotes lipid exchange and lipid droplet fusion in both small and large lipid droplet-containing hepatocytes (By similarity). In addition to its role in lipid droplet fusion, also involved in cytoplasmic vesicle biogenesis and transport (By similarity). Required for very-low-density lipoprotein (VLDL) lipidation and maturation (By similarity). Probably involved in the biogenesis of VLDL transport vesicles by forming a COPII vesicle coat and facilitating the formation of endoplasmic reticulum-derived large vesicles (By similarity). Also involved in sterol-regulated export of the SCAP-SREBP complex, composed of SCAP, SREBF1/SREBP1 and SREBF2/SREBP2, by promoting loading of SCAP-SREBP into COPII vesicles (By similarity). May also activate apoptosis (PubMed:10619428)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DS73;Q546V8;Q9NNW9", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0070300 phosphatidic acid binding;GO:0120013 lipid transfer activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0090110 COPII-coated vesicle cargo loading;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0031667 response to nutrient levels;GO:0034379 very-low-density lipoprotein particle assembly", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9UHD4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MQB3-1", "uniprot_id": [ { "id": "CQ051_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MQB3", "type": "external" } ], "mass": 24325.0, "length": 221, "protein_name": "Putative uncharacterized protein LINC02693", "gene_name": "LINC02693", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC02693; C17orf51", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LINC02693", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "25645385;26992070;28832583;29242379;31848261;34171305", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RN29;B5MCL4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A8MQB3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15003-1", "uniprot_id": [ { "id": "CND2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15003", "type": "external" } ], "mass": 82563.0, "length": 741, "protein_name": "Condensin complex subunit 2", "gene_name": "NCAPH", "organism": "Human", "refseq_name": "condensin complex subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_001268639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268639", "type": "external" } ], "gene_names_uniprotkb": "NCAPH; BRRN1; BRRN; CAPH; KIAA0074", "gene_names_refseq": "BRRN1; CAP-H; CAPH; MCPH23; NCAPH1; NCAPH", "protein_names_uniprotkb": "Condensin complex subunit 2; Barren homolog protein 1; Chromosome-associated protein H; Non-SMC condensin I complex subunit H; XCAP-H homolog; hCAP-H", "protein_names_refseq": "barren homolog 1; chromosome-associated protein H; condensin complex subunit 2 isoform 2; condensin complex subunit 2", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 23 (Disease Ontology:DOID:0051034); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:23397); (R-HSA-2514853)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "11136719;11237011;11694586;14607834;15146063;15572404;16543152;16565220;16964243;17066080;17081983;17356064;17924679;18212344;18452278;18669648;18691976;18977199;19007248;19413330;19481522;19608861;19651622;19664994;19664995;19690332;19691289;20068230;20068231;21498573;22898188;23186163;23301498;23481700;24366607;24714562;25576301;26154972;26728094;26992070;27600516;27737959;27920218;28218747;28228285;28446606;28510447;28832583;28834231;28904123;29242379;29437277;29493099;29508533;30315122;30379171;30484775;30524438;30779550;30833945;31217245;31222486;31530632;31844290;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33392160;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34725712;34932366;35051231;35688915;36010968;36215666;36241641;36380731;36642844;36650758;37938771;38665916;38755247;39894887;40307207;40914422;9774278", "class_list": "", "function": "An integrative pan-cancer analysis reveals the carcinogenic effects of NCAPH in human cancer., [RefSeq, PubMed]; MiR-1976/NCAPH/P65 axis inhibits the malignant phenotypes of lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; NCAPH Stabilizes GEN1 in Chromatin to Resolve Ultra-Fine DNA Bridges and Maintain Chromosome Stability., [RefSeq, PubMed]; NCAPH is a prognostic biomarker and associated with immune infiltrates in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Non-SMC condensin I complex subunit H participates in anti-programmed cell death-1 resistance of clear cell renal cell carcinomas., [RefSeq, PubMed]; Our results identify a SSB-specific response of condensin I through PARP-1 and demonstrate a role for condensin in SSB. repair., [RefSeq, PubMed]; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 34, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4E189;Q8TB87", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0000796 condensin complex", "go_biological_process": "GO:1905820 positive regulation of chromosome separation;GO:0051984 positive regulation of chromosome segregation;GO:0051301 cell division;GO:0007076 mitotic chromosome condensation;GO:0030183 B cell differentiation", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q15003-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30536-1", "uniprot_id": [ { "id": "TSPO_HUMAN", "url": "https://www.uniprot.org/uniprot/P30536", "type": "external" } ], "mass": 18828.0, "length": 169, "protein_name": "Translocator protein", "gene_name": "TSPO", "organism": "Human", "refseq_name": "translocator protein", "refseq_ac": [ { "id": "NP_000705", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000705", "type": "external" } ], "gene_names_uniprotkb": "TSPO; BZRP; MBR; PBRS", "gene_names_refseq": "BPBS; BZRP; DBI; IBP; MBR; PBR; PBS; PKBS; PTBR; TSPO1; TSPO; mDRC; pk18", "protein_names_uniprotkb": "Translocator protein; Mitochondrial benzodiazepine receptor; PBR; PKBS; Peripheral-type benzodiazepine receptor", "protein_names_refseq": "benzodiazepine peripheral binding site; mitochondrial benzodiazepine receptor; peripheral-type benzodiazepine receptor; translocator protein", "tax_id": 9606, "disease": "cholesterol ester storage disease (Disease Ontology:DOID:14502)", "pathway": " (hsa:706); (R-HSA-196108)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11215759;11237011;11304832;16189298;16822554;17143515;1847678;18477386;19846611;20068231;20600583;24814875;25542846;25818881;26992070;27641616;27846572;29557506;2981667;3001071;3024157;32157095;32350084;32387766;32983136;33043033;33392160;33592498;35051231;35318648;35580925;36010968;36215666;36241641;37291448;37574731;37580767;37801139;37952221;38665916;7721091;8307574;8645003;9578606;9915832", "class_list": "", "function": "Can bind protoporphyrin IX and may play a role in the transport of porphyrins and heme (By similarity). Promotes the transport of cholesterol across mitochondrial membranes and may play a role in lipid metabolism (PubMed:24814875), but its precise physiological role is controversial. It is apparently not required for steroid hormone biosynthesis. Was initially identified as peripheral-type benzodiazepine receptor; can also bind isoquinoline carboxamides (PubMed:1847678)., [UniProtKB, PubMed, PubMed]; Integrating TSPO PET imaging and transcriptomics to unveil the role of neuroinflammation and amyloid-beta deposition in Alzheimer's disease., [RefSeq, PubMed]; Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]., [RefSeq]; TSPO Modulates Oligomeric Amyloid-beta-Induced Monocyte Chemotaxis: Relevance for Neuroinflammation in Alzheimer's Disease., [RefSeq, PubMed]; The mitochondrial protein TSPO in Alzheimer's disease: relation to the severity of AD pathology and the neuroinflammatory environment. Publication Status: Online-Only, [RefSeq, PubMed]; Translocator protein (TSPO) expression in neoplastic cells and tumor-associated macrophages in meningiomas., [RefSeq, PubMed]; [[18]F]DPA-714: Effect of co-medications, age, sex, BMI and TSPO polymorphism on the human plasma input function., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53Y59;Q6ICF9;Q96TF6", "ec_number_list": [], "go_molecular_function": "GO:0044325 transmembrane transporter binding;GO:0015485 cholesterol binding;GO:0005497 androgen binding;GO:0008503 benzodiazepine receptor activity;GO:0120020 cholesterol transfer activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:1901525 negative regulation of mitophagy;GO:0071476 cellular hypotonic response;GO:0060242 contact inhibition;GO:0060252 positive regulation of glial cell proliferation;GO:0042127 regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "P30536-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14746-1", "uniprot_id": [ { "id": "COG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14746", "type": "external" } ], "mass": 83208.0, "length": 738, "protein_name": "Conserved oligomeric Golgi complex subunit 2", "gene_name": "COG2", "organism": "Human", "refseq_name": "conserved oligomeric Golgi complex subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_001138508", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138508", "type": "external" } ], "gene_names_uniprotkb": "COG2; LDLC", "gene_names_refseq": "CDG2Q; COG2; LDLC", "protein_names_uniprotkb": "Conserved oligomeric Golgi complex subunit 2; COG complex subunit 2; Component of oligomeric Golgi complex 2; Low density lipoprotein receptor defect C-complementing protein", "protein_names_refseq": "COG complex subunit 2; brefeldin A-sensitive, peripheral Golgi protein; conserved oligomeric Golgi complex protein 2; conserved oligomeric Golgi complex subunit 2 isoform 2; conserved oligomeric Golgi complex subunit 2; low density lipoprotein receptor defect C complementing; low density lipoprotein receptor defect C-complementing protein", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIq (Disease Ontology:DOID:0070269)", "pathway": " (hsa:22796); (R-HSA-6807878); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 4, "publication_count": 269, "publication_id_list": "10052452;10189370;10209123;10318838;10445031;10559959;10637310;10652308;10652516;10679020;10761932;10865125;10903204;10921873;10990452;11035033;11172815;11237011;11285137;11303027;11306556;11346801;11359012;11461920;11689439;11689559;11703931;11718716;11726511;11748249;11827983;11839770;12011112;12047556;12070132;12377769;12383348;12388752;12429822;12620188;12620189;12634853;14580338;14654841;14718928;14742712;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16129887;1631136;16571679;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17253781;17274799;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18086915;18182008;18195106;18243103;18256213;18283113;18367545;18451304;18452278;18524849;18664496;18809720;18946081;1898986;18991276;19015319;19109418;19164740;19296914;19490898;19536132;1957170;19620288;19631211;19715559;19758564;20163571;20357002;20427317;20637885;20685960;20874812;21183348;21219331;21421921;21436057;21689688;21807881;21844168;22013193;22094269;22188167;22304919;22335553;22354037;22424782;22581368;22717455;23091056;23239882;23378023;23437303;23462996;23481700;23839779;23936529;23940353;24119662;24366607;24715725;24784932;24794632;24806965;25343031;25418920;25436559;25492864;25576301;25645385;25708460;25892735;26154972;26375851;26992070;27846572;27862975;27893789;27920218;28218747;28228285;28446606;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;39302247;7691276;7909812;7962052;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8670882;8945478;8991093;9050864;9114004;9150144;9177194;9230071;9244307;9288971;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "glycogene", "function": "Required for normal Golgi morphology and function., [UniProtKB]; This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 830, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86U99", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0032588 trans-Golgi network membrane;GO:0005795 Golgi stack;GO:0017119 Golgi transport complex", "go_biological_process": "GO:0015031 protein transport;GO:0007030 Golgi organization;GO:0000301 retrograde transport, vesicle recycling within Golgi;GO:0006891 intra-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 27.2, "record_id": "Q14746-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BPX3-1", "uniprot_id": [ { "id": "CND3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BPX3", "type": "external" } ], "mass": 114334.0, "length": 1015, "protein_name": "Condensin complex subunit 3", "gene_name": "NCAPG", "organism": "Human", "refseq_name": "condensin complex subunit 3", "refseq_ac": [ { "id": "NP_071741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071741", "type": "external" } ], "gene_names_uniprotkb": "NCAPG; CAPG; NYMEL3", "gene_names_refseq": "CAPG; CHCG; NCAPG; NY-MEL-3; YCG1", "protein_names_uniprotkb": "Condensin complex subunit 3; Chromosome-associated protein G; Condensin subunit CAP-G; Melanoma antigen NY-MEL-3; Non-SMC condensin I complex subunit G; XCAP-G homolog; hCAP-G", "protein_names_refseq": "XCAP-G homolog; chromosome condensation protein G; chromosome-associated protein G; condensin complex subunit 3; condensin subunit CAP-G; melanoma antigen NY-MEL-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:64151); (R-HSA-2514853)", "pathway_count": 2, "publication_count": 123, "publication_id_list": "10910072;11136719;11237011;14607834;15146063;15572404;16959974;17066080;17081983;17322306;17356064;17924679;18088087;18452278;18669648;18691976;18767875;18977199;19413330;19415658;19481522;19651622;19690332;19691289;20068231;20230923;21406692;21498573;22424782;22898188;23186163;23301498;23481700;24366607;24714562;24715725;25418920;25469497;25576301;25645385;26154972;26375851;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30484775;30524438;30779550;31154438;31217245;31222486;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36581221;36635261;36996493;37066775;37335105;38320572;38665916;40914422;9774278", "class_list": "", "function": "Galectin-1-mediated high NCAPG expression correlates with poor prognosis in gastric cancer., [RefSeq, PubMed]; NCAPG as a novel prognostic biomarker in numerous cancers: a meta-analysis and bioinformatics analysis., [RefSeq, PubMed]; Reduced miR-99a-3p levels in systemic lupus erythematosus may promote B cell proliferation via NCAPG and the PI3K/AKT signaling pathway., [RefSeq, PubMed]; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases., [UniProtKB, PubMed]; The Diagnostic and Therapeutic Value of NCAPG as a Proposed Biomarker Candidate in Acute Liver Failure., [RefSeq, PubMed]; The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant phenotypes of glioma stem cells through activating the TGF-beta pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3MJE0;Q96SV9;Q9BUR3;Q9BVY1;Q9H914;Q9H9Z6;Q9HBI9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:1905820 positive regulation of chromosome separation;GO:0051984 positive regulation of chromosome segregation;GO:0051301 cell division;GO:0007076 mitotic chromosome condensation;GO:1905821 positive regulation of chromosome condensation", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q9BPX3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16740-1", "uniprot_id": [ { "id": "CLPP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16740", "type": "external" } ], "mass": 30180.0, "length": 277, "protein_name": "ATP-dependent Clp protease proteolytic subunit, mitochondrial", "gene_name": "CLPP", "organism": "Human", "refseq_name": "ATP-dependent Clp protease proteolytic subunit, mitochondrial precursor", "refseq_ac": [ { "id": "NP_006003", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006003", "type": "external" } ], "gene_names_uniprotkb": "CLPP", "gene_names_refseq": "CLPP; DFNB81; PRLTS3", "protein_names_uniprotkb": "ATP-dependent Clp protease proteolytic subunit, mitochondrial; 3.4.21.92; Caseinolytic mitochondrial matrix peptidase proteolytic subunit; Endopeptidase Clp", "protein_names_refseq": "ATP-dependent Clp protease proteolytic subunit, mitochondrial precursor; ATP-dependent protease ClpAP, proteolytic subunit, human; ClpP caseinolytic peptidase ATP-dependent, proteolytic subunit; ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog; ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog; endopeptidase Clp; putative ATP-dependent Clp protease proteolytic subunit, mitochondrial", "tax_id": 9606, "disease": "Perrault syndrome (Disease Ontology:DOID:0050857); sideroblastic anemia 1 (Disease Ontology:DOID:0060063); erythropoietic protoporphyria (Disease Ontology:DOID:13270); cutaneous porphyria (Disease Ontology:DOID:13271); hemochromatosis (Disease Ontology:DOID:2352); anemia (Disease Ontology:DOID:2355); bilirubin metabolic disorder (Disease Ontology:DOID:2741); acute intermittent porphyria (Disease Ontology:DOID:3890); hemolytic anemia (Disease Ontology:DOID:583); sideroblastic anemia (Disease Ontology:DOID:8955)", "pathway": " (hsa:8192); (R-HSA-9837999)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10525407;11237011;11923310;12198491;14623864;15522782;15870080;16115876;17101804;17297443;17579211;19413330;19608861;19841671;19892738;20068231;21216894;22262461;22354088;22710082;23201127;23541340;23931759;24315374;24366607;24520911;25576301;25956234;26375851;26504172;26923599;26992070;27496948;27642048;27846572;27920218;28228285;28377575;28396416;28514659;28832583;28904123;29242379;29301859;29632711;29932645;30120231;31154438;31327635;31695197;31844290;31998317;32157095;32357974;33257573;33592498;33936100;33968037;34357683;34509645;34704252;34943861;35240691;35580925;35870450;35905743;36010968;36629048;37923710;38419499;7623837;8543061", "class_list": "", "function": "Aberrant human ClpP activation disturbs mitochondrial proteome homeostasis to suppress pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; CLPP deficiency ameliorates neurodegeneration caused by impaired mitochondrial protein synthesis., [RefSeq, PubMed]; HSPA8-mediated stability of the CLPP protein regulates mitochondrial autophagy in cisplatin-resistant ovarian cancer cells. Erratum:[Acta Biochim Biophys Sin (Shanghai). 2025 Feb 25;57(2):326. doi: 10.3724/abbs.2024243. PMID: 39719882], [RefSeq, PubMed]; Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA. Publication Status: Online-Only, [RefSeq, PubMed]; Protease component of the ClpXP complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The ClpXP complex can degrade CSN1S1, CSN2 and CSN3, as well as synthetic peptides (in vitro) and may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates (PubMed:11923310, PubMed:15522782). Cleaves PINK1 in the mitochondrion (PubMed:22354088)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Selective activator of human ClpP triggers cell cycle arrest to inhibit lung squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4W5", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0051117 ATPase binding;GO:0008233 peptidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0009368 endopeptidase Clp complex", "go_biological_process": "GO:0006508 proteolysis;GO:0035694 mitochondrial protein catabolic process;GO:0051603 proteolysis involved in protein catabolic process;GO:0033619 membrane protein proteolysis;GO:0006515 protein quality control for misfolded or incompletely synthesized proteins", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q16740-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10643-1", "uniprot_id": [ { "id": "CO7_HUMAN", "url": "https://www.uniprot.org/uniprot/P10643", "type": "external" } ], "mass": 93518.0, "length": 843, "protein_name": "Complement component C7", "gene_name": "C7", "organism": "Human", "refseq_name": "complement component C7 precursor", "refseq_ac": [ { "id": "NP_000578", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000578", "type": "external" } ], "gene_names_uniprotkb": "C7", "gene_names_refseq": "C7", "protein_names_uniprotkb": "Complement component C7", "protein_names_refseq": "complement component 7; complement component C7 precursor; complement component C7", "tax_id": 9606, "disease": "complement component 7 deficiency (Disease Ontology:DOID:0060300); membranous glomerulonephritis (Disease Ontology:DOID:10976); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:730); (R-HSA-166665); (R-HSA-977606)", "pathway_count": 3, "publication_count": 92, "publication_id_list": "10.1021/acs.analchem.6b02887;10531307;10551839;1067618;11237011;11694537;11939578;12055245;1386357;14760718;16079145;16192651;16335952;16999828;17182573;17505110;19139490;19419965;21788512;22028381;22171320;22802338;22832194;23090970;23487775;2420889;2465906;2466593;2481448;26841837;27052168;27452731;28035807;293688;293746;29557506;2956252;29632711;29671580;2971659;29741879;29789417;301546;30429286;3052276;30552328;31061395;31154438;31848261;32350084;32569291;3335508;34357683;34667172;35051231;35111412;35251023;35580925;36797260;37074911;37938771;3848661;39814882;39914456;4098172;6177822;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;7730625;8345200;8495193;8786315;8871666;9038722;9218625;978134;9856499", "class_list": "", "function": "Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis. The MAC is initiated by proteolytic cleavage of C5 into complement C5b in response to the classical, alternative, lectin and GZMK complement pathways. The complement pathways consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. C7 serves as a membrane anchor. During MAC assembly, associates with C5b and C6 to form the C5b-7 complex, a key lipophilic precursor of the MAC complex, which associates with the outer leaflet and reduces the energy for membrane bending., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Functional genetic variants in complement component 7 confer susceptibility to gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 4, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 4, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 4, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 4, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 37, "disease_count": 3, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K2T4;Q6P3T5;Q92489", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005579 membrane attack complex", "go_biological_process": "GO:0055085 transmembrane transport;GO:0031640 killing of cells of another organism;GO:0050778 positive regulation of immune response;GO:0006958 complement activation, classical pathway;GO:0006956 complement activation", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "P10643-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1110000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24468-1", "uniprot_id": [ { "id": "COT2_HUMAN", "url": "https://www.uniprot.org/uniprot/P24468", "type": "external" } ], "mass": 45571.0, "length": 414, "protein_name": "COUP transcription factor 2", "gene_name": "NR2F2", "organism": "Human", "refseq_name": "COUP transcription factor 2 isoform b", "refseq_ac": [ { "id": "NP_001138627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138627", "type": "external" } ], "gene_names_uniprotkb": "NR2F2; ARP1; TFCOUP2", "gene_names_refseq": "ARP-1; ARP1; CHTD4; COUPTF2; COUPTFB; COUPTFII; NF-E3; NR2F2; SRXX5; SVP40; TFCOUP2", "protein_names_uniprotkb": "COUP transcription factor 2; ARP-1; Apolipoprotein A-I regulatory protein 1; COUP transcription factor II; COUP-TF II; COUP-TF2; Nuclear receptor subfamily 2 group F member 2", "protein_names_refseq": "ADP-ribosylation factor related protein 1; COUP transcription factor 2 isoform b; COUP transcription factor II; apolipoprotein A-I regulatory protein 1; apolipoprotein AI regulatory protein 1; chicken ovalbumin upstream promoter transcription factor 2; chicken ovalbumin upstream promoter-transcription factor I", "tax_id": 9606, "disease": "46,XX sex reversal 5 (Disease Ontology:DOID:0080943); hypertension (Disease Ontology:DOID:10763); dilated cardiomyopathy (Disease Ontology:DOID:12930); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); type 2 diabetes mellitus (Disease Ontology:DOID:9352); congenital heart defects, multiple types, 4 (MONDO:MONDO:0014344)", "pathway": " (hsa:7026); (R-HSA-381340); (R-HSA-9940951)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10075656;10204490;10318855;10425206;10970879;10978333;11095972;11237011;11872672;12213831;12829629;15273253;15850785;15919796;16380219;17011499;17646674;17980149;1820218;18619963;18798693;18931025;1899293;19043829;19115207;19172745;20101261;22898188;23239344;24275569;24554700;24702954;25150861;25576301;25593309;25645385;26992070;27397612;27600516;27633282;27732854;27846572;28228285;28514659;28649982;28832583;28834231;29042441;29242379;29393594;29478779;29557506;29786170;30045876;30134174;30315122;30429286;31746185;31844290;31848261;31998317;32157095;32161166;32897882;32938616;33968037;34019948;34211107;34910830;35051231;35154160;35318648;35580925;35666805;36008597;36010968;36241641;36284347;37015919;37039367;37500725;37938771;7969165;8325954;8643605;8706692;8770873;8970730;9065481;9343308;9454824;9512513;9836620", "class_list": "", "function": "Abnormal hsa_circ_0003948 expression affects chronic periodontitis development by regulating miR-144-3p/NR2F2/PTEN signaling., [RefSeq, PubMed]; An epigenetic switch controls an alternative NR2F2 isoform that unleashes a metastatic program in melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays., [RefSeq, PubMed]; Inflammation and DKK1-induced AKT activation contribute to endothelial dysfunction following NR2F2 loss., [RefSeq, PubMed]; Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A. May be required to establish ovary identity during early gonad development (PubMed:29478779)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DQJ2;B6ZGU1;Q03754;Q3KQR7", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0060838 lymphatic endothelial cell fate commitment;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P24468-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56880-1", "uniprot_id": [ { "id": "CLD20_HUMAN", "url": "https://www.uniprot.org/uniprot/P56880", "type": "external" } ], "mass": 23515.0, "length": 219, "protein_name": "Claudin-20", "gene_name": "CLDN20", "organism": "Human", "refseq_name": "claudin-20 precursor", "refseq_ac": [ { "id": "NP_001001346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001346", "type": "external" } ], "gene_names_uniprotkb": "CLDN20", "gene_names_refseq": "CLDN20", "protein_names_uniprotkb": "Claudin-20", "protein_names_refseq": "claudin-20 precursor; testis secretory sperm-binding protein Li 229n", "tax_id": 9606, "disease": "spastic quadriplegic cerebral palsy 3 (Disease Ontology:DOID:0081361); hereditary spherocytosis type 1 (Disease Ontology:DOID:0110916); hypertension (Disease Ontology:DOID:10763); cerebral palsy (Disease Ontology:DOID:1969); IgA glomerulonephritis (Disease Ontology:DOID:2986)", "pathway": " (hsa:49861); (R-HSA-420029)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "11447115;11964389;12953056;16129888;30734065", "class_list": "", "function": "Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity., [UniProtKB]; This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0070160 tight junction", "go_biological_process": "GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P56880-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57739-1", "uniprot_id": [ { "id": "CLD2_HUMAN", "url": "https://www.uniprot.org/uniprot/P57739", "type": "external" } ], "mass": 24549.0, "length": 230, "protein_name": "Claudin-2", "gene_name": "CLDN2", "organism": "Human", "refseq_name": "claudin-2", "refseq_ac": [ { "id": "NP_001164563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164563", "type": "external" } ], "gene_names_uniprotkb": "CLDN2; PRO1356; PSEC0059; SP82", "gene_names_refseq": "CLDN2; OAZON; claudin-2", "protein_names_uniprotkb": "Claudin-2; SP82", "protein_names_refseq": "SP82; claudin-2", "tax_id": 9606, "disease": "spastic quadriplegic cerebral palsy 3 (Disease Ontology:DOID:0081361); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); hydrocephalus (Disease Ontology:DOID:10908); gastroschisis (Disease Ontology:DOID:11044); familial combined hyperlipidemia (Disease Ontology:DOID:13809); atherosclerosis (Disease Ontology:DOID:1936); cerebral palsy (Disease Ontology:DOID:1969); IgA glomerulonephritis (Disease Ontology:DOID:2986); temporal lobe epilepsy (Disease Ontology:DOID:3328); myocardial infarction (Disease Ontology:DOID:5844); azoospermia, obstructive, with nephrolithiasis (MONDO:MONDO:0025356)", "pathway": " (hsa:9075); (R-HSA-420029)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11447115;11934881;11964389;12953056;12975309;15498874;16129888;16303743;20460438;22731716;30833945;31320686;36008380;36961882;37147871;38056686", "class_list": "", "function": "Claudin-2 in hyperproliferative migrating keratinocytes and migration inhibition via siRNA knockdown., [RefSeq, PubMed]; Downregulation of angulin-1/LSR induces malignancy via upregulation of EGF-dependent claudin-2 and TGF-beta-dependent cell metabolism in human lung adenocarcinoma A549 cells. Publication Status: Online-Only, [RefSeq, PubMed]; Forms paracellular channels: polymerizes in tight junction strands with cation- and water-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:20460438, PubMed:36008380). In intestinal epithelium, allows for sodium and water fluxes from the peritoneal side to the lumen of the intestine to regulate nutrient absorption and clear enteric pathogens as part of mucosal immune response (By similarity). In kidney, allows passive sodium and calcium reabsorption across proximal tubules from the lumen back to the bloodstream (By similarity). In the hepatobiliary tract, allows paracellular water and cation fluxes in the hepatic perivenous areas and biliary epithelium to generate bile flow and maintain osmotic gradients (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Plasma-activated medium ameliorates the chemoresistance of human lung adenocarcinoma cells mediated via downregulation of claudin-2 expression., [RefSeq, PubMed]; This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6B9", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity;GO:0160187 paracellular tight junction channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction;GO:0030054 cell junction;GO:0070160 tight junction", "go_biological_process": "GO:1904729 regulation of intestinal lipid absorption;GO:0098609 cell-cell adhesion;GO:0002227 innate immune response in mucosa;GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules;GO:0120188 regulation of bile acid secretion", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P57739-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13956-1", "uniprot_id": [ { "id": "CNCG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13956", "type": "external" } ], "mass": 9074.0, "length": 83, "protein_name": "Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma", "gene_name": "PDE6H", "organism": "Human", "refseq_name": "retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma", "refseq_ac": [ { "id": "NP_006196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006196", "type": "external" } ], "gene_names_uniprotkb": "PDE6H", "gene_names_refseq": "ACHM6; PDE6H; RCD3", "protein_names_uniprotkb": "Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma; 3.1.4.35; GMP-PDE gamma", "protein_names_refseq": "GMP-PDE gamma; phosphodiesterase 6H, cGMP-specific, cone, gamma; retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma", "tax_id": 9606, "disease": "achromatopsia 6 (Disease Ontology:DOID:0081025)", "pathway": " (hsa:5149)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "15629837;22901948;8786098", "class_list": "", "function": "Our results indicate that mutations in the PDE6H gene are not common, because only 1 of 240 patients with cone dystrophy showed a single nucleotide substitution in the 5' UTR of PDE6H mRNA, [RefSeq, PubMed]; Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones., [UniProtKB]; These findings add PDE6H to the set of genes involved in autosomal-recessive cone disorders and demonstrate the importance of the inhibitory gamma subunit in cone phototransduction, [RefSeq, PubMed]; This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q52LY7", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" } ], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0030553 cGMP binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity", "go_cellular_component": "GO:0042622 photoreceptor outer segment membrane", "go_biological_process": "GO:0045745 positive regulation of G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q13956-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16280-1", "uniprot_id": [ { "id": "CNGA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16280", "type": "external" } ], "mass": 76048.0, "length": 664, "protein_name": "Cyclic nucleotide-gated channel alpha-2", "gene_name": "CNGA2", "organism": "Human", "refseq_name": "cyclic nucleotide-gated channel alpha-2", "refseq_ac": [ { "id": "NP_005131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005131", "type": "external" } ], "gene_names_uniprotkb": "CNGA2; CNCA1; CNCA; CNCG2", "gene_names_refseq": "CNCA1; CNCA; CNG2; CNGA2; OCNC1; OCNCALPHA; OCNCa", "protein_names_uniprotkb": "Cyclic nucleotide-gated channel alpha-2; CNG channel alpha-2; CNG-2; CNG2; OCNC1; Olfactory cyclic nucleotide-gated channel subunit 1", "protein_names_refseq": "CNG channel alpha-2; cyclic nucleotide gated channel alpha 2; cyclic nucleotide-gated channel alpha-2; cyclic nucleotide-gated olfactory channel; cyclic-nucleotide-gated cation channel 2; olfactory cyclic nucleotide-gated channel subunit 1", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); transitional cell carcinoma (Disease Ontology:DOID:2671); invasive ductal carcinoma (Disease Ontology:DOID:3008); high grade glioma (Disease Ontology:DOID:3070); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:1260); (R-HSA-381753); (R-HSA-5620916)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "10460249;11764791;12221131;15158452;15598656;15728366;16038802;16136078;16155582;16431365;16533895;16537653;16782012;16959974;17007872;17030804;17574030;17601748;17628206;17646400;17873857;17956946;17973576;18685082;19017632;19153612;19297529;19454479;19474308;19581598;20083215;20308558;21273506;21550243;21565611;21775626;22389062;22420621;22433857;22983554;23351793;23567335;23945166;24296415;24316890;25156905;25784876;25977809;26373539;27916747;27916748;28411811;28572688;28656349;28832583;29235485;31040214;32265295;7532814;9819391", "class_list": "", "function": "Identification of a novel X-linked stop mutation in CNGA2 (c.634C>T, p.R212*) in two brothers with isolated congenital anosmia., [RefSeq, PubMed]; Pore-forming subunit of the olfactory cyclic nucleotide-gated channel. Operates in the cilia of olfactory sensory neurons where chemical stimulation of the odorant is converted to an electrical signal. Mediates odorant-induced cAMP-dependent Ca(2+) influx triggering neuron depolarization. The rise of intracellular Ca(2+) levels potentiates the olfactory response by activating Ca(2+)-dependent Cl(-) channels, but it also serves as a negative feedback signal to desensitize the channel for rapid adaptation to odorants. Conducts cAMP- and cGMP-gated ion currents, with permeability for monovalent and divalent cations., [UniProtKB, UniProtKB]; The protein encoded by this gene represents the alpha subunit of a cyclic nucleotide-gated olfactory channel. The encoded protein contains a carboxy-terminal leucine zipper that mediates channel formation. [provided by RefSeq, Jan 2010]., [RefSeq]; The results showed that it is predominantly the charge of the E342 residue in the P-loop, rather than the pore helix dipoles, which controls the cation-anion selectivity of the CNGA2 channel., [RefSeq, PubMed]; The studies findings provides strong support for role of CNGA2 gene with pathogenicity of isolated congenital anosmia in humans. Together, these results indicate that mutations in key olfactory signaling pathway genes are responsible for human disease. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVD0", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005516 calmodulin binding;GO:0005223 intracellularly cGMP-activated cation channel activity;GO:0005222 intracellularly cAMP-activated cation channel activity;GO:0030552 cAMP binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0060170 ciliary membrane;GO:0017071 intracellular cyclic nucleotide activated cation channel complex;GO:0030660 Golgi-associated vesicle membrane;GO:0098804 non-motile cilium membrane", "go_biological_process": "GO:0006816 calcium ion transport;GO:0098655 monoatomic cation transmembrane transport;GO:0006813 potassium ion transport;GO:0007608 sensory perception of smell;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q16280-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16281-1", "uniprot_id": [ { "id": "CNGA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16281", "type": "external" } ], "mass": 78838.0, "length": 694, "protein_name": "Cyclic nucleotide-gated channel alpha-3", "gene_name": "CNGA3", "organism": "Human", "refseq_name": "cyclic nucleotide-gated channel alpha-3 isoform 2", "refseq_ac": [ { "id": "NP_001073347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073347", "type": "external" } ], "gene_names_uniprotkb": "CNGA3; CNCG3", "gene_names_refseq": "ACHM2; CCNC1; CCNCalpha; CCNCa; CNCG3; CNG3; CNGA3", "protein_names_uniprotkb": "Cyclic nucleotide-gated channel alpha-3; CNG channel alpha-3; CNG-3; CNG3; Cone photoreceptor cGMP-gated channel subunit alpha-3", "protein_names_refseq": "CNG channel alpha-3; cone photoreceptor cGMP-gated channel alpha subunit; cone photoreceptor cGMP-gated channel subunit alpha-3; cone photoreceptor cGMP-gated channel subunit alpha; cyclic nucleotide gated channel alpha 3; cyclic nucleotide-gated cation channel alpha-3; cyclic nucleotide-gated channel alpha-3 isoform 2", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); achromatopsia 2 (Disease Ontology:DOID:0110007); silicosis (Disease Ontology:DOID:10325); hypertension (Disease Ontology:DOID:10763); uveitis (Disease Ontology:DOID:13141); color blindness (Disease Ontology:DOID:13399); cholestasis (Disease Ontology:DOID:13580); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); liver disease (Disease Ontology:DOID:409); ureteral obstruction (Disease Ontology:DOID:5199); hepatocellular carcinoma (Disease Ontology:DOID:684); hyperargininemia (Disease Ontology:DOID:9278)", "pathway": " (hsa:1261)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10888875;11536077;11764791;12815043;14757870;15134637;15712225;15743887;18521937;21878911;21901789;23033978;23481700;24903488;26493561;28228285;29557506;31844290;34969976;35233102;35456423;35494241;36801918;37372476;37463923;37689994;7532814;9517456;9662398", "class_list": "", "function": "Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families. Publication Status: Online-Only, [RefSeq, PubMed]; Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia., [RefSeq, PubMed]; Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia. Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming subunit of the cone cyclic nucleotide-gated channel. Mediates cone photoresponses at bright light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the channel open enabling a steady inward current carried by Na(+) and Ca(2+) ions that leads to membrane depolarization and neurotransmitter release from synaptic terminals. Upon photon absorption cGMP levels decline leading to channel closure and membrane hyperpolarization that ultimately slows neurotransmitter release and signals the presence of light, the end point of the phototransduction cascade (PubMed:10888875, PubMed:12815043, PubMed:34969976, PubMed:37463923). Pore-forming subunit of the gustatory cyclic nucleotide-gated channel. In the taste buds, may sense oral extracellular pH and conduct ion currents that modulate the excitability of taste cells (By similarity). Conducts cGMP- and cAMP-gated ion currents, with permeability for monovalent and divalent cations (By similarity) (PubMed:12815043)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB]; Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E9PF93;Q4VAP7;Q53RD2;Q6ZNA7;Q9UP64", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0015276 ligand-gated monoatomic ion channel activity;GO:0045296 cadherin binding;GO:0017022 myosin binding;GO:0005223 intracellularly cGMP-activated cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043204 perikaryon;GO:0043194 axon initial segment;GO:0017071 intracellular cyclic nucleotide activated cation channel complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007601 visual perception;GO:0060041 retina development in camera-type eye;GO:0098655 monoatomic cation transmembrane transport;GO:0006812 monoatomic cation transport", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q16281-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32M92-1", "uniprot_id": [ { "id": "CO032_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32M92", "type": "external" } ], "mass": 20262.0, "length": 178, "protein_name": "Uncharacterized protein C15orf32", "gene_name": "C15orf32", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "C15orf32", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein C15orf32", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C5HTZ8;Q96M45", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q32M92-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JTZ5-1", "uniprot_id": [ { "id": "CI152_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JTZ5", "type": "external" } ], "mass": 26314.0, "length": 239, "protein_name": "Uncharacterized protein C9orf152", "gene_name": "C9orf152", "organism": "Human", "refseq_name": "uncharacterized protein C9orf152", "refseq_ac": [ { "id": "NP_001013011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013011", "type": "external" } ], "gene_names_uniprotkb": "C9orf152", "gene_names_refseq": "C9orf152; bA470J20.2", "protein_names_uniprotkb": "Uncharacterized protein C9orf152", "protein_names_refseq": "uncharacterized protein C9orf152", "tax_id": 9606, "disease": "", "pathway": " (hsa:401546)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MWT6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5JTZ5-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5KU26-1", "uniprot_id": [ { "id": "COL12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5KU26", "type": "external" } ], "mass": 81515.0, "length": 742, "protein_name": "Collectin-12", "gene_name": "COLEC12", "organism": "Human", "refseq_name": "collectin-12", "refseq_ac": [ { "id": "NP_569057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_569057", "type": "external" } ], "gene_names_uniprotkb": "COLEC12; CLP1; NSR2; SCARA4; SRCL", "gene_names_refseq": "CLP1; COLEC12; NSR2; SCARA4; SRCL", "protein_names_uniprotkb": "Collectin-12; CL-P1; Collectin placenta protein 1; Nurse cell scavenger receptor 2; Scavenger receptor class A member 4; Scavenger receptor with C-type lectin; hCL-P1", "protein_names_refseq": "collectin placenta protein 1; collectin sub-family member 12; collectin-12; hCL-P1; nurse cell scavenger receptor 2; scavenger receptor class A, member 4; scavenger receptor with C-type lectin", "tax_id": 9606, "disease": "", "pathway": " (hsa:81035); (R-HSA-198933); (R-HSA-3000480)", "pathway_count": 3, "publication_count": 156, "publication_id_list": "10.1101/2023.09.13.557529;10224290;10499918;10651831;10686426;10722588;10746781;11162630;11265639;11489943;11513152;11556966;11564734;11807247;11820786;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12488451;12588680;12601552;12761161;12763022;12847263;1339697;14609958;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15489334;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15845541;15851719;15864273;16014749;16091383;16129954;16177791;16237101;16339513;16380601;16525990;16551255;16737824;16754721;16868960;16882874;16893496;16904340;16926412;16928187;16984918;17045824;17057721;17179669;17237375;17332894;17337780;17420244;17709607;17974005;18031695;18037897;18055229;18209062;18234675;1852209;18593354;19073604;19149696;19227971;19359216;19592130;19911804;20360967;20730098;20810988;20849212;20888598;20956340;21241660;21782039;21800138;21841309;21877119;22396535;2251254;22570530;23090970;2318890;23197261;23695528;23929856;24190977;24305946;25418920;25576301;25703557;25716998;25819896;26284469;26300885;27846572;28317919;28904123;29491476;29557506;29741879;31530632;31848261;32488085;32822099;32909942;32938616;33592498;3467373;35580925;37074911;38112409;38568322;39894887;6088540;6255257;7531291;7542404;7607209;8127896;8178173;8429030;8751442;8784195;8995416;9225214;9285412;9314561;9465098;9468508;9511720;9548586;9700512;9730896", "class_list": "glycogene", "function": "COLEC12 Promotes Tumor Progression and Is Correlated With Poor Prognosis in Gastric Cancer., [RefSeq, PubMed]; Dysregulated AEBP1 and COLEC12 Genes in Late-Onset Alzheimer's Disease: Insights from Brain Cortex and Peripheral Blood Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Haplotype structure of the CL-P1 gene obtained from six single-nucleotide polymorphisms that were genotyped with 108 alleles in Japanese subjects, [RefSeq, PubMed]; SRCL is expressed in some but not all nurse-like cells; its C-type lectin domain binds specifically to several carbohydrates including GalNAc, T and Tn antigen in a Ca2+-dependent manner., [RefSeq, PubMed]; SRCL might be involved in selective clearance of specific desialylated glycoproteins from circulation and/or interaction of cells bearing Lewis(x)-type structures with the vascular endothelium, [RefSeq, PubMed]; Scavenger receptor that displays several functions associated with host defense. Promotes binding and phagocytosis of Gram-positive, Gram-negative bacteria and yeast. Mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. Binds to several carbohydrates including Gal-type ligands, D-galactose, L- and D-fucose, GalNAc, T and Tn antigens in a calcium-dependent manner and internalizes specifically GalNAc in nurse-like cells. Also binds to sialyl Lewis X or a trisaccharide and asialo-orosomucoid (ASOR). May also play a role in the clearance of amyloid-beta in Alzheimer disease., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Soluble collectin-12 mediates C3-independent docking of properdin that activates the alternative pathway of complement. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, May 2018]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 907, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q6P9F2;Q8TCR2;Q8WZA4;Q9BY85;Q9BYH7", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity;GO:0046872 metal ion binding;GO:0030169 low-density lipoprotein particle binding;GO:0038187 pattern recognition receptor activity;GO:0005534 galactose binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031012 extracellular matrix;GO:0030666 endocytic vesicle membrane", "go_biological_process": "GO:0006952 defense response;GO:0030198 extracellular matrix organization;GO:0045087 innate immune response;GO:0002682 regulation of immune system process;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "Q5KU26-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TBE3-1", "uniprot_id": [ { "id": "CI153_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TBE3", "type": "external" } ], "mass": 11254.0, "length": 101, "protein_name": "Uncharacterized protein C9orf153", "gene_name": "C9orf153", "organism": "Human", "refseq_name": "uncharacterized protein C9orf153", "refseq_ac": [ { "id": "NP_001263295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263295", "type": "external" } ], "gene_names_uniprotkb": "C9orf153", "gene_names_refseq": "C9orf153; bA507D14.1", "protein_names_uniprotkb": "Uncharacterized protein C9orf153", "protein_names_refseq": "uncharacterized protein C9orf153", "tax_id": 9606, "disease": "", "pathway": " (hsa:389766)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TBE4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5TBE3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5W0N0-1", "uniprot_id": [ { "id": "CI057_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5W0N0", "type": "external" } ], "mass": 18115.0, "length": 161, "protein_name": "Uncharacterized protein C9orf57", "gene_name": "C9orf57", "organism": "Human", "refseq_name": "uncharacterized protein C9orf57 isoform 1", "refseq_ac": [ { "id": "NP_001122090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122090", "type": "external" } ], "gene_names_uniprotkb": "C9orf57", "gene_names_refseq": "C9orf57", "protein_names_uniprotkb": "Uncharacterized protein C9orf57", "protein_names_refseq": "uncharacterized protein C9orf57 isoform 1; uncharacterized protein C9orf57", "tax_id": 9606, "disease": "", "pathway": " (hsa:138240)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29731959;34171305", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L456", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5W0N0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWE3-1", "uniprot_id": [ { "id": "COLL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWE3", "type": "external" } ], "mass": 10812.0, "length": 100, "protein_name": "Colipase-like protein 2", "gene_name": "CLPSL2", "organism": "Human", "refseq_name": "colipase-like protein 2 isoform a", "refseq_ac": [ { "id": "NP_001273479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273479", "type": "external" } ], "gene_names_uniprotkb": "CLPSL2; C6orf126; PRO9861", "gene_names_refseq": "AAAL3045; C6orf126; CLPSL2; UNQ3045; dJ510O8.5", "protein_names_uniprotkb": "Colipase-like protein 2", "protein_names_refseq": "colipase-like protein 2 isoform a; colipase-like protein 2; colipase-like protein C6orf126", "tax_id": 9606, "disease": "", "pathway": " (hsa:389383)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "12975309;15340161;24715725", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0QZ45;Q5T9G3", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6UWE3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXN8-1", "uniprot_id": [ { "id": "CLC9A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXN8", "type": "external" } ], "mass": 27324.0, "length": 241, "protein_name": "C-type lectin domain family 9 member A", "gene_name": "CLEC9A", "organism": "Human", "refseq_name": "C-type lectin domain family 9 member A", "refseq_ac": [ { "id": "NP_997228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997228", "type": "external" } ], "gene_names_uniprotkb": "CLEC9A; PRO34046", "gene_names_refseq": "CD370; CLEC9A; DNGR-1; DNGR1; UNQ9341", "protein_names_uniprotkb": "C-type lectin domain family 9 member A", "protein_names_refseq": "C-type lectin domain family 9 member A; HEEE9341; dendritic cell natural killer lectin group receptor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:283420)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12975309;18408006;18497879;18669894;19219027;22483802;24190977;29065139;33349708;34081922;34415004;35901921", "class_list": "glycogene", "function": "Analysis of differences between mouse and human Clec9A, [RefSeq, PubMed]; CLEC9A functions as a SYK-coupled C-type lectin receptor to mediate sensing of necrosis by the principal dendritic-cell subset involved in regulating cross-priming to cell-associated antigens, [RefSeq, PubMed]; CLEC9A functions as an activation receptor, [RefSeq, PubMed]; CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008]., [RefSeq]; DC, NK lectin group receptor-1 (DNGR-1) is a C-type lectin of the NK cell receptor group GeneRIF: The paper cited (J Clin Invest. 2008 Jun;118(6):2098-110) is the first characterization of human and mouse CLEC9A (a.k.a DNGR-1), [RefSeq, PubMed]; Expression of clec9a in the oral cancer microenvironment. A preliminary immunohistochemical pilot study. Publication Status: Online-Only, [RefSeq, PubMed]; Findings demonstrate that CLEC9A is a specialized receptor that modulates the innate immune response when there is a mycobacterial infection Publication Status: Online-Only, [RefSeq, PubMed]; Functions as an endocytic receptor on a small subset of myeloid cells specialized for the uptake and processing of material from dead cells. Recognizes filamentous form of actin in association with particular actin-binding domains of cytoskeletal proteins, including spectrin, exposed when cell membranes are damaged, and mediate the cross-presentation of dead-cell associated antigens in a Syk-dependent manner., [UniProtKB, PubMed, PubMed]; Increased expression of Clec9A on cDC1s associated with cytotoxic CD8(+) T cell response in COPD. Review article, [RefSeq, PubMed]; Secreted gelsolin inhibits DNGR-1-dependent cross-presentation and cancer immunity., [RefSeq, PubMed]; The receptor DNGR-1 signals for phagosomal rupture to promote cross-presentation of dead-cell-associated antigens. Erratum:[Nat Immunol. 2021 Mar;22(3):391. doi: 10.1038/s41590-021-00885-6. PMID: 33531713], [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 312, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B0ZBM2", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0001819 positive regulation of cytokine production;GO:0006898 receptor-mediated endocytosis", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6UXN8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZUT6-1", "uniprot_id": [ { "id": "CCD9B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZUT6", "type": "external" } ], "mass": 57325.0, "length": 534, "protein_name": "Coiled-coil domain-containing protein 9B", "gene_name": "CCDC9B", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 9B", "refseq_ac": [ { "id": "NP_997263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997263", "type": "external" } ], "gene_names_uniprotkb": "CCDC9B; C15orf52", "gene_names_refseq": "C15orf52; CCDC9B", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 9B", "protein_names_refseq": "coiled-coil domain-containing protein 9B; uncharacterized protein C15orf52", "tax_id": 9606, "disease": "", "pathway": " (hsa:388115)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;16959974;17081983;18491316;18669648;23186163;24129315;24275569;29557506;31848261;32938616;33968037;35051231;36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EIQ8;Q68DG9;Q6ZTM3;Q6ZU22", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q6ZUT6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q711Q0-1", "uniprot_id": [ { "id": "CEFIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q711Q0", "type": "external" } ], "mass": 156477.0, "length": 1435, "protein_name": "Cardiac-enriched FHL2-interacting protein", "gene_name": "CEFIP", "organism": "Human", "refseq_name": "cardiac-enriched FHL2-interacting protein", "refseq_ac": [ { "id": "NP_001128668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128668", "type": "external" } ], "gene_names_uniprotkb": "CEFIP; C10orf71", "gene_names_refseq": "C10orf71; CEFIP; CMD1QQ", "protein_names_uniprotkb": "Cardiac-enriched FHL2-interacting protein", "protein_names_refseq": "cardiac enriched FHL2-interacting protein; cardiac-enriched FHL2-interacting protein; uncharacterized protein C10orf71", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); cardiomyopathy, dilated, 1QQ (MONDO:MONDO:0979239)", "pathway": " (hsa:118461)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "23186163;28717008;30379171;31154438;31217245;31844290;37179318;38950288", "class_list": "", "function": "Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that CEFIP (cardiac-enriched FHL2-interacting protein) interacts with FHL2 (four and a half LIM domains protein-2) and modulates calcineurin signaling in cardiomyocytes; CEFIP is located at sarcomeric z-disc and is up-regulated in several models of cardiomegaly., [RefSeq, PubMed]; Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. Publication Status: Online-Only, [RefSeq, PubMed]; Is an activator of the calcineurin/NFAT signaling pathway in cardiomyocytes, and is involved in myocardium morphogenesis, and regulation of myocardium mass and cardiac contractile function., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AVL8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0030018 Z disc", "go_biological_process": "GO:0070886 positive regulation of calcineurin-NFAT signaling cascade", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q711Q0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZR5-1", "uniprot_id": [ { "id": "CKLF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZR5", "type": "external" } ], "mass": 25828.0, "length": 234, "protein_name": "CKLF-like MARVEL transmembrane domain-containing protein 4", "gene_name": "CMTM4", "organism": "Human", "refseq_name": "CKLF-like MARVEL transmembrane domain-containing protein 4 isoform 1", "refseq_ac": [ { "id": "NP_848933", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848933", "type": "external" } ], "gene_names_uniprotkb": "CMTM4; CKLFSF4", "gene_names_refseq": "CKLFSF4; CMTM4", "protein_names_uniprotkb": "CKLF-like MARVEL transmembrane domain-containing protein 4; Chemokine-like factor superfamily member 4", "protein_names_refseq": "CKLF-like MARVEL transmembrane domain-containing protein 4 isoform 1; CKLF-like MARVEL transmembrane domain-containing protein 4; chemokine-like factor super family 4; chemokine-like factor superfamily member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:146223)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12782130;20213316;23186163;25576301;26474560;26992070;28813410;32157095;35051231;35958549;35983975;35986302;36271145;38363884", "class_list": "", "function": "Acts as a backup for CMTM6 to regulate plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. May protect PD-L1/CD274 from being polyubiquitinated and targeted for degradation., [UniProtKB, PubMed]; Analysis of CMTM6 and CMTM4 expression as potential regulators of the PD-L1 protein and its association with prognosis in glioma cancer., [RefSeq, PubMed]; Bioinformatics based on CKLF2 cDNA and protein sequences in combination with experimental validation identified CKLFSF1-8 gene clusters, between the SCY and the TM4SF gene families. The 8 family members were cloned and characterized., [RefSeq, PubMed]; CMTM4 is a subunit of the IL-17 receptor and mediates autoimmune pathology., [RefSeq, PubMed]; CMTM4 is downregulated and exhibits tumour-suppressor activities in clear cell renal cell carcinoma, and could be exploited as a target for clear cell renal cell carcinoma treatment. Publication Status: Online-Only, [RefSeq, PubMed]; CMTM6 and CMTM4 as two novel regulators of PD-L1 modulate the tumor microenvironment. Review article Publication Status: Online-Only, [RefSeq, PubMed]; CMTM6 is present at the cell surface, associates with the PD-L1 protein, reduces its ubiquitination and increases PD-L1 protein half-life; CMTM6 enhances the ability of PD-L1-expressing tumour cells to inhibit T cells; collectively, our data reveal that PD-L1 relies on CMTM6/4 to efficiently carry out its inhibitory function, and suggest potential new avenues to block this pathway, [RefSeq, PubMed]; Data show that CMTM4 might be an important gene involved in cell growth and cell cycle regulation., [RefSeq, PubMed]; Prognostic significance and immune characteristics of CMTM4 in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic significance of RKIP, TGM2, and CMTM4 expression in oral squamous cell carcinoma., [RefSeq, PubMed]; This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q52M40;Q8IZR4;Q8IZV1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8IZR5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4M7-1", "uniprot_id": [ { "id": "CJ126_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4M7", "type": "external" } ], "mass": 19474.0, "length": 172, "protein_name": "Putative uncharacterized protein C10orf126", "gene_name": "C10orf126", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "C10orf126", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein C10orf126", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "35051231;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T2Z8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N4M7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7P3-1", "uniprot_id": [ { "id": "CLD22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7P3", "type": "external" } ], "mass": 24509.0, "length": 220, "protein_name": "Claudin-22", "gene_name": "CLDN22", "organism": "Human", "refseq_name": "claudin-22", "refseq_ac": [ { "id": "NP_001104789", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104789", "type": "external" } ], "gene_names_uniprotkb": "CLDN22", "gene_names_refseq": "CLDN21; CLDN22", "protein_names_uniprotkb": "Claudin-22", "protein_names_refseq": "claudin-22", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); late onset Parkinson's disease (Disease Ontology:DOID:0060892); pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:53842); (R-HSA-420029)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11447115;11964389;12736707;12953056;16129888;30524438;35051231", "class_list": "", "function": "CLDN21, clustered with CLDN22 at human chromosome 4q35.1, is a four-transmembrane protein with WWCC motif, defined by W-X(17-22)-W-X(2)-C-X(8-10)-C., [RefSeq, PubMed]; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity., [UniProtKB]; This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and overlaps the 3' UTR of the WWC2 gene (GeneID: 80014) on the opposite strand. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0016338 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N7P3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAL5-1", "uniprot_id": [ { "id": "CI043_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAL5", "type": "external" } ], "mass": 52222.0, "length": 461, "protein_name": "Uncharacterized protein C9orf43", "gene_name": "C9orf43", "organism": "Human", "refseq_name": "uncharacterized protein C9orf43 isoform 1", "refseq_ac": [ { "id": "NP_001265558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265558", "type": "external" } ], "gene_names_uniprotkb": "C9orf43", "gene_names_refseq": "C9orf43", "protein_names_uniprotkb": "Uncharacterized protein C9orf43", "protein_names_refseq": "uncharacterized protein C9orf43 isoform 1; uncharacterized protein C9orf43", "tax_id": 9606, "disease": "", "pathway": " (hsa:257169)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "17924679;20583170;26811146;31844290;34087483;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8TAL5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDQ1-1", "uniprot_id": [ { "id": "CLM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDQ1", "type": "external" } ], "mass": 32335.0, "length": 290, "protein_name": "CMRF35-like molecule 1", "gene_name": "CD300LF", "organism": "Human", "refseq_name": "CMRF35-like molecule 1 isoform 2", "refseq_ac": [ { "id": "NP_001276011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276011", "type": "external" } ], "gene_names_uniprotkb": "CD300LF; CD300F; CLM1; IGSF13; IREM1; NKIR; PRO10111", "gene_names_refseq": "CD300LF; CD300f; CLM-1; CLM1; IREM-1; IREM1; IgSF13; LMIR3; NKIR", "protein_names_uniprotkb": "CMRF35-like molecule 1; CD300 antigen-like family member F; CLM-1; IREM-1; IgSF13; Immune receptor expressed on myeloid cells 1; Immunoglobulin superfamily member 13; NK inhibitory receptor", "protein_names_refseq": "CD300 antigen-like family member F; CMRF35-like molecule 1 isoform 2; CMRF35-like molecule 1; NK inhibitory receptor; immune receptor expressed on myeloid cells 1; immunoglobin superfamily member 13; immunoglobulin superfamily member 13; inhibitory receptor IREM1", "tax_id": 9606, "disease": "", "pathway": " (hsa:146722); (R-HSA-198933)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10499918;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12975309;14719373;14970179;15034010;15136729;15155468;15184070;15187158;15304001;15340161;15534202;15541655;15549731;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17202342;17237375;17275839;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22043923;22396535;23695528;23929856;24035150;24305946;25703557;25716998;26284469;26300885;30459171;32152116;32387766;32983136;33091337;33392160;33548578;35051231;37217939;37302321;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "A novel inhibitory receptor of the Ig superfamily in myeloid cells. (IREM-1 = immune receptor expressed on myeloid cells-1), [RefSeq, PubMed]; Acts as an inhibitory receptor for myeloid cells and mast cells (PubMed:15549731). Positively regulates the phagocytosis of apoptotic cells (efferocytosis) via phosphatidylserine (PS) recognition; recognizes and binds PS as a ligand which is expressed on the surface of apoptotic cells. Plays an important role in the maintenance of immune homeostasis, by promoting macrophage-mediated efferocytosis and by inhibiting dendritic cell-mediated efferocytosis (By similarity). Negatively regulates Fc epsilon receptor-dependent mast cell activation and allergic responses via binding to ceramide and sphingomyelin which act as ligands (PubMed:24035150). May act as a coreceptor for interleukin 4 (IL-4). Associates with and regulates IL-4 receptor alpha-mediated responses by augmenting IL-4- and IL-13-induced signaling (By similarity). Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 and TRIF through activation of PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:22043923). Inhibits osteoclast formation. Induces macrophage cell death upon engagement (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; CD300a and CD300f molecules regulate the function of leukocytes. Review article, [RefSeq, PubMed]; CD300f signalling induces inhibitory human monocytes/macrophages., [RefSeq, PubMed]; IgSF13 was identified from dendritic cells; preferentially expressed in myelo-monocytic cells, including monocytes, monocyte-derived DC and monocyte-related cell lines; may be involved in the negative regulation of specific leukocyte population [IgSF13], [RefSeq, PubMed]; Reveal a putative functional duality of the IREM-1 myeloid cell receptor, [RefSeq, PubMed]; Single-nucleotide polymorphism in CD300f gene is associated with major depressive disorder., [RefSeq, PubMed]; This gene encodes a member of the CD300 protein family. Members of this family are cell surface glycoproteins with a single IgV-like extracellular domain, and are involved in the regulation of immune response. The encoded protein is an inhibitory receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RCL2;C9JDN3;Q3Y6P0;Q6UX24;Q7Z6A6;Q7Z7I4;Q7Z7I5;Q8N6D0;Q8NAF5", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding;GO:0001786 phosphatidylserine binding;GO:0097001 ceramide binding;GO:0005136 interleukin-4 receptor binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0034125 negative regulation of MyD88-dependent toll-like receptor signaling pathway;GO:0035772 interleukin-13-mediated signaling pathway;GO:1902216 positive regulation of interleukin-4-mediated signaling pathway;GO:2000426 negative regulation of apoptotic cell clearance;GO:0002757 immune response-activating signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q8TDQ1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DG6-1", "uniprot_id": [ { "id": "CMBL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DG6", "type": "external" } ], "mass": 28048.0, "length": 245, "protein_name": "Carboxymethylenebutenolidase homolog", "gene_name": "CMBL", "organism": "Human", "refseq_name": "carboxymethylenebutenolidase homolog", "refseq_ac": [ { "id": "NP_620164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620164", "type": "external" } ], "gene_names_uniprotkb": "CMBL", "gene_names_refseq": "CMBL; JS-1", "protein_names_uniprotkb": "Carboxymethylenebutenolidase homolog; 3.1.-.-", "protein_names_refseq": "carboxymethylenebutenolidase homolog (Pseudomonas); carboxymethylenebutenolidase homolog; carboxymethylenebutenolidase-like (Pseudomonas)", "tax_id": 9606, "disease": "", "pathway": " (hsa:134147); (R-HSA-211945)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10445380;10945627;11154734;11422004;12725862;12732646;1351198;15350128;15492766;15523003;15535985;16614850;16765324;17400359;18254726;18256025;18285471;19053771;19588076;19608861;19764817;20007405;20177059;20422440;20542992;22700792;22813719;23301498;23481700;23616950;23946449;23953689;24275569;24423752;24677340;24900196;25144769;25425164;25446851;25892735;25923589;26375851;27600516;28832583;2897122;29393594;29508533;29557506;29769354;29786170;30484775;31154438;31844290;32152082;32157095;32171872;32187464;32205870;32210741;32350084;32502341;33214551;33717175;35051231;35251023;35580925;36215666;36241641;36284347;37967006;7980644;8985016;9169443;9367528;9653080", "class_list": "", "function": "By comparing the enzyme kinetics and chemical inhibition properties between the recombinant protein and tissue preparations, CMBL was shown to be the primary olmesartan medoxomil bioactivating enzyme in the liver and intestine., [RefSeq, PubMed]; CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 [PubMed 20177059]).[supplied by OMIM, Apr 2010]., [RefSeq]; Cysteine hydrolase whose endogenous substrates and physiological function are unknown. Catalyzes the hydrolytic activation of several ester-based prodrugs, by cleaving the dioxolone ring to yield their respective active metabolites, diacetyl and CO2. Can thus convert the prodrugs Olmesartan medoxomil and Azilsartan medoxomil into their active metabolites (Olmesartan and Azilsartan), two angiotensin receptor blockers. Is also able to activate beta-lactam antibiotics Faropenem medoxomil and Lenampicillin., [UniProtKB, PubMed, PubMed]; P53-responsive CMBL reprograms glucose metabolism and suppresses cancer development by destabilizing phosphofructokinase PFKP., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DTC7;Q8TED6", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q96DG6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N53-1", "uniprot_id": [ { "id": "CK037_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N53", "type": "external" } ], "mass": 15424.0, "length": 147, "protein_name": "Putative uncharacterized protein encoded by LINC00167", "gene_name": "PRDM10-DT", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRDM10-DT; C11orf37; LINC00167; NCRNA00167", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00167; PRDM10-DT divergent transcript", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "30379171;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RP80", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96N53-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NY7-1", "uniprot_id": [ { "id": "CLIC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NY7", "type": "external" } ], "mass": 73012.0, "length": 704, "protein_name": "Chloride intracellular channel protein 6", "gene_name": "CLIC6", "organism": "Human", "refseq_name": "chloride intracellular channel protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001303938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303938", "type": "external" } ], "gene_names_uniprotkb": "CLIC6; CLIC1L", "gene_names_refseq": "CLIC1L; CLIC6", "protein_names_uniprotkb": "Chloride intracellular channel protein 6; 1.8.-.-; Glutaredoxin-like oxidoreductase CLIC6; Parchorin", "protein_names_refseq": "chloride channel form A; chloride intracellular channel 6; chloride intracellular channel protein 6 isoform 1; chloride intracellular channel protein 6; glutaredoxin-like oxidoreductase CLIC6; parchorin", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); endometrial cancer (Disease Ontology:DOID:1380); alcohol use disorder (Disease Ontology:DOID:1574); hepatitis C (Disease Ontology:DOID:1883); endodermal sinus tumor (Disease Ontology:DOID:1911); hepatitis (Disease Ontology:DOID:2237); teratocarcinoma (Disease Ontology:DOID:3305); embryonal carcinoma (Disease Ontology:DOID:3308); renal cell carcinoma (Disease Ontology:DOID:4450); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:54102)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "12226712;14597386;18991276;19834535;23481700;25502872;29242379;29508533;29557506;30429286;31154438;31844290;31848261;33717175;33968037;34932366;35051231;35580925;37838179", "class_list": "", "function": "In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor (By similarity). Can insert into membranes and form voltage-dependent chloride-selective channels. The channel opens upon membrane depolarization at positive voltages and closes at negative membrane voltages (PubMed:37838179). May play a critical role in water-secreting cells, possibly through the regulation of chloride ion transport (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0U8;Q8IX31", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0031751 D4 dopamine receptor binding;GO:0016491 oxidoreductase activity;GO:0005254 chloride channel activity;GO:0031749 D2 dopamine receptor binding;GO:0031750 D3 dopamine receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0034707 chloride channel complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96NY7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RK1-1", "uniprot_id": [ { "id": "CITE4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RK1", "type": "external" } ], "mass": 18569.0, "length": 184, "protein_name": "Cbp/p300-interacting transactivator 4", "gene_name": "CITED4", "organism": "Human", "refseq_name": "cbp/p300-interacting transactivator 4", "refseq_ac": [ { "id": "NP_597724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_597724", "type": "external" } ], "gene_names_uniprotkb": "CITED4; MRG2", "gene_names_refseq": "CITED4", "protein_names_uniprotkb": "Cbp/p300-interacting transactivator 4; MRG-2; MSG1-related protein 2", "protein_names_refseq": "Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4; MRG-2; MSG1-related protein 2; cbp/p300-interacting transactivator 4; transcriptional co-activator 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:163732); (R-HSA-8866907)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11694877;11744733;12586840;15342390;15548692;15572674;16698963;17311001;18722883;1998122;2010091;21755341;23481700;25576301;26243458;26992070;27397612;28832583;28904123;29098625;29393594;29557506;29786170;30429286;30833945;31154438;31848261;32161166;32387766;32938616;33141586;33392160;33759374;33968037;34087483;34171305;34509645;35051231;36215666", "class_list": "", "function": "Acts as a transcriptional coactivator for TFAP2/AP-2. Enhances estrogen-dependent transactivation mediated by estrogen receptors. May function as an inhibitor of transactivation by HIF1A by disrupting HIF1A interaction with CREBBP. May be involved in regulation of gene expression during development and differentiation of blood cells, endothelial cells and mammary epithelial cells., [UniProtKB, PubMed, PubMed]; CITED4 enhances the metastatic potential of lung adenocarcinoma., [RefSeq, PubMed]; CITED4 functions as a transactivator when artificially targeted to a promoter element. CITED4 physically interacts with all TFAP2 isoforms in vitro and strongly co-activates all TFAP2 isoforms in Hep3B cells., [RefSeq, PubMed]; CITED4 is epigenetically silenced in the vast majority of oligodendroglial tumours with 1p and 19q deletions., [RefSeq, PubMed]; Demethylation and histone modification can potentially reactivate CITED4 gene expression in some breast cancers and lead to changes in tumour behaviour., [RefSeq, PubMed]; Mutational study of CITED4 in 24 glial tumors (22 primary glioblastomas, 1 low-grade astrocytoma & its recurrent secondary glioblastoma), [RefSeq, PubMed]; Results show that breast cancer development is characterized by either nuclear loss or cytoplasmic translocation of CITED4, with consequent loss of hypoxia-inducible factor-1alpha transcriptional antagonist activity., [RefSeq, PubMed]; Studies indicate that CCAAT enhancer binding protein beta (C/EBPB)-transcription factor CITED4 (CITED4) signaling is a pathway in cardioprotection mediating benefits of exercise in heart., [RefSeq, PubMed]; The interaction and functional cooperation between FHL2, CITED4, and CTNNB were studied., [RefSeq, PubMed]; The protein encoded by this intronless gene belongs to the CITED family of transcriptional coactivators that bind to several proteins, including CREB-binding protein (CBP) and p300, via a conserved 32 aa C-terminal motif, and regulate gene transcription. This protein also interacts with transcription factor AP2 (TFAP2), and thus may function as a co-activator for TFAP2. Hypermethylation and transcriptional downregulation of this gene has been observed in oligodendroglial tumors with deletions of chromosomal arms 1p and 19q, and associated with longer recurrence-free and overall survival of patients with oligodendroglial tumors. [provided by RefSeq, Aug 2011]., [RefSeq]; Upregulation of CITED4 is associated with colorectal cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0043627 response to estrogen", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q96RK1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BT09-1", "uniprot_id": [ { "id": "CNPY3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BT09", "type": "external" } ], "mass": 30748.0, "length": 278, "protein_name": "Protein canopy homolog 3", "gene_name": "CNPY3", "organism": "Human", "refseq_name": "protein canopy homolog 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_006577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006577", "type": "external" } ], "gene_names_uniprotkb": "CNPY3; CTG4A; ERDA5; HSPC084; PRAT4A; PRO4409; TNRC5", "gene_names_refseq": "CAG4A; CNPY3; DEE60; EIEE60; ERDA5; PRAT4A; TNRC5", "protein_names_uniprotkb": "Protein canopy homolog 3; CTG repeat protein 4a; Expanded repeat-domain protein CAG/CTG 5; Protein associated with TLR4; Trinucleotide repeat-containing gene 5 protein", "protein_names_refseq": "CAG repeat containing; CTG repeat protein 4a; expanded repeat-domain protein CAG/CTG 5; protein associated with TLR4; protein associated with Toll-like receptor 4A; protein canopy homolog 3 isoform 1 precursor; protein canopy homolog 3; trinucleotide repeat-containing gene 5 protein", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 60 (Disease Ontology:DOID:0080432)", "pathway": " (hsa:10695); (R-HSA-1679131)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;12975309;14716310;15226270;16415873;16857668;16973841;17275357;17452530;18082565;18166152;18305481;18509083;18820679;18931679;19079358;19159218;19451267;19965672;20855885;20865800;21398612;21402738;21604257;22164301;22223641;22645359;22661428;23481700;23584533;24190977;25418920;25813380;25880248;26154972;26992070;28904123;29394991;29437277;29493099;29557506;29741879;30410026;30429286;31217245;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33123756;33141586;33912179;33968037;34509645;34561969;35051231;35132862;35138101;35251023;35318648;35334124;35580925;36284347;36931208;37074911;38665916;39534244;40307207;40596516;8344253;9225980;9799232", "class_list": "", "function": "A novel rare variant of CNPY3 from familial NMOSD impairs the TLR-mediated immune response., [RefSeq, PubMed]; The TLR-chaperone CNPY3 is a critical regulator of NLRP3-inflammasome activation., [RefSeq, PubMed]; This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]., [RefSeq]; Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O15412;Q0P6I2;Q8NF54;Q8WTU8;Q9P0F2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9BT09-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2U6-1", "uniprot_id": [ { "id": "CO005_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2U6", "type": "external" } ], "mass": 11474.0, "length": 94, "protein_name": "Putative uncharacterized protein encoded by LINC00597", "gene_name": "LINC00597", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00597; C15orf5", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00597", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11697146", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3SY27;Q9UMC1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9H2U6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6B4-1", "uniprot_id": [ { "id": "CLMP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6B4", "type": "external" } ], "mass": 41281.0, "length": 373, "protein_name": "CXADR-like membrane protein", "gene_name": "CLMP", "organism": "Human", "refseq_name": "CXADR-like membrane protein precursor", "refseq_ac": [ { "id": "NP_079045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079045", "type": "external" } ], "gene_names_uniprotkb": "CLMP; ACAM; ASAM; PRO363", "gene_names_refseq": "ACAM; ASAM; CLMP; CSBM; CSBS", "protein_names_uniprotkb": "CXADR-like membrane protein; Adipocyte adhesion molecule; CAR-like membrane protein; Coxsackie- and adenovirus receptor-like membrane protein", "protein_names_refseq": "CAR-like membrane protein; CXADR like membrane protein; CXADR-like membrane protein precursor; adipocyte-specific adhesion molecule; coxsackie- and adenovirus receptor-like membrane protein", "tax_id": 9606, "disease": "short bowel syndrome (Disease Ontology:DOID:10605); congenital short bowel syndrome, autosomal recessive (MONDO:MONDO:0020718)", "pathway": " (hsa:79827)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;12851705;12975309;14573622;15563274;18578522;22155368;23090970;24190977;25576301;27720179;28489076;28832583;29393594;29741879;29786170;30429286;31530632;31844290;32161166;32938616;32983136;34087483;35051231;36241608;37074911;37716376", "class_list": "", "function": "ASAM, IGSF11, CXADR and ESAM are type I transmembrane proteins and members of the same IGSF superfamily., [RefSeq, PubMed]; CLMP Promotes Leukocyte Migration Across Brain Barriers in Multiple Sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; CLMP is a novel cell-cell adhesion molecule and a new component of epithelial tight junctions., [RefSeq, PubMed]; CXADR-Like Membrane Protein Regulates Colonic Epithelial Cell Proliferation and Prevents Tumor Growth., [RefSeq, PubMed]; May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015]., [RefSeq]; We describe a newborn presenting CSBS intestinal malrotation and chronic intestinal pseudo-obstruction syndrome (CIPS), compound heterozygous for two previously unreported heterozygous mutations in Coxsackie and adenovirus receptor-like membrane protein (CLMP) gene. We identified two heterozygous mutations in CLMP, one in intron 1 (c.28+1G>C) from the father, the other on exon 4 (c502C>T, p.R168X) from the mother., [RefSeq, PubMed]; We identified ACAM (adipocyte adhesion molecule), a novel homologue of the CTX (cortical thymocyte marker in Xenopus) gene family, which may be the critical adhesion molecule in adipocyte differentiation and development of obesity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005923 bicellular tight junction;GO:0009986 cell surface;GO:0045211 postsynaptic membrane;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0048565 digestive tract development;GO:0099170 postsynaptic modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9H6B4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8M5-1", "uniprot_id": [ { "id": "CNNM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8M5", "type": "external" } ], "mass": 96623.0, "length": 875, "protein_name": "Metal transporter CNNM2", "gene_name": "CNNM2", "organism": "Human", "refseq_name": "metal transporter CNNM2 isoform 1", "refseq_ac": [ { "id": "NP_060119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060119", "type": "external" } ], "gene_names_uniprotkb": "CNNM2; ACDP2", "gene_names_refseq": "ACDP2; CNNM2; HOMG6; HOMGSMR; SLC70A2", "protein_names_uniprotkb": "Metal transporter CNNM2; Ancient conserved domain-containing protein 2; Cyclin-M2", "protein_names_refseq": "ancient conserved domain-containing protein 2; cyclin M2; metal transporter CNNM2 isoform 1; metal transporter CNNM2", "tax_id": 9606, "disease": "renal hypomagnesemia 6 (Disease Ontology:DOID:0060884); schizophrenia (Disease Ontology:DOID:5419); hypomagnesemia, seizures, and intellectual disability 1 (MONDO:MONDO:0020787)", "pathway": " (hsa:54805)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;12657465;20519162;21397062;22399287;23186163;24190977;24699222;28228285;28514659;28832583;28904123;29242379;29393594;30315122;31020640;31844290;32265295;32350084;32488085;32997713;33298915;33592498;33600043;33936100;33968037;34357683;34561969;35051231;35580925;37074911;37715107;38519529", "class_list": "", "function": "ACDP2 splice-variant 1 is a functional Mg2+-transporting entity per se., [RefSeq, PubMed]; Decreased CNNM2 expression in prefrontal cortex affects sensorimotor gating function, cognition, dendritic spine morphogenesis and risk of schizophrenia., [RefSeq, PubMed]; Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity)., [UniProtKB, UniProtKB]; Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants. Publication Status: Online-Only, [RefSeq, PubMed]; Novel variant in the CNNM2 gene associated with dominant hypomagnesemia. Publication Status: Online-Only, [RefSeq, PubMed]; The CNNM2 locus is associated with serum Mg(2+) concentrations., [RefSeq, PubMed]; The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)., [RefSeq, PubMed]; This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 9, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5T569;Q5T570;Q8WU59;Q9H952;Q9NRK5;Q9NXT4", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0015095 magnesium ion transmembrane transporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0010960 magnesium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9H8M5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9A5-1", "uniprot_id": [ { "id": "CNO10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9A5", "type": "external" } ], "mass": 82310.0, "length": 744, "protein_name": "CCR4-NOT transcription complex subunit 10", "gene_name": "CNOT10", "organism": "Human", "refseq_name": "CCR4-NOT transcription complex subunit 10 isoform 2", "refseq_ac": [ { "id": "NP_001243670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243670", "type": "external" } ], "gene_names_uniprotkb": "CNOT10", "gene_names_refseq": "CNOT10", "protein_names_uniprotkb": "CCR4-NOT transcription complex subunit 10", "protein_names_refseq": "CCR4-NOT transcription complex subunit 10 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25904); (R-HSA-429947); (R-HSA-6804115); (R-HSA-9820841)", "pathway_count": 4, "publication_count": 97, "publication_id_list": "10637334;10882133;11237011;11283721;11814693;11889047;11896574;12897130;1355481;14583602;14749774;14968113;15475613;15713436;16140933;16141059;16160013;16284618;17052452;17146433;17245413;17595167;18337750;18625844;19239894;19276069;19558367;20352051;20531387;22252318;23221646;23232451;23236473;23301498;23303381;23481700;24715725;25418920;25480299;25576301;25802875;25880248;25892735;26992070;27846572;27893789;27920218;28063628;28228285;28446606;28514659;28832583;28904123;29242379;29393594;29557506;29632046;29769354;29789417;30315122;30379171;30524438;30779550;30833945;31217245;31844290;31998317;32157095;32161166;32357974;32387766;32502391;32897882;32938616;32983136;33298915;33592498;33912179;33936100;33968037;33981976;34019948;34357683;34561969;34647228;35132862;35289036;35561310;35580925;36010968;36241641;36284347;8944033;9099687;9184226;9671765;9712883", "class_list": "", "function": "Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is not required for association of CNOT7 to the CCR4-NOT complex., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z7L1;F8WAF2;Q9BU30;Q9H5J7;Q9H8X1;Q9H9W0;Q9HAH3;Q9UFJ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane;GO:0030014 CCR4-NOT complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0017148 negative regulation of translation;GO:0006402 mRNA catabolic process;GO:0031047 regulatory ncRNA-mediated gene silencing;GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9H9A5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWQ9-1", "uniprot_id": [ { "id": "CN119_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWQ9", "type": "external" } ], "mass": 16009.0, "length": 140, "protein_name": "Uncharacterized protein C14orf119", "gene_name": "C14orf119", "organism": "Human", "refseq_name": "uncharacterized protein C14orf119", "refseq_ac": [ { "id": "NP_060394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060394", "type": "external" } ], "gene_names_uniprotkb": "C14orf119; My028", "gene_names_refseq": "C14orf119", "protein_names_uniprotkb": "Uncharacterized protein C14orf119", "protein_names_refseq": "My028 protein; uncharacterized protein C14orf119", "tax_id": 9606, "disease": "", "pathway": " (hsa:55017)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "15004565;18991276;21136679;21872626;21993680;22361696;23481700;24714562;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26992070;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29437277;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32357974;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33968037;33981976;34087483;34171305;34185709;34510374;35051231;35580925;36010968;36241641;36284347", "class_list": "", "function": "Influence of the rs6736 Polymorphism on Ischemic Stroke Susceptibility in Han Chinese Individuals via the Disruption of miR-7-1 Binding to the C14orf119 Gene., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IAA7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9NWQ9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P218-1", "uniprot_id": [ { "id": "COKA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P218", "type": "external" } ], "mass": 135830.0, "length": 1284, "protein_name": "Collagen alpha-1(XX) chain", "gene_name": "COL20A1", "organism": "Human", "refseq_name": "collagen alpha-1(XX) chain precursor", "refseq_ac": [ { "id": "NP_065933", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065933", "type": "external" } ], "gene_names_uniprotkb": "COL20A1; KIAA1510", "gene_names_refseq": "COL20A1", "protein_names_uniprotkb": "Collagen alpha-1(XX) chain", "protein_names_refseq": "collagen alpha-1(XX) chain precursor; collagen alpha-1(XX) chain; collagen, type XX, alpha 1; collagen-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57642); (R-HSA-1650814); (R-HSA-8948216)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10479448;10934207;11237011;12473679;12475640;12646579;1323838;14500733;15044469;1577494;16591531;171650;18487197;19075007;19693541;20470363;21878990;21967573;24715725;2543975;25645385;29557506;29934816;31154438;31637018;3173483;31844290;35051231;35456962;37938771;3905801;3938630;6307276;6809411;710450;9054364;9545296;9560306;9582318", "class_list": "", "function": "Our study proposes COL20A1 gene as another potential candidate gene for striate palmoplantar keratoderma (PPKS)which expand the spectrum of collagen proteins in the pathogenicity of Palmoplantar keratoderma., [RefSeq, PubMed]; Probable collagen protein., [UniProtKB]; Type XX Collagen Is Elevated in Circulation of Patients with Solid Tumors. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q4VXQ4;Q6PI59;Q8WUT2;Q96CY9;Q9BQU6;Q9BQU7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:1990319 collagen type XX trimer", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9P218-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2X8-1", "uniprot_id": [ { "id": "CI027_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2X8", "type": "external" } ], "mass": 7854.0, "length": 69, "protein_name": "Putative uncharacterized protein encoded by LINC00474", "gene_name": "LINC00474", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00474; C9orf27", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00474; Protein EST-YD1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "10492169;40136647", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q08EI2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9P2X8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBF2-1", "uniprot_id": [ { "id": "COPG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBF2", "type": "external" } ], "mass": 97622.0, "length": 871, "protein_name": "Coatomer subunit gamma-2", "gene_name": "COPG2", "organism": "Human", "refseq_name": "coatomer subunit gamma-2 isoform 2", "refseq_ac": [ { "id": "NP_001276962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276962", "type": "external" } ], "gene_names_uniprotkb": "COPG2", "gene_names_refseq": "2-COP; COPG2; gamma-2-COP", "protein_names_uniprotkb": "Coatomer subunit gamma-2; Gamma-2-COP; Gamma-2-coat protein", "protein_names_refseq": "COPI coat complex subunit gamma 2; coat protein, nonclathrin, gamma-2-cop; coatomer protein complex subunit gamma 2; coatomer subunit gamma-2 isoform 2; coatomer subunit gamma-2; gamma-2-coat protein; testicular secretory protein Li 12", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); paroxysmal nocturnal hemoglobinuria (Disease Ontology:DOID:0060284); adult respiratory distress syndrome (Disease Ontology:DOID:11394); factor VIII deficiency (Disease Ontology:DOID:12134); neutropenia (Disease Ontology:DOID:1227); cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); brain edema (Disease Ontology:DOID:4724); liver cirrhosis (Disease Ontology:DOID:5082); pneumonia (Disease Ontology:DOID:552); complement component 5 deficiency (Disease Ontology:DOID:8158)", "pathway": " (hsa:26958); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 205, "publication_id_list": "10052452;10318838;10445031;10556286;10559959;10679020;10761932;10903204;10921873;11035033;11056392;11172815;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12634853;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17074750;17113389;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18452278;18491316;18524849;18809720;1898986;19015319;19109418;19151722;19164740;19296914;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;22013193;22094269;22304919;22424782;22456293;22898188;23396477;23481700;23783831;23839779;24119662;24715725;24806965;25129144;25364732;25418920;25436559;25492864;25576301;25645385;25810538;25880248;26154972;26728094;26768311;26992070;27600516;27846572;28063628;28218747;28228285;28411811;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32583741;32897882;32938616;33141586;33298915;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;38665916;40914422;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes., [RefSeq, PubMed]; SCYL1 arginine methylation by PRMT1 is essential for neurite outgrowth via Golgi morphogenesis., [RefSeq, PubMed]; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NH74;Q2NLA0;Q54AC3;Q8WVW8", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0030426 growth cone;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0009306 protein secretion;GO:0072384 organelle transport along microtubule", "synthesized_glycan_count": 0, "hit_score": 20.8, "record_id": "Q9UBF2-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UP83-2", "uniprot_id": [ { "id": "COG5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UP83", "type": "external" } ], "mass": 94901.0, "length": 860, "protein_name": "Conserved oligomeric Golgi complex subunit 5", "gene_name": "COG5", "organism": "Human", "refseq_name": "conserved oligomeric Golgi complex subunit 5 isoform 3", "refseq_ac": [ { "id": "NP_001154992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154992", "type": "external" } ], "gene_names_uniprotkb": "COG5; GOLTC1; GTC90", "gene_names_refseq": "CDG2I; COG5; GOLTC1; GTC90", "protein_names_uniprotkb": "Conserved oligomeric Golgi complex subunit 5; 13S Golgi transport complex 90 kDa subunit; COG complex subunit 5; Component of oligomeric Golgi complex 5; GTC-90; Golgi transport complex 1", "protein_names_refseq": "13S golgi transport complex 1 90 kDa subunit; COG complex subunit 5; conserved oligomeric Golgi complex protein 5; conserved oligomeric Golgi complex subunit 5 isoform 3", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIi (Disease Ontology:DOID:0070261)", "pathway": " (hsa:10466); (R-HSA-6807878); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 4, "publication_count": 221, "publication_id_list": "10052452;10189370;10209123;10318838;10358176;10445031;10559959;10637310;10652308;10652516;10679020;10761932;10865125;10903204;10921873;10990452;11035033;11172815;11285137;11303027;11306556;11346801;11359012;11461920;11689439;11689559;11703931;11718716;11726511;11748249;11827983;11839770;11929878;12011112;12047556;12070132;12377769;12383348;12388752;12429822;12620188;12620189;12634853;14580338;14654841;14718928;14742712;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16129887;1631136;16571679;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17253781;17274799;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18086915;18088087;18182008;18195106;18243103;18256213;18283113;18367545;18451304;18524849;18664496;18691976;18809720;18946081;1898986;18991276;19015319;19109418;19164740;19296914;19490898;19536132;1957170;19620288;19631211;19690088;19715559;19758564;20163571;20357002;20427317;20637885;20685960;20874812;21183348;21219331;21421921;21436057;21689688;21807881;21844168;22013193;22094269;22188167;22304919;22335553;22354037;22544926;22581368;22717455;23091056;23186163;23239882;23378023;23437303;23462996;23481700;23839779;23936529;23940353;24119662;24794632;24806965;25343031;25418920;25436559;25492864;25645385;25708460;25892735;26375851;26992070;27600516;27920218;28063628;28228285;28832583;29093164;29242379;29393594;29508533;29632046;29632711;29671580;29786170;30315122;30524438;31154438;31530632;31844290;31848261;33187827;33277529;35494241;37938771;7691276;7909812;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8670882;8945478;8991093;9050864;9114004;9150144;9177194;9230071;9244307;9288971;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9653114;9671725;9707577;9751720;9792665;9915833;9990005", "class_list": "glycogene", "function": "COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage. Publication Status: Online-Only, [RefSeq, PubMed]; Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype., [RefSeq, PubMed]; Required for normal Golgi function., [UniProtKB, UniProtKB]; Sec34 is implicated in traffic from the endoplasmic reticulum to the Golgi and exists in a complex with GTC-90 and ldlBp, [RefSeq, PubMed]; The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 240, "reported_interactions": 0, "missing_score": 8796, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D0R6;A4D0R7;O14555;O95008;Q6NUL5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0015031 protein transport;GO:0007030 Golgi organization;GO:0000301 retrograde transport, vesicle recycling within Golgi;GO:0006891 intra-Golgi vesicle-mediated transport;GO:0048219 inter-Golgi cisterna vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 22.5, "record_id": "Q9UP83-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2V0-1", "uniprot_id": [ { "id": "CDIN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2V0", "type": "external" } ], "mass": 32264.0, "length": 281, "protein_name": "CDAN1-interacting nuclease 1", "gene_name": "CDIN1", "organism": "Human", "refseq_name": "CDAN1-interacting nuclease 1 isoform 1", "refseq_ac": [ { "id": "NP_001123482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123482", "type": "external" } ], "gene_names_uniprotkb": "CDIN1; C15orf41", "gene_names_refseq": "C15orf41; CDIN1; HH114", "protein_names_uniprotkb": "CDAN1-interacting nuclease 1; Protein HH114", "protein_names_refseq": "CDAN1-interacting nuclease 1 isoform 1; uncharacterized protein C15orf41", "tax_id": 9606, "disease": "congenital dyserythropoietic anemia type Ib (Disease Ontology:DOID:0111397)", "pathway": " (hsa:84529)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;23186163;23716552;24714562;25418920;25576301;25880248;25892735;26728094;26992070;27600516;27846572;28218747;28228285;28832583;28834231;28904123;29031773;29242379;29393594;29437277;29557506;29769354;29885034;30315122;30410026;30484775;31191338;31217245;31844290;32157095;32293259;32357974;32387766;32518175;32897882;33159567;33691108;33717175;33912179;33936100;33968037;34171305;34561969;34932366;35051231;35580925;36215666;36241641;36581221", "class_list": "", "function": "Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease. Publication Status: Online-Only, [RefSeq, PubMed]; Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene., [RefSeq, PubMed]; Genetic and functional insights into CDA-I prevalence and pathogenesis., [RefSeq, PubMed]; Mutation in C!%ORF41 gene is associated with congenital dyserythropoietic anemia., [RefSeq, PubMed]; Plays a role in erythroid cell differentiation., [UniProtKB, PubMed]; This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RD87", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0030218 erythrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9Y2V0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12109-1", "uniprot_id": [ { "id": "CO6A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P12109", "type": "external" } ], "mass": 108529.0, "length": 1028, "protein_name": "Collagen alpha-1(VI) chain", "gene_name": "COL6A1", "organism": "Human", "refseq_name": "collagen alpha-1(VI) chain precursor", "refseq_ac": [ { "id": "NP_001839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001839", "type": "external" } ], "gene_names_uniprotkb": "COL6A1", "gene_names_refseq": "BTHLM1A; BTHLM1; COL6A1; OPLL; UCHMD1A; UCHMD1", "protein_names_uniprotkb": "Collagen alpha-1(VI) chain", "protein_names_refseq": "alpha 1 (VI) chain (61 AA); collagen VI, alpha-1 polypeptide; collagen alpha-1(VI) chain precursor; collagen alpha-1(VI) chain; collagen, type VI, alpha 1; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "congenital muscular dystrophy (Disease Ontology:DOID:0050557); Ullrich congenital muscular dystrophy (Disease Ontology:DOID:0050558); tooth agenesis (Disease Ontology:DOID:0050591); Bethlem myopathy (Disease Ontology:DOID:0050663); juvenile polyposis syndrome (Disease Ontology:DOID:0050787); Ullrich congenital muscular dystrophy 1A (Disease Ontology:DOID:0060946); short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (Disease Ontology:DOID:0060989); Bethlem myopathy 1A (Disease Ontology:DOID:0061198); brachydactyly type A2 (Disease Ontology:DOID:0110965); hemochromatosis type 1 (Disease Ontology:DOID:0111029); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); hypertension (Disease Ontology:DOID:10763); osteoporosis (Disease Ontology:DOID:11476); otosclerosis (Disease Ontology:DOID:12185); Marfan syndrome (Disease Ontology:DOID:14323); osteoarthritis (Disease Ontology:DOID:8398); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:1291); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-186797); (R-HSA-2022090); (R-HSA-216083); (R-HSA-3000178); (R-HSA-419037); (R-HSA-8948216)", "pathway_count": 9, "publication_count": 281, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10049780;10209034;10339611;10366422;10438935;10479448;10508235;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11084047;11119712;11158588;11237011;11259413;11518510;11572855;11577169;11713259;11865138;11927537;11980922;12225811;12369853;12473679;12475640;12482924;12496264;12538485;12579531;12585966;12646579;12682293;12765789;12807887;1311092;1323838;1376317;1400327;14500733;14602708;14715956;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15615512;15689448;15713743;15767546;1577494;15837520;1588291;15899827;15950618;15955946;16002701;16051604;16130093;16239428;16267048;16293224;16331269;1639841;16436588;16474853;16493581;16591531;16731529;16754661;16825197;16933105;1704217;17088321;171650;17339034;17367763;17588949;17604334;1765372;17785674;17943726;17968485;18059411;18487197;18559524;18622425;18710925;18775695;19075007;19159218;19502598;19564526;19693541;20033473;2005102;2010551;20470363;2059554;20705068;20813817;21251937;21376233;21593211;21642437;2169335;21789315;21878990;21935455;21967573;22134916;22241472;22382088;2253219;22539938;22884367;22905912;22933705;2307289;23090970;23271734;23374253;23583652;2364322;2412224;24190977;2420006;2430969;25328409;2537292;2543975;2548603;2551668;2551898;25576301;25597754;25645385;26154972;26992070;27846572;27862975;2809592;2834383;28435517;2845110;28834231;29093181;29137923;29263244;29408302;29557506;29741879;29786170;29789417;29964125;30345904;3038863;30389923;30459171;30856553;31085175;31154438;3173483;31844290;31848261;3198591;32157095;3223920;32350084;32373127;32387766;32897882;32938616;32983136;33141586;3348212;33592498;33968037;34171305;34509645;35051231;35251023;35318648;35580925;36010968;36044599;36284347;3665927;36809953;36982625;37074911;37315421;37938771;38653581;38665916;3905801;3938630;40930100;6193777;6258630;6270089;6307276;6439184;6694361;6809411;6852033;710450;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7852349;7890717;8002934;8118028;8168508;8207089;8262246;8344274;8440685;8463259;8560266;8576151;8782832;8798654;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9107679;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9443892;9545296;9560306;9565552;9582318;9651395;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "Collagen VI acts as a cell-binding protein., [UniProtKB]; Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure., [RefSeq, PubMed]; Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. Publication Status: Online-Only, [RefSeq, PubMed]; Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy., [RefSeq, PubMed]; Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study., [RefSeq, PubMed]; The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 82, "disease_count": 18, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O00117;O00118;Q14040;Q14041;Q16258;Q7Z645;Q9BSA8", "ec_number_list": [], "go_molecular_function": "GO:0005518 collagen binding;GO:0030020 extracellular matrix structural constituent conferring tensile strength;GO:0048407 platelet-derived growth factor binding", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion;GO:0048741 skeletal muscle fiber development;GO:0001649 osteoblast differentiation;GO:0035987 endodermal cell differentiation", "synthesized_glycan_count": 0, "hit_score": 37.2, "record_id": "P12109-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5YM72-1", "uniprot_id": [ { "id": "CRNS1_HUMAN", "url": "https://www.uniprot.org/uniprot/A5YM72", "type": "external" } ], "mass": 88484.0, "length": 827, "protein_name": "Carnosine synthase 1", "gene_name": "CARNS1", "organism": "Human", "refseq_name": "carnosine synthase 1 isoform 1", "refseq_ac": [ { "id": "NP_001159694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159694", "type": "external" } ], "gene_names_uniprotkb": "CARNS1; ATPGD1; KIAA1394", "gene_names_refseq": "ATPGD1; CARNS1", "protein_names_uniprotkb": "Carnosine synthase 1; 6.3.2.11; ATP-grasp domain-containing protein 1", "protein_names_refseq": "ATP-grasp domain containing 1; ATP-grasp domain-containing protein 1; carnosine synthase 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57571); (R-HSA-70921)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10773664;11566133;12072962;12815595;1425659;15221005;15806399;18154359;19304569;20097752;26001783;26206726;28904123;29557506;31844290;32502341;33533160;35494241;35580925;36010968;36241641;7901203;7943261", "class_list": "", "function": "CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]., [RefSeq]; CNDP1 and CARNS are expressed in glomeruli and tubular cells; TauT is expressed in renal epithelial cells; CDNP1 may have a role in diabetic neuropathy, [RefSeq, PubMed]; Carnosine synthase is identified as ATP-grasp domain-containing protein 1, [RefSeq, PubMed]; Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine., [UniProtKB, PubMed]; Combining bioinformatics analysis and experiments to explore CARNS1 as a prognostic biomarker for breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K1M3;B4DFC6;E9PK38;F5H427;Q8N467;Q9P2F3", "ec_number_list": [ { "id": "6.3.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.11", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0047730 carnosine synthase activity;GO:0102102 homocarnosine synthase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035499 carnosine biosynthetic process;GO:0006548 L-histidine catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "A5YM72-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WR6-1", "uniprot_id": [ { "id": "CHCT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WR6", "type": "external" } ], "mass": 27182.0, "length": 236, "protein_name": "CHD1 helical C-terminal domain containing protein 1", "gene_name": "CHCT1", "organism": "Human", "refseq_name": "CHD1 helical C-terminal domain containing protein 1", "refseq_ac": [ { "id": "NP_859058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859058", "type": "external" } ], "gene_names_uniprotkb": "CHCT1; C17orf64", "gene_names_refseq": "C17orf64; CHCT1", "protein_names_uniprotkb": "CHD1 helical C-terminal domain containing protein 1", "protein_names_refseq": "CHD1 helical C-terminal domain containing protein 1; uncharacterized protein C17orf64", "tax_id": 9606, "disease": "", "pathway": " (hsa:124773)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;27591891;31429579;33566224", "class_list": "", "function": "Expression profile analysis of a new testis-specifically expressed gene C17ORF64 and its association with cell apoptosis in MCF-7 cells., [RefSeq, PubMed]; May play a role in regulation of apoptosis., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8IY87", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q86WR6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00414-1", "uniprot_id": [ { "id": "COX3_HUMAN", "url": "https://www.uniprot.org/uniprot/P00414", "type": "external" } ], "mass": 29951.0, "length": 261, "protein_name": "Cytochrome c oxidase subunit 3", "gene_name": "MT-CO3", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit III", "refseq_ac": [ { "id": "YP_003024032", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024032", "type": "external" } ], "gene_names_uniprotkb": "MT-CO3; COIII; COXIII; MTCO3", "gene_names_refseq": "COIII; COX3; MTCO3", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 3; 7.1.1.9; Cytochrome c oxidase polypeptide III", "protein_names_refseq": "cytochrome c oxidase subunit III", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 1 (Disease Ontology:DOID:0070491); myoglobinuria (Disease Ontology:DOID:0080108); MELAS syndrome (Disease Ontology:DOID:3687); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); Leber hereditary optic neuropathy (Disease Ontology:DOID:705)", "pathway": " (hsa:4514); (R-HSA-5419276); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 6, "publication_count": 146, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16776823;16839880;17033964;17264172;17298220;17486094;17540029;1757091;17803939;18198340;18344994;18429816;18587274;186667;18692468;18782833;19113821;19439913;19487573;19503089;19690164;19716793;19822145;19968714;20080666;20182617;20186120;20351271;20378837;20929863;21750704;21958598;22172991;22342701;22363791;22427940;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24718924;25233460;25505266;25564869;25579166;25926683;25959673;26321642;26652033;26992070;27693358;28082314;28199844;28330871;28698372;28844695;29154948;30030519;31217245;31536960;32317297;32350084;32357974;32375044;32488085;32502341;33141586;33298915;33537174;33912179;33968037;34185709;3427020;34357683;3475708;34969438;35580925;35750769;36010968;36241641;36302763;36596788;37141370;37938771;4288886;5666113;6094553;7219534;7496173;7979252;7989588;8119488;8240356;8630495;9461455;9843204;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14Y83", "ec_number_list": [ { "id": "7.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.9", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.29", "type": "external" } ], "go_molecular_function": "GO:0004129 cytochrome-c oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0008535 respiratory chain complex IV assembly;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "P00414-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02458-2", "uniprot_id": [ { "id": "CO2A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P02458", "type": "external" } ], "mass": 141785.0, "length": 1487, "protein_name": "Collagen alpha-1(II) chain", "gene_name": "COL2A1", "organism": "Human", "refseq_name": "collagen alpha-1(II) chain isoform 1 precursor", "refseq_ac": [ { "id": "NP_001835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835", "type": "external" } ], "gene_names_uniprotkb": "COL2A1", "gene_names_refseq": "ACG2; ANFH1; ANFH; AOM; COL11A3; COL2A1; EDMMD; LCPD; OSCDP; PLSDT; SEDC; SEDSTN; SEMDSTWK; SMDALG; STL1; VPED", "protein_names_uniprotkb": "Collagen alpha-1(II) chain; Alpha-1 type II collagen", "protein_names_refseq": "alpha-1 type II collagen; arthroophthalmopathy, progressive (Stickler syndrome); cartilage collagen; chondrocalcin; collagen II, alpha-1 polypeptide; collagen alpha-1(II) chain isoform 1 precursor; collagen alpha-1(II) chain; collagen, type II, alpha 1", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); spondyloepimetaphyseal dysplasia (Disease Ontology:DOID:0080027); spondyloepimetaphyseal dysplasia, Strudwick type (Disease Ontology:DOID:0080028); hypochondrogenesis (Disease Ontology:DOID:0080044); Kniest dysplasia (Disease Ontology:DOID:0080045); Stickler syndrome (Disease Ontology:DOID:0080046); achondrogenesis type II (Disease Ontology:DOID:0080056); Stickler syndrome 1 (Disease Ontology:DOID:0080676); multiple epiphyseal dysplasia with myopia and deafness (Disease Ontology:DOID:0111348); Torrance type platyspondylic dysplasia (Disease Ontology:DOID:0111508); spondyloperipheral dysplasia (Disease Ontology:DOID:0112195); spondyloepiphyseal dysplasia Stanescu type (Disease Ontology:DOID:0112281); spondylometaphyseal dysplasia Algerian type (Disease Ontology:DOID:0112296); osteonecrosis (Disease Ontology:DOID:10159); prostate carcinoma (Disease Ontology:DOID:10286); lymphoid leukemia (Disease Ontology:DOID:1037); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); gastric ulcer (Disease Ontology:DOID:10808); urinary bladder cancer (Disease Ontology:DOID:11054); spondyloarthropathy (Disease Ontology:DOID:1123); myopia (Disease Ontology:DOID:11830); leiomyoma (Disease Ontology:DOID:127); dilated cardiomyopathy (Disease Ontology:DOID:12930); endometrial cancer (Disease Ontology:DOID:1380); uterus interstitial leiomyoma (Disease Ontology:DOID:13955); Legg-Calve-Perthes disease (Disease Ontology:DOID:14415); hypothyroidism (Disease Ontology:DOID:1459); spondyloepiphyseal dysplasia congenita (Disease Ontology:DOID:14789); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); impotence (Disease Ontology:DOID:1875); melanoma (Disease Ontology:DOID:1909); nephroblastoma (Disease Ontology:DOID:2154); osteochondrodysplasia (Disease Ontology:DOID:2256); brain ischemia (Disease Ontology:DOID:2316); transitional cell carcinoma (Disease Ontology:DOID:2671); endometriosis (Disease Ontology:DOID:289); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); chondrosarcoma (Disease Ontology:DOID:3371); breast carcinoma (Disease Ontology:DOID:3459); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); retinal detachment (Disease Ontology:DOID:5327); eye disease (Disease Ontology:DOID:5614); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); cleft palate (Disease Ontology:DOID:674); hepatocellular carcinoma (Disease Ontology:DOID:684); hematopoietic system disease (Disease Ontology:DOID:74); osteoarthritis (Disease Ontology:DOID:8398); chronic myeloid leukemia (Disease Ontology:DOID:8552); chorioretinitis (Disease Ontology:DOID:8886); polycythemia vera (Disease Ontology:DOID:8997); degenerative disc disease (Disease Ontology:DOID:90); acute myeloid leukemia (Disease Ontology:DOID:9119); ocular hypertension (Disease Ontology:DOID:9282); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis (MONDO:MONDO:0011496); spondyloepiphyseal dysplasia with metatarsal shortening (MONDO:MONDO:0012206); Stickler syndrome, type I, nonsyndromic ocular (MONDO:MONDO:0012287); vitreoretinopathy with phalangeal epiphyseal dysplasia (MONDO:MONDO:0031001); avascular necrosis of femoral head, primary, 1 (MONDO:MONDO:0054550)", "pathway": " (hsa:1280); (R-HSA-1442490); (R-HSA-1566977); (R-HSA-1650814); (R-HSA-186797); (R-HSA-198933); (R-HSA-2022090); (R-HSA-216083); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-419037); (R-HSA-8874081); (R-HSA-8948216); (R-HSA-9925563)", "pathway_count": 14, "publication_count": 459, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10022829;10049780;10209034;10339611;10366422;10438935;10479448;10499918;10508235;10517180;10521801;10543983;10551873;10593924;10596943;10605720;10618411;10640428;10673326;10673366;10678662;10713152;10745044;10746781;10797431;10809722;10811134;10880734;10934207;10966814;10982388;11007540;11013208;11084047;11119712;11150534;11158588;11259413;11265639;11431421;11489943;11513152;11518510;11556966;11572855;11577169;11713259;11746045;11807247;11817597;11847221;11857637;11858820;11861603;11927537;11955593;11955595;11955599;11980922;12089323;12205109;12213321;12225811;12355481;12369853;12473679;12475640;12482924;12483297;12496264;12538485;12579335;12579531;12585966;12588680;12646579;12682293;12716452;12765789;12807887;1311092;1323838;1370417;1374906;1376317;1378019;1400327;1429602;14500733;14602708;14715956;14719373;14729840;14970179;15005656;15034010;15044469;15054848;15075323;15084912;15136729;15155468;15187158;15207811;15240572;15257288;15265795;15265910;15296743;15304001;15316962;15330449;15345499;15383545;1544908;15466413;15534202;15541655;15580655;15607800;15615512;15643621;15671297;15682451;15713743;15751060;15767546;1577494;15778510;15781451;15800062;15837520;15851719;15864273;1588291;15899827;15930420;15950618;16002701;16014749;16051604;16088915;16091383;16129954;16239428;16267048;16293224;16331269;16339513;1637314;16380601;16385499;1639841;16424181;16436588;16451200;16474853;16493581;16551255;16591531;16731529;16737824;16752401;16754661;16754721;16782899;16806867;16825197;16893496;16904340;16928187;16933105;1704217;17045824;17057721;17088321;171650;17237375;17337780;17339034;17367763;17394019;17469112;17574028;17588949;17604334;17721977;17943726;17968485;17994563;18031695;18037897;18055229;18059411;18209062;18234675;18272325;18487197;18506881;18553548;18559524;18593354;18600328;18622425;18635594;18710925;18775695;1905723;19075007;19149696;19359216;19502598;19564526;19592130;19676074;19693541;1975693;19764028;1985108;1999183;20033473;2005102;2010058;2010551;2045422;20470363;20513134;2059554;20690820;20705068;20730098;20802513;20813817;2081599;21241660;21251937;21376233;21593211;21642437;21671384;2169335;21789315;21800138;21841309;21877119;21878990;21922596;21935455;21967573;22134916;22231228;22241472;22382088;22396535;22507082;2253219;22539938;22884367;22933705;2307289;23090970;23374253;2339128;2355003;23583652;2364322;23653587;23695528;23929856;24116744;2412224;24190977;2420006;24305946;2430969;24480479;25328409;2537292;2543071;2543975;2548603;2551898;25576301;25597754;25703557;25716998;2572591;2587267;26183434;26284469;26300885;26866513;27098309;27143337;2714801;2753125;27726376;2803268;2809592;2825137;2834383;28435517;2845110;28832583;28887846;29093164;29093181;29137923;29263244;29408302;29557506;29741879;29786170;2987845;29964125;3002437;3021582;3038863;30389923;31085175;31717259;3173483;3223920;32350084;32938616;32983136;33465118;33592498;34089345;34171305;34485325;34683962;35020859;35051231;35154160;35251023;36241641;36400164;37074911;37107605;37278761;37307481;37445989;37741824;37901867;3800925;38162154;38246255;38253038;3840017;3857598;3872795;3905801;3938630;6193777;6258630;6270089;6307276;6320112;6439184;6643500;6694361;6809411;710450;7499434;7505120;7509446;7525578;7527058;7531291;7541634;7542249;7542404;7542669;7550321;7559467;7685013;7688639;7693733;7741714;7757081;7757086;7829510;7847372;7852349;7874117;7890717;7977371;8002934;8019561;8026527;8054685;8118028;8178173;8207089;8244341;8262246;8317498;8325895;8344274;8423604;8440685;8463259;8486375;8507190;8529631;8560266;8576151;8660302;8723098;8798654;8806802;8838667;8863156;8900172;8910476;8920930;8943283;8948452;8995416;8999957;9008168;9054364;9092507;9101290;9214420;9251239;9252349;9285412;9294172;9314561;9334164;9341124;9346959;9354468;9398268;9417118;9430695;9443892;9510154;9545296;9560306;9565552;9582318;9636191;9651395;9659899;9659900;9685393;9700512;9711874;9730896;9739761;9800905;9856810;9858236;9949188", "class_list": "", "function": "Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family., [RefSeq, PubMed]; Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants., [RefSeq, PubMed]; The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity., [RefSeq, PubMed]; This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces., [UniProtKB]", "predicted_glycosites": 13, "predicted_n_glycosites": 0, "predicted_o_glycosites": 13, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 68, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A6NGA0;Q12985;Q14009;Q14044;Q14045;Q14046;Q14047;Q14056;Q14058;Q16672;Q1JQ82;Q2V4X7;Q6LBY1;Q6LBY2;Q6LBY3;Q96IT5;Q99227;Q9UE38;Q9UE39;Q9UE40;Q9UE41;Q9UE42;Q9UE43", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0043394 proteoglycan binding;GO:0005201 extracellular matrix structural constituent;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005604 basement membrane", "go_biological_process": "GO:0007417 central nervous system development;GO:0001501 skeletal system development;GO:0007601 visual perception;GO:0030199 collagen fibril organization;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 47.0, "record_id": "P02458-2", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06850-1", "uniprot_id": [ { "id": "CRH_HUMAN", "url": "https://www.uniprot.org/uniprot/P06850", "type": "external" } ], "mass": 21422.0, "length": 196, "protein_name": "Corticotropin-releasing hormone", "gene_name": "CRH", "organism": "Human", "refseq_name": "corticoliberin preproprotein", "refseq_ac": [ { "id": "NP_000747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000747", "type": "external" } ], "gene_names_uniprotkb": "CRH", "gene_names_refseq": "CRF; CRH1; CRH", "protein_names_uniprotkb": "Corticotropin-releasing hormone; CRF; Corticoliberin; Corticotropin-releasing factor", "protein_names_refseq": "corticoliberin preproprotein; corticoliberin; corticotropin-releasing factor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); Alzheimer's disease (Disease Ontology:DOID:10652); sciatic neuropathy (Disease Ontology:DOID:11446); temporal arteritis (Disease Ontology:DOID:13375); extrahepatic cholestasis (Disease Ontology:DOID:13619); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); brain ischemia (Disease Ontology:DOID:2316); temporal lobe epilepsy (Disease Ontology:DOID:3328); middle cerebral artery infarction (Disease Ontology:DOID:3525); brain edema (Disease Ontology:DOID:4724); panic disorder (Disease Ontology:DOID:594); retinal degeneration (Disease Ontology:DOID:8466); polymyalgia rheumatica (Disease Ontology:DOID:853); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:1392); (R-HSA-373080); (R-HSA-418555); (R-HSA-9022702)", "pathway_count": 4, "publication_count": 98, "publication_id_list": "10097073;11007482;11297558;11590404;12036966;12058044;12098667;12106601;12180353;12559132;12860470;13549488;14593183;14593184;14671004;1517224;15498814;15765929;15769620;15951850;16303743;16313925;16602827;16687412;16923326;17168849;17994015;18044684;18234674;1846945;18559919;18577758;18801728;19105585;19876791;19929708;20381629;20966082;21036126;2163110;23593457;2417744;24687066;2491850;2553411;2553705;26417854;2783917;2839838;2871555;29443750;29557506;29602314;29786170;3003585;30833991;3127824;31279028;31399091;31844290;31983287;32004469;32226383;32497535;32540603;32618402;3262120;32715661;32938616;33049737;35051231;3616618;37401376;38184094;38616821;6085243;6605851;6950381;7585095;7797535;8082781;8198617;8340388;8386360;8386612;8397094;8514797;8557170;8612563;8672451;8732687;8770894;8879041;8906787;9064337;9263355;9417641;9651336", "class_list": "", "function": "Hormone that plays a central role in whole body adaptation to stress (By similarity). Released by the hypothalamus primarily in response to physical or psychological stress and acts by binding to CRH receptor CRHR1, and to a lower extent, CRHR2 (PubMed:18801728, PubMed:3003585, PubMed:32004469). CRH-dependent signaling is a primary mediator of the neuroendocrine, autonomic (fight-or-flight) and behavioral responses to stress, acting as a key regulator of adaptation by activating the hypothalamus-pituitary-adrenal axis, leading to corticotropin hormone (ACTH) production (By similarity). Acts as a 'placental clock' during pregnancy, regulating gestational length, fetal development and the timing of labor (PubMed:7585095). Also acts as a regulator of blastocyst implantation by promoting decidualization, regulating trophoblast invasion and facilitating maternal immune tolerance (PubMed:11590404)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of CRH in colitis and colitis-associated cancer: a combinative result of central and peripheral effects? Review article Publication Status: Online-Only, [RefSeq, PubMed]; Sex-dependent association of DNA methylation in the coding region of the corticotropin-releasing hormone gene and schizophrenia spectrum disorder., [RefSeq, PubMed]; The peripheral corticotropin releasing factor family's role in vasculitis. Review article, [RefSeq, PubMed]; This gene encodes a member of the corticotropin-releasing factor family. The encoded preproprotein is proteolytically processed to generate the mature neuropeptide hormone. In response to stress, this hormone is secreted by the paraventricular nucleus (PVN) of the hypothalamus, binds to corticotropin releasing hormone receptors and stimulates the release of adrenocorticotropic hormone from the pituitary gland. Marked reduction in this protein has been observed in association with Alzheimer's disease. Autosomal recessive hypothalamic corticotropin deficiency has multiple and potentially fatal metabolic consequences including hypoglycemia and hepatitis. In addition to production in the hypothalamus, this protein is also synthesized in peripheral tissues, such as T lymphocytes, and is highly expressed in the placenta. In the placenta it is a marker that determines the length of gestation and the timing of parturition and delivery. A rapid increase in circulating levels of the hormone occurs at the onset of parturition, suggesting that, in addition to its metabolic functions, this protein may act as a trigger for parturition. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 19, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQS4", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005184 neuropeptide hormone activity;GO:0005179 hormone activity;GO:0017045 corticotropin-releasing hormone activity;GO:0051430 corticotropin-releasing hormone receptor 1 binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0043204 perikaryon;GO:0098793 presynapse;GO:0043196 varicosity", "go_biological_process": "GO:1903999 negative regulation of eating behavior;GO:0098828 modulation of inhibitory postsynaptic potential;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007611 learning or memory", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P06850-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10589-1", "uniprot_id": [ { "id": "COT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P10589", "type": "external" } ], "mass": 46156.0, "length": 423, "protein_name": "COUP transcription factor 1", "gene_name": "NR2F1", "organism": "Human", "refseq_name": "COUP transcription factor 1 isoform 1", "refseq_ac": [ { "id": "NP_005645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005645", "type": "external" } ], "gene_names_uniprotkb": "NR2F1; EAR3; ERBAL3; TFCOUP1", "gene_names_refseq": "BBOAS; BBSOAS; COUP-TFI; COUPTF1; EAR-3; EAR3; ERBAL3; NR2F1; SVP44; TCFCOUP1; TFCOUP1", "protein_names_uniprotkb": "COUP transcription factor 1; COUP transcription factor I; COUP-TF I; COUP-TF1; EAR-3; Nuclear receptor subfamily 2 group F member 1; V-erbA-related protein 3", "protein_names_refseq": "COUP transcription factor 1 isoform 1; COUP transcription factor I; COUP-TF I; COUP-TF1; V-erbA-related protein 3; chicken ovalbumin upstream promoter-transcription factor I; transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3)", "tax_id": 9606, "disease": "Bosch-Boonstra-Schaaf optic atrophy syndrome (Disease Ontology:DOID:0112226); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:7025); (R-HSA-383280)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10207062;10235266;10542397;10644740;11237011;11682620;11865025;1517211;15175151;15896744;16751179;24462372;26138355;26992070;2739739;27397612;27846572;27862975;2905047;29393594;29557506;30779550;31154438;31217245;31844290;31848261;31937595;31998317;32161166;32488085;33141586;33592498;34087483;34171305;35051231;35580925;35818636;35936005;36215666;36284347;38010976;38499532;39007956;9653119", "class_list": "", "function": "Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG., [UniProtKB, PubMed, PubMed]; Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype., [RefSeq, PubMed]; METTL3 inhibits inflammation of retinal pigment epithelium cells by regulating NR2F1 in an m(6)A-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; NR2F1 overexpression alleviates trophoblast cell dysfunction by inhibiting GDF15/MAPK axis in preeclampsia., [RefSeq, PubMed]; PTEN decreases NR2F1 expression to inhibit ciliogenesis during EGFR[L858R]-induced lung cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Spatial control of astrogenesis progression by cortical arealization genes., [RefSeq, PubMed]; The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P10589-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22914-1", "uniprot_id": [ { "id": "CRYGS_HUMAN", "url": "https://www.uniprot.org/uniprot/P22914", "type": "external" } ], "mass": 21007.0, "length": 178, "protein_name": "Gamma-crystallin S", "gene_name": "CRYGS", "organism": "Human", "refseq_name": "gamma-crystallin S", "refseq_ac": [ { "id": "NP_060011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060011", "type": "external" } ], "gene_names_uniprotkb": "CRYGS; CRYG8", "gene_names_refseq": "CRYG8; CRYGS; CTRCT20", "protein_names_uniprotkb": "Gamma-crystallin S; Beta-crystallin S; Gamma-S-crystallin", "protein_names_refseq": "beta-crystallin S; crystallin, gamma 8; gamma-crystallin S", "tax_id": 9606, "disease": "cataract 20 multiple types (Disease Ontology:DOID:0110240); cataract 3 multiple types (Disease Ontology:DOID:0110269); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:1427)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10837510;11706012;1445197;16141006;18587492;21866213;28839118;33004175;33392160;33454329;33592498;35021623;37586630;37762633;39894887;7733876;8999933", "class_list": "", "function": "A novel F30S mutation in gammaS-crystallin causes autosomal dominant congenital nuclear cataract by increasing susceptibility to stresses., [RefSeq, PubMed]; ATP differentially antagonizes the crowding-induced destabilization of human gammaS-crystallin and its four cataract-causing mutants., [RefSeq, PubMed]; Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]., [RefSeq]; Crystallins are the dominant structural components of the vertebrate eye lens., [UniProtKB]; Human gammaS-Crystallin Mutation F10_Y11delinsLN in the First Greek Key Pair Destabilizes and Impairs Tight Packing Causing Cortical Lamellar Cataract. Publication Status: Online-Only, [RefSeq, PubMed]; Human gammaS-Crystallin Resists Unfolding Despite Extensive Chemical Modification from Exposure to Ionizing Radiation., [RefSeq, PubMed]; The 18th amino acid glycine plays an essential role in maintaining the structural stabilities of gammaS-crystallin linking with congenital cataract., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAF8", "ec_number_list": [], "go_molecular_function": "GO:0005212 structural constituent of eye lens", "go_cellular_component": "", "go_biological_process": "GO:0007601 visual perception;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P22914-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02388-1", "uniprot_id": [ { "id": "CO7A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02388", "type": "external" } ], "mass": 295220.0, "length": 2944, "protein_name": "Collagen alpha-1(VII) chain", "gene_name": "COL7A1", "organism": "Human", "refseq_name": "collagen alpha-1(VII) chain precursor", "refseq_ac": [ { "id": "NP_000085", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000085", "type": "external" } ], "gene_names_uniprotkb": "COL7A1", "gene_names_refseq": "COL7A1; EBD1; EBDCT; EBR1; NDNC8", "protein_names_uniprotkb": "Collagen alpha-1(VII) chain; LC collagen; Long-chain collagen", "protein_names_refseq": "LC collagen; collagen VII, alpha-1 polypeptide; collagen alpha-1(VII) chain precursor; collagen alpha-1(VII) chain; collagen, type VII, alpha 1; long-chain collagen", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); recessive dystrophic epidermolysis bullosa (Disease Ontology:DOID:0060642); nonsyndromic congenital nail disorder 8 (Disease Ontology:DOID:0080086); autosomal dominant dystrophic epidermolysis bullosa (Disease Ontology:DOID:0080224); pretibial dystrophic epidermolysis bullosa (Disease Ontology:DOID:0080988); transient bullous dermolysis of the newborn (Disease Ontology:DOID:0111345); epidermolysis bullosa with congenital localized absence of skin and deformity of nails (Disease Ontology:DOID:0111347); prostate cancer (Disease Ontology:DOID:10283); Marfan syndrome (Disease Ontology:DOID:14323); breast cancer (Disease Ontology:DOID:1612); brain ischemia (Disease Ontology:DOID:2316); anemia (Disease Ontology:DOID:2355); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); renal cell carcinoma (Disease Ontology:DOID:4450); epidermolysis bullosa dystrophica (Disease Ontology:DOID:4959); diabetes mellitus (Disease Ontology:DOID:9351); obesity (Disease Ontology:DOID:9970); dystrophic epidermolysis bullosa pruriginosa (MONDO:MONDO:0011398)", "pathway": " (hsa:1294); (R-HSA-1442490); (R-HSA-1566977); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-204005); (R-HSA-216083); (R-HSA-2214320); (R-HSA-3000157); (R-HSA-5694530); (R-HSA-8948216)", "pathway_count": 11, "publication_count": 313, "publication_id_list": "10.1101/2023.09.13.557529;10049780;10084325;10209034;10232406;10232407;10232408;10233777;10366422;10383749;10438935;10445031;10469344;10479448;10504458;10543983;10551873;10559958;10559959;10593924;10596943;10605720;10620140;10640428;10652252;10673366;10679020;10713152;10747087;10788476;10809722;10811134;10825291;10836608;10903204;10934207;10966814;10982388;10982397;11013208;11035026;11054877;11119712;11142768;11158588;11167698;11237011;11285137;11306556;11518510;11572855;11577169;11713259;11843659;11874498;11927537;11927603;11964076;11980922;11986329;12070132;12235121;12237301;12237308;12473679;12475640;12482924;12496264;12579531;12585966;12646579;12682293;12787275;12807887;1307247;1323838;1400327;14500733;14602708;1469284;15005656;15037235;15044469;15240572;15257288;15265795;15330449;15345499;15383545;1567409;15713743;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16129679;16239428;16272566;16303754;16413178;16495487;16563355;16581764;16591531;16624868;16731529;16754661;16825197;16912714;16933105;16959974;17005010;17010120;17038314;1704217;17088321;171650;17192411;17287728;17316621;17339034;17499046;17562788;17607000;17684057;17968485;18025080;18283111;18287528;18487197;18599485;18622425;18710925;1871109;18775695;18843296;19075007;19164740;19265014;19269366;19502598;19566487;19638414;19656848;19693541;20033473;2005102;2010551;20108428;20427317;2045422;20470363;20477988;20533886;20545907;20598510;20679433;20690820;20705068;20805473;20966969;21478858;21525241;21532587;21593211;21689688;2169335;21878990;21935455;21967573;22013193;22157747;22241472;22382088;22493504;2253219;22539938;22675024;22884367;2307289;23090970;23374253;23378591;23479643;23698585;23852824;23864707;24119662;24190977;24715725;24917561;25202031;2537292;25406594;2543975;2548603;25492864;2551898;25586378;25619252;25619253;25645385;2653224;2834383;2845110;29242379;29557506;30059200;3038863;30524438;3082888;3173483;31844290;32157095;3223920;32488085;32938616;33141586;33592498;33936100;33968037;34171305;34357683;34509645;35051231;35154160;35318648;35494241;35527172;35560343;35979658;36010968;38253038;38580989;3872795;3905801;39159368;3938630;3997977;6258630;6270089;6307276;6643500;6694361;6809411;710450;7505120;7525578;7530271;7541634;7542249;7559467;7685013;7861014;7890717;8051117;8088784;8118028;8170945;8207089;8221884;8344274;8463259;8499916;8513326;8541842;8560266;8576151;8592061;8618018;8620540;8644729;8663406;8757758;8798654;8838667;8910476;8920930;8999957;9008168;9008239;9054364;9092507;9094723;9150144;9177194;9215684;9245798;9251239;9307973;9326325;9375848;9395526;9443892;9444387;9472029;9545296;9560306;9565552;9582318;9645947;9647643;9651395;9668111;9740253;9804332;9856810;9856843;9856844;9858236", "class_list": "", "function": "Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation., [RefSeq, PubMed]; COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa., [RefSeq, PubMed]; Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa., [RefSeq, PubMed]; Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen., [UniProtKB]; This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]., [RefSeq]; Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A. Erratum:[J Dermatol Sci. 2022 Oct;108(1):55. doi: 10.1016/j.jdermsci.2022.11.002. PMID: 36404218], [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 2, "predicted_o_glycosites": 7, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 18, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q14054;Q16507", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion;GO:0030198 extracellular matrix organization;GO:0008544 epidermis development;GO:0030199 collagen fibril organization;GO:0035987 endodermal cell differentiation", "synthesized_glycan_count": 0, "hit_score": 31.9, "record_id": "Q02388-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13324-1", "uniprot_id": [ { "id": "CRHR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13324", "type": "external" } ], "mass": 47688.0, "length": 411, "protein_name": "Corticotropin-releasing hormone receptor 2", "gene_name": "CRHR2", "organism": "Human", "refseq_name": "corticotropin-releasing factor receptor 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001189404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189404", "type": "external" } ], "gene_names_uniprotkb": "CRHR2; CRF2R; CRH2R", "gene_names_refseq": "CRF-RB; CRF2; CRFR2; CRHR2; HM-CRF", "protein_names_uniprotkb": "Corticotropin-releasing hormone receptor 2; CRF-R-2; CRF-R2; CRFR-2; CRH-R-2; CRH-R2; Corticotropin-releasing factor receptor 2", "protein_names_refseq": "CRH-R2; corticotropin-releasing factor receptor 2 isoform 2 precursor; corticotropin-releasing factor receptor 2", "tax_id": 9606, "disease": "left ventricular failure (Disease Ontology:DOID:0051064); colitis (Disease Ontology:DOID:0060180); depressive disorder (Disease Ontology:DOID:1596); asthma (Disease Ontology:DOID:2841); ischemia (Disease Ontology:DOID:326); functional colonic disease (Disease Ontology:DOID:3877); rhinitis (Disease Ontology:DOID:4483); muscular atrophy (Disease Ontology:DOID:767); irritable bowel syndrome (Disease Ontology:DOID:9778)", "pathway": " (hsa:1395); (R-HSA-418555); (R-HSA-422085)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10604470;11007482;11089560;11237011;11329063;11416224;11600536;11756331;12036966;12050285;12058044;12106601;12180353;12354137;12414809;12553549;12860470;13549488;14599721;14671004;15126574;15142980;1517224;15256494;15604212;15765929;15769620;15951850;16313925;16687412;16923326;17168849;17289852;17595255;18044684;18396350;18443287;18577758;19105585;19280057;19327128;19628676;19876791;19929708;20381629;20966082;21036126;2163110;22689579;2417744;24687066;2491850;2553411;2553705;26417854;27543614;2871555;29443750;29602314;29632046;30833991;3127824;31279028;31399091;31983287;32004470;32226383;32497535;32502341;32540603;32618402;32715661;33049737;36077219;36335102;37543650;6085243;8340388;8514797;8536644;8672451;9199241;9263355;9417641;9651336;9717834", "class_list": "", "function": "Comorbidity of Novel CRHR2 Gene Variants in Type 2 Diabetes and Depression. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for CRH, UCN, UCN2 and UCN3 stress hormones, which plays a central role in whole body adaptation to stress (PubMed:11329063, PubMed:11416224, PubMed:20966082, PubMed:22689579, PubMed:32004470, PubMed:36335102). Has highest affinity for UCN, and much lower affinity for CRH, UNC2 and UCN3 (PubMed:20966082, PubMed:22689579, PubMed:32004470, PubMed:36335102). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and downstream effectors, such as adenylate cyclase (PubMed:32004470, PubMed:36335102). CRHR2 is coupled to G(s) G protein (GNAS), mediating activation of adenylate cyclase activity and production of cAMP (PubMed:32004470, PubMed:36335102). CRHR2-dependent signaling is a primary mediator of the neuroendocrine, autonomic (fight-or-flight) and behavioral responses to stress, acting as a key regulator of adaptation by activating the hypothalamus-pituitary-adrenal axis, leading to corticotropin hormone (ACTH) production (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R967;B3SXS6;B3SXS7;B3SXS8;B3SXT0;F8WA81;O43461;Q4QRJ4;Q99431", "ec_number_list": [], "go_molecular_function": "GO:0017046 peptide hormone binding;GO:0008528 G protein-coupled peptide receptor activity;GO:0015056 corticotrophin-releasing factor receptor activity;GO:0043404 corticotropin-releasing hormone receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043679 axon terminus", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway;GO:0060291 long-term synaptic potentiation", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q13324-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6JBY9-1", "uniprot_id": [ { "id": "CPZIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6JBY9", "type": "external" } ], "mass": 44504.0, "length": 416, "protein_name": "CapZ-interacting protein", "gene_name": "RCSD1", "organism": "Human", "refseq_name": "capZ-interacting protein isoform 1", "refseq_ac": [ { "id": "NP_443094", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443094", "type": "external" } ], "gene_names_uniprotkb": "RCSD1; CAPZIP", "gene_names_refseq": "CAPZIP; MK2S4; RCSD1", "protein_names_uniprotkb": "CapZ-interacting protein; Protein kinase substrate CapZIP; RCSD domain-containing protein 1", "protein_names_refseq": "CapZ-interacting protein; RCSD domain-containing protein 1; capZ-interacting protein isoform 1; protein kinase substrate CapZIP; protein kinase substrate MK2S4", "tax_id": 9606, "disease": "", "pathway": " (hsa:92241)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;15850461;17541395;19064610;19367720;19369195;19536175;19651622;19690332;20058876;20166139;23186163;24275569;24715725;25576301;26992070;27869121;28832583;28904123;29242379;29557506;31217245;31611695;31844290;32157095;32983136;33298915;33968037;35051231;35132862;35251023;35580925;38253038", "class_list": "", "function": "CapZIP is fused to ABL1 in a t(1;9)(q24;q34)-associated B-cell acute lymphoblastic leukemia, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Stress-induced phosphorylation of CAPZIP may regulate the ability of F-actin-capping protein to remodel actin filament assembly., [UniProtKB, PubMed]; The structure and function of CapZ-interacting protein are reported., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B1AK48;Q4G0E7;Q6IN93;Q8IZM2;Q96DX0;Q9NST4", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:1901981 phosphatidylinositol phosphate binding;GO:1905394 retromer complex binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0005884 actin filament;GO:0071203 WASH complex", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0036010 protein localization to endosome;GO:0042147 retrograde transport, endosome to Golgi;GO:0071474 cellular hyperosmotic response", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q6JBY9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UX73-1", "uniprot_id": [ { "id": "CP089_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UX73", "type": "external" } ], "mass": 45391.0, "length": 402, "protein_name": "UPF0764 protein C16orf89", "gene_name": "C16orf89", "organism": "Human", "refseq_name": "UPF0764 protein C16orf89 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001091984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091984", "type": "external" } ], "gene_names_uniprotkb": "C16orf89; PRO1925", "gene_names_refseq": "C16orf89", "protein_names_uniprotkb": "UPF0764 protein C16orf89", "protein_names_refseq": "UPF0764 protein C16orf89 isoform 2 precursor; UPF0764 protein C16orf89", "tax_id": 9606, "disease": "", "pathway": " (hsa:146556)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;12975309;16303743;20578903;22645359;25418920;26024233;26992070;28218747;28228285;29437277;29557506;30315122;30410026;30429286;30459171;31844290;32157095;32357974;32387766;32938616;33298915;33633747;33912179;34171305;35580925", "class_list": "", "function": "Characterization of C16orf89; mRNA and translated protein sequences (signal peptide, O-glycosylation sites); mRNA expression in various tissues primarily thyroid, [RefSeq, PubMed]; This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DUM5;Q8N2I3;Q8N4T1", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q6UX73-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZS62-1", "uniprot_id": [ { "id": "COLC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZS62", "type": "external" } ], "mass": 13401.0, "length": 124, "protein_name": "Colorectal cancer-associated protein 1", "gene_name": "COLCA1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "COLCA1; C11orf92", "gene_names_refseq": "", "protein_names_uniprotkb": "Colorectal cancer-associated protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "24154973;33936100", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6ZS62-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z449-1", "uniprot_id": [ { "id": "CP2U1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z449", "type": "external" } ], "mass": 61987.0, "length": 544, "protein_name": "Cytochrome P450 2U1", "gene_name": "CYP2U1", "organism": "Human", "refseq_name": "cytochrome P450 2U1", "refseq_ac": [ { "id": "NP_898898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_898898", "type": "external" } ], "gene_names_uniprotkb": "CYP2U1", "gene_names_refseq": "CYP2U1; P450TEC; SPG49; SPG56", "protein_names_uniprotkb": "Cytochrome P450 2U1; 1.14.14.80; Long-chain fatty acid omega-monooxygenase", "protein_names_refseq": "cytochrome P450 2U1; cytochrome P450, family 2, subfamily U, polypeptide 1; long-chain fatty acid omega-monooxygenase; spastic paraplegia 49; spastic paraplegia 56 (autosomal dominant)", "tax_id": 9606, "disease": "hereditary spastic paraplegia 56 (Disease Ontology:DOID:0110808)", "pathway": " (hsa:113612); (R-HSA-211958); (R-HSA-2142816); (R-HSA-5579011)", "pathway_count": 4, "publication_count": 45, "publication_id_list": "11160876;11237011;12432928;12711469;14660610;14975754;15258110;15548719;15611369;15752708;16677611;18065749;23176821;23481700;23897027;24563460;24715725;26811146;27397612;27600516;27846572;27920218;28904123;29393594;29557506;31154438;31217245;31844290;31848261;32006740;32157095;32161166;32488085;32938616;32983136;33298915;33968037;34171305;34546337;34561969;35580925;36166872;36498943;9435160;9618440", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of arachidonic acid and its conjugates (PubMed:14660610, PubMed:24563460). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:14660610, PubMed:24563460). Acts as an omega and omega-1 hydroxylase for arachidonic acid and possibly for other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes (PubMed:14660610, PubMed:24563460). May down-regulate the biological activities of N-arachidonoyl-serotonin, an endocannabinoid that has anti-nociceptive effects through inhibition of fatty acid amide hydrolase FAAH, TRPV1 receptor and T-type calcium channels. Catalyzes C-2 oxidation of the indole ring of N-arachidonoyl-serotonin forming a less active product 2-oxo-N-arachidonoyl-serotonin (PubMed:24563460)., [UniProtKB, PubMed, PubMed]; CYP2U1 plays an important physiological role in fatty acid signaling processes in both cerebellum and thymus, [RefSeq, PubMed]; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics., [UniProtKB, UniProtKB]; Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations., [RefSeq, PubMed]; Human Orphan Cytochrome P450 2U1 Catalyzes the omega-Hydroxylation of Leukotriene B4. Publication Status: Online-Only, [RefSeq, PubMed]; Implication of folate deficiency in CYP2U1 loss of function., [RefSeq, PubMed]; Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RMV7;Q96EQ6", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;GO:0008395 steroid hydroxylase activity;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005743 mitochondrial inner membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0097267 omega-hydroxylase P450 pathway;GO:0006805 xenobiotic metabolic process;GO:0008202 steroid metabolic process;GO:0006082 organic acid metabolic process;GO:1903604 cytochrome metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q7Z449-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86T23-1", "uniprot_id": [ { "id": "CROL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86T23", "type": "external" } ], "mass": 12396.0, "length": 111, "protein_name": "Putative ciliary rootlet coiled-coil protein-like 1 protein", "gene_name": "CROCCP2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CROCCP2; CROCCL1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ciliary rootlet coiled-coil protein-like 1 protein; Ciliary rootlet coiled-coil protein pseudogene 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "30379171;33981976", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NF65;Q96FR5;Q9BRE8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q86T23-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TY3-1", "uniprot_id": [ { "id": "ARMD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TY3", "type": "external" } ], "mass": 84173.0, "length": 774, "protein_name": "Armadillo-like helical domain-containing protein 4", "gene_name": "ARMH4", "organism": "Human", "refseq_name": "armadillo-like helical domain-containing protein 4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001001872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001872", "type": "external" } ], "gene_names_uniprotkb": "ARMH4; C14orf37", "gene_names_refseq": "ARMH4; C14orf37; UT2; c14_5376", "protein_names_uniprotkb": "Armadillo-like helical domain-containing protein 4; Upstream of mTORC2 protein", "protein_names_refseq": "armadillo-like helical domain-containing protein 4 isoform 1 precursor; armadillo-like helical domain-containing protein 4; uncharacterized protein C14orf37; upstream of mTORC2 protein; upstream of mTORC2", "tax_id": 9606, "disease": "", "pathway": " (hsa:145407)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1038/emboj.2013.79;11237011;21406692;23481700;23584533;26927669;29557506;29789417;30429286;30459171;30524438;31844290;32157095;33968037;35051231;35494241;36010968;36649229", "class_list": "", "function": "Identification of ARMH4 and WIPF3 as human podocyte proteins with potential roles in immunomodulation and cytoskeletal dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; May modulate immune response and may play a role in inflammation (PubMed:36649229). Down-modulates STAT3 signaling throught direct interaction with IL6ST, resulting in the inhibition of phosphorylation of STAT3 at 'Tyr-705' (PubMed:26927669). May negatively regulates AKT signaling by modulating the activity of mTORC2 complex through RICTOR interaction (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 27, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 27, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 27, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "A8K8Z8;Q6P5Q1;Q86TY1", "ec_number_list": [], "go_molecular_function": "GO:1904841 TORC2 complex binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0050727 regulation of inflammatory response;GO:1903939 regulation of TORC2 signaling", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q86TY3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86X59-1", "uniprot_id": [ { "id": "CQ082_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86X59", "type": "external" } ], "mass": 25393.0, "length": 251, "protein_name": "Putative uncharacterized protein LINC02875", "gene_name": "LINC02875", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC02875; C17orf82", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LINC02875", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "26758079;30379171", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q86X59-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XI2-1", "uniprot_id": [ { "id": "CNDG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XI2", "type": "external" } ], "mass": 130960.0, "length": 1143, "protein_name": "Condensin-2 complex subunit G2", "gene_name": "NCAPG2", "organism": "Human", "refseq_name": "condensin-2 complex subunit G2 isoform a", "refseq_ac": [ { "id": "NP_001268861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268861", "type": "external" } ], "gene_names_uniprotkb": "NCAPG2; LUZP5", "gene_names_refseq": "3KS; CAP-G2; CAPG2; LUZP5; MTB; NCAPG2; hCAP-G2", "protein_names_uniprotkb": "Condensin-2 complex subunit G2; CAP-G2; Chromosome-associated protein G2; Leucine zipper protein 5; Non-SMC condensin II complex subunit G2; hCAP-G2", "protein_names_refseq": "chromosome-associated protein G2; condensin-2 complex subunit G2 isoform a; condensin-2 complex subunit G2; leucine zipper protein 5; more than blood homolog", "tax_id": 9606, "disease": "autosomal recessive disease (Disease Ontology:DOID:0050737); Khan-Khan-Katsanis syndrome (MONDO:MONDO:0032764)", "pathway": " (hsa:54892); (R-HSA-2299718)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "11237011;12086618;12208845;14532007;15750587;16565220;18211953;18367646;18669648;18691976;18718915;19007248;19691289;20068231;20551165;20551166;20622854;20966048;21498573;21515671;21911480;22544926;23186163;23481700;23498719;24714562;24715725;25576301;25645385;25892735;26024233;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29789417;30315122;30410026;30524438;30609410;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34105348;34171305;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36265182;37248471;37544634;38166947;38701261;39894887", "class_list": "", "function": "Circular RNA circ0001955 promotes cervical cancer tumorigenesis and metastasis via the miR-188-3p/NCAPG2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; MYC and NCAPG2 as molecular targets of colorectal cancer and gastric cancer in nursing., [RefSeq, PubMed]; Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair, [RefSeq, PubMed]; NCAPG2 contributes to the progression of malignant melanoma through regulating proliferation and metastasis., [RefSeq, PubMed]; NCAPG2 promotes prostate cancer malignancy and stemness via STAT3/c-MYC signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis., [UniProtKB, PubMed, PubMed]; The CAP-G2 subunit of the condensin II complex implicated in chromosome assembly and segregation, [RefSeq, PubMed]; The mRNA stability of NCAPG2, a novel contributor to breast invasive carcinoma, is enhanced by the RNA-binding protein PCBP2., [RefSeq, PubMed]; This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D228;Q7Z3J9;Q8WUG8;Q9BRX6;Q9H8S2;Q9H9K6", "ec_number_list": [], "go_molecular_function": "GO:0043425 bHLH transcription factor binding;GO:0140117 histone H4K20me1 reader activity", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:1905820 positive regulation of chromosome separation;GO:0051984 positive regulation of chromosome segregation;GO:0051301 cell division;GO:0021987 cerebral cortex development;GO:0007076 mitotic chromosome condensation", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q86XI2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZM0-1", "uniprot_id": [ { "id": "CNG1O_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZM0", "type": "external" } ], "mass": 9081.0, "length": 81, "protein_name": "Putative CNGA1-overlapping antisense gene protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative CNGA1-overlapping antisense gene protein; Anti-CNG1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "12388767", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8IZM0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N123-1", "uniprot_id": [ { "id": "CPXCR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N123", "type": "external" } ], "mass": 34727.0, "length": 301, "protein_name": "CPX chromosomal region candidate gene 1 protein", "gene_name": "CPXCR1", "organism": "Human", "refseq_name": "CPX chromosomal region candidate gene 1 protein", "refseq_ac": [ { "id": "NP_001171700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171700", "type": "external" } ], "gene_names_uniprotkb": "CPXCR1", "gene_names_refseq": "CPXCR1; CT77", "protein_names_uniprotkb": "CPX chromosomal region candidate gene 1 protein; CT77; Cancer/testis antigen 77", "protein_names_refseq": "CPX chromosomal region candidate gene 1 protein; cancer/testis antigen 77", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); primary sclerosing cholangitis (Disease Ontology:DOID:0060643); bronchiectasis 1 (Disease Ontology:DOID:0080526); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); congenital bilateral absence of vas deferens (Disease Ontology:DOID:0111862); autosomal recessive congenital bilateral absence of vas deferens (Disease Ontology:DOID:0111864); cholelithiasis (Disease Ontology:DOID:10211); Alzheimer's disease (Disease Ontology:DOID:10652); gastric ulcer (Disease Ontology:DOID:10808); prostatic hypertrophy (Disease Ontology:DOID:11132); osteoporosis (Disease Ontology:DOID:11476); allergic bronchopulmonary aspergillosis (Disease Ontology:DOID:13166); lung cancer (Disease Ontology:DOID:1324); typhoid fever (Disease Ontology:DOID:13258); exocrine pancreatic insufficiency (Disease Ontology:DOID:13316); pulmonary sarcoidosis (Disease Ontology:DOID:13406); cholestasis (Disease Ontology:DOID:13580); cystic fibrosis (Disease Ontology:DOID:1485); duodenal ulcer (Disease Ontology:DOID:1724); pancreatic cancer (Disease Ontology:DOID:1793); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); alcoholic pancreatitis (Disease Ontology:DOID:4988); salpingitis (Disease Ontology:DOID:5733); dental enamel hypoplasia (Disease Ontology:DOID:693); gastrointestinal system disease (Disease Ontology:DOID:77); lung disease (Disease Ontology:DOID:850); diabetes mellitus (Disease Ontology:DOID:9351); bronchiectasis (Disease Ontology:DOID:9563)", "pathway": " (hsa:53336)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11499681;28428959", "class_list": "", "function": "Our results indicate a possible contribution of CNVs in LEPR, NEGR1, ARHGEF4, and CPXCR1 and the intergenic regions 12q15c, 15q21.1a, and 22q11.21d to the development of obesity, particularly abdominal obesity in Mexican children., [RefSeq, PubMed]; This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 29, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9F9;D3DTE7;Q96RS3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N123-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3J3-1", "uniprot_id": [ { "id": "HROB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3J3", "type": "external" } ], "mass": 69771.0, "length": 647, "protein_name": "Homologous recombination OB-fold protein", "gene_name": "HROB", "organism": "Human", "refseq_name": "homologous recombination OB-fold protein isoform 2", "refseq_ac": [ { "id": "NP_001164722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164722", "type": "external" } ], "gene_names_uniprotkb": "HROB; C17orf53", "gene_names_refseq": "C17orf53; HROB; MCM8IP; ODG11", "protein_names_uniprotkb": "Homologous recombination OB-fold protein", "protein_names_refseq": "MCM8-9-Interacting Protein); homologous recombination OB-fold protein isoform 2; homologous recombination OB-fold protein; homologous recombincation factor with OB-fold; uncharacterized protein C17orf53", "tax_id": 9606, "disease": "ovarian dysgenesis 11 (MONDO:MONDO:0971176)", "pathway": " (hsa:78995)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10.1101/2023.09.13.557529;18669648;19079262;23186163;23481700;24129315;24715725;25576301;26992070;27846572;28228285;28832583;28834231;29242379;29557506;30370607;30429286;30620550;31092671;31467087;31844290;32157095;32161166;32502341;32528060;32853826;32938616;33298915;34171305;34357683;34561969;34707299;34932366;35051231;37535404;38105698;38678026;39302247", "class_list": "", "function": "C17orf53 is identified as a novel gene involved in inter-strand crosslink repair., [RefSeq, PubMed]; C17orf53/HROB is an OB-fold-containing factor involved in HR that acts by recruiting the MCM8-MCM9 helicase to sites of DNA damage to promote DNA synthesis, [RefSeq, PubMed]; DNA-binding protein involved in homologous recombination that acts by recruiting the MCM8-MCM9 helicase complex to sites of DNA damage to promote DNA repair synthesis (PubMed:31467087). A C-terminal region including the OB-fold stimulates the helicase activity of MCM8-MCM9 probably by altering its conformation (PubMed:37535404)., [UniProtKB, PubMed, PubMed]; MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanism of DNA unwinding by MCM8-9 in complex with HROB. Publication Status: Online-Only, [RefSeq, PubMed]; Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The C17orf53 SNP rs227584 is associated with human bone density and bone fractures risk., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K7A9;Q9BWM9;Q9HAI1", "ec_number_list": [], "go_molecular_function": "GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0090734 site of DNA damage", "go_biological_process": "GO:0006974 DNA damage response;GO:0036297 interstrand cross-link repair;GO:0000725 recombinational repair;GO:0000731 DNA synthesis involved in DNA repair;GO:0007292 female gamete generation", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8N3J3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3K9-1", "uniprot_id": [ { "id": "CMYA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3K9", "type": "external" } ], "mass": 449211.0, "length": 4069, "protein_name": "Cardiomyopathy-associated protein 5", "gene_name": "CMYA5", "organism": "Human", "refseq_name": "cardiomyopathy-associated protein 5", "refseq_ac": [ { "id": "NP_705838", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_705838", "type": "external" } ], "gene_names_uniprotkb": "CMYA5; C5orf10; DTNBP2; SPRYD2; TRIM76", "gene_names_refseq": "C5orf10; CMYA5; SPRYD2; TRIM76", "protein_names_uniprotkb": "Cardiomyopathy-associated protein 5; Dystrobrevin-binding protein 2; Genethonin-3; Myospryn; SPRY domain-containing protein 2; Tripartite motif-containing protein 76", "protein_names_refseq": "2310076E16Rik; SPRY domain-containing protein 2; cardiomyopathy-associated protein 5; dystrobrevin-binding protein 2; genethonin-3; myospryn; tripartite motif-containing 76; tripartite motif-containing protein 76", "tax_id": 9606, "disease": "", "pathway": " (hsa:202333)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10.1101/2023.09.13.557529;11297942;14688250;16407236;17872945;17924679;18344630;19140017;20634290;24366607;25576301;26403435;26992070;27350668;28776924;29557506;30379171;30429286;31844290;32387766;32938616;32983136;33392160;33592498;33912179;35051231;35251023;35494241;35580925;36010968;38253038", "class_list": "", "function": "Association between CMYA5 gene polymorphisms and schizophrenia was confirmed in Asian population., [RefSeq, PubMed]; Functions directly downstream of MEF2A at the costamere in striated muscle potentially playing a role in myofibrillogenesis., [RefSeq, PubMed]; May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity)., [UniProtKB, UniProtKB]; Meta-analysis did not provide evidence supporting a contribution of CMYA5 rs3828611 and rs4704591 to schizophrenia susceptibility in Asian populations., [RefSeq, PubMed]; Perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin, [RefSeq, PubMed]; Polymorphism of myospryn is associated with left ventricular hypertrophy, and an association between a Z-disc protein and cardiac adaptation in response to pressure overload. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Review discusses interactions that suggest myospryn is involved in two seemingly distinct processes, protein kinase A signalling and vesicular trafficking. Review article, [RefSeq, PubMed]; The results showed that MYBPC3 25-bp deletion polymorphism was significantly associated with elevated risk of left ventricular dysfunction (LVD), while TTN 18 bp I/D, TNNT2 5 bp I/D and myospryn K2906N polymorphisms did not show any significant association with LVD., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 94, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A0PJB7;Q05CT4;Q2NKX1;Q2T9G9;Q69YQ8;Q69YQ9;Q6P517;Q6P5U3;Q7Z4I1;Q86T34;Q86T49;Q8N3S4;Q8N3S7;Q8NAG8;Q9UK88", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0031430 M band;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8N3K9-1", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4C9-1", "uniprot_id": [ { "id": "CQ078_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4C9", "type": "external" } ], "mass": 30555.0, "length": 275, "protein_name": "Uncharacterized protein C17orf78", "gene_name": "C17orf78", "organism": "Human", "refseq_name": "uncharacterized protein C17orf78 isoform 2", "refseq_ac": [ { "id": "NP_001308328", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308328", "type": "external" } ], "gene_names_uniprotkb": "C17orf78", "gene_names_refseq": "C17orf78", "protein_names_uniprotkb": "Uncharacterized protein C17orf78", "protein_names_refseq": "famsin; uncharacterized protein C17orf78 isoform 2; uncharacterized protein C17orf78", "tax_id": 9606, "disease": "", "pathway": " (hsa:284099)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "19913121;20628086;32387766", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N8D2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N4C9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8I6-1", "uniprot_id": [ { "id": "CQ055_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8I6", "type": "external" } ], "mass": 28326.0, "length": 264, "protein_name": "Putative uncharacterized protein encoded by LINC00482", "gene_name": "LINC00482", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00482; C17orf55", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00482", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8N8I6-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9R0-1", "uniprot_id": [ { "id": "CP081_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9R0", "type": "external" } ], "mass": 15610.0, "length": 145, "protein_name": "Putative uncharacterized protein encoded by LINC00304", "gene_name": "LINC00304", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00304; C16orf81; NCRNA00304", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00304", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8N9R0-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCD1-1", "uniprot_id": [ { "id": "CR032_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCD1", "type": "external" } ], "mass": 8669.0, "length": 76, "protein_name": "UPF0729 protein C18orf32", "gene_name": "C18orf32", "organism": "Human", "refseq_name": "UPF0729 protein C18orf32", "refseq_ac": [ { "id": "NP_001030177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030177", "type": "external" } ], "gene_names_uniprotkb": "C18orf32", "gene_names_refseq": "C18orf32; GPIBD25", "protein_names_uniprotkb": "UPF0729 protein C18orf32; Putative NF-kappa-B-activating protein 200", "protein_names_refseq": "UPF0729 protein C18orf32; putative NF-kappa-B-activating protein 200; putative NFkB activating protein", "tax_id": 9606, "disease": "glycosylphosphatidylinositol biosynthesis defect 25 (MONDO:MONDO:0859271)", "pathway": " (hsa:497661)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12761501;24715725;26992070;29275994;31844290;31848261;32157095;32161166;32983136;33691108;35051231;35107634;36241641", "class_list": "", "function": "C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures., [RefSeq, PubMed]; May activate the NF-kappa-B signaling pathway., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet", "go_biological_process": "GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8TCD1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXI2-1", "uniprot_id": [ { "id": "CNKR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXI2", "type": "external" } ], "mass": 117535.0, "length": 1034, "protein_name": "Connector enhancer of kinase suppressor of ras 2", "gene_name": "CNKSR2", "organism": "Human", "refseq_name": "connector enhancer of kinase suppressor of ras 2 isoform 2", "refseq_ac": [ { "id": "NP_001162118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162118", "type": "external" } ], "gene_names_uniprotkb": "CNKSR2; CNK2; KIAA0902; KSR2", "gene_names_refseq": "CNK2; CNKSR2; KSR2; MAGUIN; MRXSHG", "protein_names_uniprotkb": "Connector enhancer of kinase suppressor of ras 2; CNK homolog protein 2; CNK2; Connector enhancer of KSR 2", "protein_names_refseq": "CNK homolog protein 2; connector enhancer of KSR2; connector enhancer of kinase suppressor of ras 2 isoform 2; membrane-associated guanylate kinase-interacting protein", "tax_id": 9606, "disease": "syndromic X-linked mental retardation Hough type (Disease Ontology:DOID:0080242)", "pathway": " (hsa:22866); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223)", "pathway_count": 8, "publication_count": 132, "publication_id_list": "10209122;10409742;10725339;10891492;11237011;11325826;11802164;11802165;12068308;12473660;12479806;12832465;14597674;14636584;14970219;15035987;15118098;15239952;15260967;15345747;15520807;15543157;15547943;15630448;16135787;16364920;16508002;16702958;16879721;16959974;17018604;17145850;17178906;17496912;17563371;17603482;17603483;18287029;18287031;18452278;18559533;18562239;18974108;19091303;19219045;19242111;19279408;19467855;19664994;19664995;19690332;19933846;20052757;20130576;20141835;20179705;20526349;20818844;20858867;21107323;21406692;21424530;21514245;21639808;21779496;21784453;21993244;22043453;22113612;22177953;22292133;22356324;22395615;22510884;22569528;22589270;22745804;22826437;23171796;23288408;23352452;23453624;23583981;23614898;23667175;23680146;23875798;23934108;24121058;24135138;24202393;24275569;24345920;24651010;24746704;24937142;24957944;25195011;25204415;25223753;25313996;25435214;25907612;26214590;27227380;28098945;28939558;29467321;30034615;30379171;30794926;31154438;31844290;32245427;32350084;3287375;32938616;33298018;33591602;33633747;35053419;38253038;7565670;7565795;7731720;7929275;7935411;8051079;8157000;9020159;9733512;9858547", "class_list": "", "function": "CNK and HYP form a discrete dimer by their SAM domains to mediate RAF kinase signaling., [RefSeq, PubMed]; CNK2 through interaction with Raf and Rlf may function as a regulator of Ras signaling., [RefSeq, PubMed]; Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations., [RefSeq, PubMed]; Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders. Review article Publication Status: Online-Only, [RefSeq, PubMed]; May function as an adapter protein or regulator of Ras signaling pathways., [UniProtKB, PubMed]; Psychomotor development and attention problems caused by a splicing variant of CNKSR2. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]., [RefSeq]; This study enhances our knowledge of the CNKSR2 gene mutation spectrum and provides further information about the phenotypic characteristics of X-linked syndromic intellectual disability. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DGR4;B7ZLJ1;B9EG83;E7ESA4;O94976;Q5JPK4;Q5JPN0;Q8WXI1", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0070062 extracellular exosome", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0009966 regulation of signal transduction;GO:0007167 enzyme-linked receptor protein signaling pathway;GO:0099084 postsynaptic specialization organization", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q8WXI2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A23-1", "uniprot_id": [ { "id": "CPNE4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A23", "type": "external" } ], "mass": 62395.0, "length": 557, "protein_name": "Copine-4", "gene_name": "CPNE4", "organism": "Human", "refseq_name": "copine-4 isoform 1", "refseq_ac": [ { "id": "NP_001276041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276041", "type": "external" } ], "gene_names_uniprotkb": "CPNE4", "gene_names_refseq": "COPN4; CPN4; CPNE4", "protein_names_uniprotkb": "Copine-4; Copine IV; Copine-8", "protein_names_refseq": "copine 8; copine IV; copine-4 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:131034)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12522145;12670487;12949241;20220067;23301498;25328121;26992070;28228285;31844290;32357974;33912179;34357683;34847148;35051231", "class_list": "", "function": "Cloning, molecular characterization, and expression analysis. May have an important role to play in prostate regulation and development., [RefSeq, PubMed]; Molecular studies into cell biological role of Copine-4 in Retinal Ganglion Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes., [UniProtKB, UniProtKB]; Single nucleotide polymorphisms in CPEN4 gene is associated with Coronary Artery Disease., [RefSeq, PubMed]; This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DNC5;Q8TEX1", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q96A23-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BR5-1", "uniprot_id": [ { "id": "COA7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BR5", "type": "external" } ], "mass": 25709.0, "length": 231, "protein_name": "Cytochrome c oxidase assembly factor 7", "gene_name": "COA7", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly factor 7", "refseq_ac": [ { "id": "NP_075565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075565", "type": "external" } ], "gene_names_uniprotkb": "COA7; C1orf163; RESA1; SELRC1", "gene_names_refseq": "C1orf163; COA7; RESA1; SCAN3; SELRC1", "protein_names_uniprotkb": "Cytochrome c oxidase assembly factor 7; Beta-lactamase hcp-like protein; Respiratory chain assembly factor 1; Sel1 repeat-containing protein 1", "protein_names_refseq": "Sel1 repeat containing 1; beta-lactamase hcp-like protein; cytochrome c oxidase assembly factor 7 (putative); cytochrome c oxidase assembly factor 7; epididymis secretory sperm binding protein; hcp beta-lactamase-like protein C1orf163; respiratory chain assembly 1; respiratory chain assembly factor 1; sel1 repeat-containing protein 1", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 (Disease Ontology:DOID:0070465)", "pathway": " (hsa:65260)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "24333015;24714562;24715725;25880248;26154972;26728094;27683825;28218747;28510447;28832583;28904123;29242379;29437277;29632046;29718187;30192525;30885959;31844290;31848261;32157095;32161166;32357974;32938616;32983136;33912179;33968037;33981976;34357683;34509645;34932366;35210360;37750949", "class_list": "", "function": "C1orf163 is a novel factor important for the assembly of respiratory chain complexes in human mitochondria., [RefSeq, PubMed]; Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum., [RefSeq, PubMed]; Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly., [RefSeq, PubMed]; Pathogenic mutant versions of COA7 are imported slower than the wild-type protein, and mislocalized proteins are degraded in the cytosol by the proteasome., [RefSeq, PubMed]; Required for assembly of mitochondrial respiratory chain complex I and complex IV., [UniProtKB, PubMed]; The first patient carrying pathogenic mutations of COA7, causative of isolated COX deficiency and progressive neurological impairment is reported. It is also shown that COA7 is a soluble protein localized to the matrix, rather than in the intermembrane space as previously suggested., [RefSeq, PubMed]; The results of this study suggest that loss-of-function COA7 mutation is responsible for the phenotype of the presented patients, and this new entity of disease would be referred to as spinocerebellar ataxia with axonal neuropathy type 3., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0P6I7;Q9H9Z9", "ec_number_list": [], "go_molecular_function": "GO:0015035 protein-disulfide reductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly;GO:0008535 respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q96BR5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96I36-1", "uniprot_id": [ { "id": "COX14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96I36", "type": "external" } ], "mass": 6600.0, "length": 57, "protein_name": "Cytochrome c oxidase assembly protein COX14", "gene_name": "COX14", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly protein COX14", "refseq_ac": [ { "id": "NP_001244062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244062", "type": "external" } ], "gene_names_uniprotkb": "COX14; C12orf62", "gene_names_refseq": "C12orf62; COX14; MC4DN10; PCAG1", "protein_names_uniprotkb": "Cytochrome c oxidase assembly protein COX14", "protein_names_refseq": "COX14 cytochrome c oxidase assembly homolog; COX14, cytochrome c oxidase assembly factor; cytochrome c oxidase assembly homolog 14; cytochrome c oxidase assembly protein COX14", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 10 (Disease Ontology:DOID:0070496)", "pathway": " (hsa:84987); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "19503089;20877624;22243966;22342701;22356826;22424782;23125284;23260140;23292432;23345593;23481700;23746447;24403053;24715725;25418920;25576301;25604084;25926683;25959673;26321642;26375851;26758079;26929215;26992070;27184847;27600516;27693358;28082314;28199844;28218747;28228285;28330871;28649982;28832583;28834231;28904123;29154948;29242379;29393594;29557506;29632046;30315122;30410026;30429286;31154438;31536960;31844290;31848261;32157095;32317297;32375044;32387766;32938616;32983136;33592498;33717175;34087483;34211107;34561969;34969438;35580925;35750769;36241641;37217939;9843204", "class_list": "", "function": "COX14 was undetectable in COA3 subject fibroblasts, and that COA3 was undetectable in fibroblasts from a COX14 subject, demonstrating the interdependence of these two COX assembly factors, [RefSeq, PubMed]; Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]., [RefSeq]; While PCAG1 mRNA was highly expressed in prostate cancer tissues, it was almost absent in all common normal tissues and paired adjacent normal prostate tissues., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5G6", "ec_number_list": [], "go_molecular_function": "GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q96I36-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KJ9-1", "uniprot_id": [ { "id": "COX42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KJ9", "type": "external" } ], "mass": 20010.0, "length": 171, "protein_name": "Cytochrome c oxidase subunit 4 isoform 2, mitochondrial", "gene_name": "COX4I2", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 4 isoform 2, mitochondrial", "refseq_ac": [ { "id": "NP_115998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115998", "type": "external" } ], "gene_names_uniprotkb": "COX4I2; COX4L2", "gene_names_refseq": "COX4-2; COX4B; COX4I2; COX4L2; COX4; COXIV-2; dJ857M17.2", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 4 isoform 2, mitochondrial; COX IV-2; Cytochrome c oxidase subunit IV isoform 2", "protein_names_refseq": "COX IV-2; cytochrome c oxidase subunit 4 isoform 2, mitochondrial; cytochrome c oxidase subunit IV-like 2", "tax_id": 9606, "disease": "cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); pancreatic insufficiency-anemia-hyperostosis syndrome (MONDO:MONDO:0012992)", "pathway": " (hsa:84701); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 116, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11311561;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;186667;18692468;19113821;19268275;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20929863;21750704;21958598;22342701;22363791;22427940;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24718924;25564869;25579166;25926683;25959673;26321642;26652033;27693358;28082314;28199844;28330871;28698372;29154948;30379171;31536960;31998317;32317297;32375044;33672589;3427020;3475708;34969438;35750769;36064310;38149324;38422899;4288886;5666113;6094553;7979252;7989588;8119488;9843204;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB]; Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]., [RefSeq]; HIF1A transcriptional regulation of COX4I2 impacts angiogenesis in pheochromocytoma., [RefSeq, PubMed]; Identification of COX4I2 as a hypoxia-associated gene acting through FGF1 to promote EMT and angiogenesis in CRC. Publication Status: Online-Only, [RefSeq, PubMed]; The ratio of cytochrome c oxidase subunit 4 isoform 4I1 and 4I2 mRNA is changed in permanent atrial fibrillation., [RefSeq, PubMed]; Upregulation of COX4-2 via HIF-1alpha in Mitochondrial COX4-1 Deficiency. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6GTF4;Q9H0Z4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q96KJ9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MU5-1", "uniprot_id": [ { "id": "CQ077_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MU5", "type": "external" } ], "mass": 26264.0, "length": 243, "protein_name": "Uncharacterized protein CD300LD-AS1", "gene_name": "CD300LD-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CD300LD-AS1; C17orf77", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein CD300LD-AS1; CD300LD antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q96MU5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SM3-1", "uniprot_id": [ { "id": "CPXM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SM3", "type": "external" } ], "mass": 81668.0, "length": 734, "protein_name": "Probable carboxypeptidase X1", "gene_name": "CPXM1", "organism": "Human", "refseq_name": "probable carboxypeptidase X1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001171628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171628", "type": "external" } ], "gene_names_uniprotkb": "CPXM1; CPX1; CPXM; PRO9782", "gene_names_refseq": "CPX1; CPXM1; CPXM", "protein_names_uniprotkb": "Probable carboxypeptidase X1; 3.4.17.-; Metallocarboxypeptidase CPX-1", "protein_names_refseq": "carboxypeptidase X (M14 family), member 1; carboxypeptidase-like protein X1; metallocarboxypeptidase CPX-1; probable carboxypeptidase X1 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56265)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10073577;12975309;18077418;22424782;23481700;24190977;25502872;27006448;27726376;28063628;28228285;28467828;28514659;29242379;29508533;29557506;29632046;29741879;30315122;30429286;30459171;30524438;31154438;31844290;32350084;32502341;32897882;35051231;35154160;35697923;37074911", "class_list": "", "function": "May be involved in cell-cell interactions. No carboxypeptidase activity was found yet (By similarity)., [UniProtKB]; Role of CPXM1 in Impaired Glucose Metabolism and Ovarian Dysfunction in Polycystic Ovary Syndrome. Erratum:[Reprod Sci. 2023 Jan;30(1):332. doi: 10.1007/s43032-022-01021-x. PMID: 35799025], [RefSeq, PubMed]; These findings establish CPX-1 as a positive regulator of adipogenesis situated downstream of FGF-1/BAMBI that may contribute to hyperplastic adipose tissue expansion via affecting extracellular matrix remodeling., [RefSeq, PubMed]; This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010]., [RefSeq]; This paper deals with mouse CPXM., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 22, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q6P4G8;Q6UW65;Q9NUB5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q96SM3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SW2-1", "uniprot_id": [ { "id": "CRBN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SW2", "type": "external" } ], "mass": 50546.0, "length": 442, "protein_name": "Protein cereblon", "gene_name": "CRBN", "organism": "Human", "refseq_name": "protein cereblon isoform 2", "refseq_ac": [ { "id": "NP_001166953", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166953", "type": "external" } ], "gene_names_uniprotkb": "CRBN; AD-006", "gene_names_refseq": "CRBN; MRT2A; MRT2", "protein_names_uniprotkb": "Protein cereblon", "protein_names_refseq": "protein cereblon isoform 2; protein x 0001", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308); autosomal recessive intellectual developmental disorder 2 (Disease Ontology:DOID:0081178)", "pathway": " (hsa:51185); (R-HSA-9679191)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;10087012;10931946;11237011;15557513;16115318;16522641;17380424;17662961;18414909;20223979;22401777;22552008;22814904;23186163;23641311;24272870;24328678;24584101;25043012;25108355;25576301;25801024;26002965;26154972;26990986;26992070;27920218;28143899;28218747;28228285;28425720;28832583;28834231;28904123;29242379;29437277;29493099;29530986;29557506;29632711;29945920;30201761;30315122;30410026;30484775;30524438;30779550;31048504;31530632;31620128;31844290;31848261;31937595;32157095;32350084;32357974;32387766;32983136;33009960;33691108;33912179;33936100;33968037;33981976;34087483;34509645;34932366;35051231;35251023;35318648;35580925;36010968;36164994;36215666;36241641;36261529;36284347;37458657;37938771;38163319", "class_list": "", "function": "A nonsense mutation causing a premature stop codon in CRBN was found in a large kindred with mild mental retardation. ATP-dependent degradation of proteins may play a role in memory and learning., [RefSeq, PubMed]; CRBN is downregulated in lung cancer and negatively regulates TLR2, 4 and 7 stimulation in lung cancer cells., [RefSeq, PubMed]; Incidence of cereblon protein in intensive care patients: a cross-sectional study., [RefSeq, PubMed]; Nonsense mutation (R419X) CRBN disturbs the development of adult brain BK(Ca) isoforms. These changes are predicted to result in BK(Ca) channels with a higher intracellular Ca(2+) sensitivity, faster activation, and slower deactivation kinetics., [RefSeq, PubMed]; Substrate recognition component of a DCX (DDB1-CUL4-X-box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as MEIS2, ILF2 or GLUL (PubMed:26990986, PubMed:33009960). Normal degradation of key regulatory proteins is required for normal limb outgrowth and expression of the fibroblast growth factor FGF8 (PubMed:20223979, PubMed:24328678, PubMed:25043012, PubMed:25108355). Maintains presynaptic glutamate release and consequently cognitive functions, such as memory and learning, by negatively regulating large-conductance calcium-activated potassium (BK) channels in excitatory neurons (PubMed:18414909, PubMed:29530986). Likely to function by regulating the assembly and neuronal surface expression of BK channels via its interaction with KCNT1 (PubMed:18414909). May also be involved in regulating anxiety-like behaviors via a BK channel-independent mechanism (By similarity). Plays a negative role in TLR4 signaling by interacting with TRAF6 and ECSIT, leading to inhibition of ECSIT ubiquitination, an important step of the signaling (PubMed:31620128)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; The E3 ligase adapter cereblon targets the C-terminal cyclic imide degron., [RefSeq, PubMed]; This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]; This may suggest new functions of CRBN in cell nucleolus besides its mitochondria protease activity in cytoplasm., [RefSeq, PubMed]; Thrombospondin-1 is an endogenous substrate of cereblon responsible for immunomodulatory drug-induced thromboembolism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 9848, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R6H4;C9IZA9;C9JAH6;Q6AI62;Q6NVZ0;Q9UHW4", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0031464 Cul4A-RING E3 ubiquitin ligase complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0031334 positive regulation of protein-containing complex assembly;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0031333 negative regulation of protein-containing complex assembly;GO:0034766 negative regulation of monoatomic ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q96SW2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15125-1", "uniprot_id": [ { "id": "EBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15125", "type": "external" } ], "mass": 26353.0, "length": 230, "protein_name": "3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase", "gene_name": "EBP", "organism": "Human", "refseq_name": "3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase", "refseq_ac": [ { "id": "NP_006570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006570", "type": "external" } ], "gene_names_uniprotkb": "EBP", "gene_names_refseq": "CDPX2; CHO2; CPXD; CPX; D8D7I; EBP; MEND", "protein_names_uniprotkb": "3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; 3.3.2.11; 5.3.3.5; Cholestenol Delta-isomerase; Cholesterol-5,6-epoxide hydrolase subunit EBP; D8-D7 sterol isomerase; Delta(8)-Delta(7) sterol isomerase; Emopamil-binding protein", "protein_names_refseq": "3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase; 3-beta-hydroxysteroid-delta-8,delta-7-isomerase; Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome); D8-D7 sterol isomerase; cholestenol Delta-isomerase; cholesterol-5,6-epoxide hydrolase subunit EBP; delta(8)-Delta(7) sterol isomerase; emopamil binding protein (sterol isomerase); emopamil-binding protein; sterol 8-isomerase", "tax_id": 9606, "disease": "X-linked chondrodysplasia punctata 1 (Disease Ontology:DOID:0060292); Feingold syndrome (Disease Ontology:DOID:0060464); X-linked chondrodysplasia punctata 2 (Disease Ontology:DOID:0080352); MEND syndrome (Disease Ontology:DOID:0111865); chondrodysplasia punctata (Disease Ontology:DOID:2581)", "pathway": " (hsa:10682); (R-HSA-6807047); (R-HSA-9969901)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10391218;10391219;10406945;10942423;11237011;11493318;11519011;12189593;12503101;12618959;12760743;12812989;12829805;14404284;14506130;15175332;16784888;18176751;19608861;20615952;20949533;23481700;23584533;24459067;24700572;25418920;25813380;25814754;26114596;26154972;26929215;26992070;28467828;28510447;28514659;28832583;29237092;29242379;29393594;29557506;30059200;30315122;30410026;31165728;31381990;31492838;31844290;32105736;32157095;32265295;32357974;32938616;33141586;33592498;33717175;34357683;35513511;39531497;39534244;40596516;7706302;8663358;8798407;9465114;9894009", "class_list": "", "function": "Component of the microsomal antiestrogen binding site (AEBS), a multiproteic complex at the ER membrane that consists of an association between EBP and 7-dehydrocholesterol reductase/DHCR7 (PubMed:15175332, PubMed:20615952). This complex is responsible for cholesterol-5,6-epoxide hydrolase (ChEH) activity, which consists in the hydration of cholesterol-5,6-epoxides (5,6-EC) into cholestane-3beta,5alpha,6beta-triol (CT) (PubMed:20615952). The precise role of each component of this complex has not been described yet (PubMed:20615952)., [UniProtKB, PubMed, PubMed]; EBP adopts an unreported fold involving five transmembrane-helices (TMs) that creates a membrane cavity presenting a pharmacological binding site that accommodates multiple different ligands. Mutagenesis studies on specific residues abolish the isomerase activity and decrease the multidrug binding capacity. Publication Status: Online-Only, [RefSeq, PubMed]; Isomerase that catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers a catalytic step in the postlanosterol biosynthesis of cholesterol., [UniProtKB, PubMed, PubMed, PubMed]; The human sterol delta(8)-Delta(7) isomerase was expressed in P. pastoris to 200mgL-1. The membrane protein enzyme could be solubilized readily in dodecyl maltoside. The solubilized protein displayed a symmetric peak on size exclusion chromatography., [RefSeq, PubMed]; The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]., [RefSeq]; Thermostabilization of Membrane Proteins by Consensus Mutation: A Case Study for a Fungal Delta8-7 Sterol Isomerase., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6FGL3;Q6IBI9", "ec_number_list": [ { "id": "5.3.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.5", "type": "external" }, { "id": "3.3.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.11", "type": "external" }, { "id": "1.3.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.21", "type": "external" }, { "id": "1.3.1.70", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.70", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004769 steroid Delta-isomerase activity;GO:0047750 cholestenol delta-isomerase activity;GO:0000247 C-8 sterol isomerase activity;GO:0033963 cholesterol-5,6-oxide hydrolase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0043931 ossification involved in bone maturation;GO:0008203 cholesterol metabolic process;GO:0006695 cholesterol biosynthetic process;GO:0033489 cholesterol biosynthetic process via desmosterol;GO:0033490 cholesterol biosynthetic process via lathosterol", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q15125-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969S0-1", "uniprot_id": [ { "id": "S35B4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969S0", "type": "external" } ], "mass": 37424.0, "length": 331, "protein_name": "Nucleotide sugar transporter SLC35B4", "gene_name": "SLC35B4", "organism": "Human", "refseq_name": "nucleotide sugar transporter SLC35B4", "refseq_ac": [ { "id": "NP_116215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116215", "type": "external" } ], "gene_names_uniprotkb": "SLC35B4; PSEC0055; YEA4", "gene_names_refseq": "SLC35B4; YEA4; YEA", "protein_names_uniprotkb": "Nucleotide sugar transporter SLC35B4; Solute carrier family 35 member B4; UDP-xylose and UDP-N-acetylglucosamine transporter; YEA4 homolog", "protein_names_refseq": "UDP-Xylose/N-Acetylglucosamine transporter; UDP-xylose and UDP-N-acetylglucosamine transporter; YEA4 homolog; nucleotide sugar transporter SLC35B4; solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4", "tax_id": 9606, "disease": "", "pathway": " (hsa:84912); (R-HSA-727802)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10393322;11237011;11784306;15082721;15607426;15911612;16303743;16965264;21507882;21918738;25418920;25548167;25892735;26154972;26811146;26929215;26992070;27920218;28218747;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29557506;29632046;29682886;29867058;30315122;30429286;30458018;31154438;31175271;31217245;31844290;32157095;32265295;32938616;33912179;33968037;34357683;34932366;35051231;36010968;36241641;8889805", "class_list": "glycogene", "function": "A novel YAP1/SLC35B4 axis promotes gastric cancer (GC) development and progression, and this axis could be a potential candidate for prognosis and therapeutics in GC. Publication Status: Online-Only, [RefSeq, PubMed]; Antiporter that transports nucleotide sugars across the endoplasmic reticulum (ER) membrane in exchange for another nucleotide sugar. May couple UDP-alpha-D-glucuronate (UDP-GlcA) or UDP-alpha-D-xylose (UDP-Xyl) efflux to UDP-alpha-D-glucuronate (UDP-GlcA) influx into the ER lumen, which in turn stimulates glucuronidation and excretion of endobiotics and xenobiotics., [UniProtKB, PubMed, PubMed]; Decreased SLC35B4 expression led to increased gluconeogenesis in HepG2 cells., [RefSeq, PubMed]; Glucose levels activate SLC35B4 expression. This triggers a downstream effect via Hsp60 and other proteins. We hypothesize that the downstream effect on the proteins is mediated via altering the glycosylation pattern inside liver cells Publication Status: Online-Only, [RefSeq, PubMed]; Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008]., [RefSeq]; Has UDP-GlcA:UDP-GlcNAc antiporter activity., [UniProtKB, PubMed]; Our data showed that knock-out of the SLC35B4 gene does not affect major UDP-Xyl- and UDP-GlcNAc-dependent glycosylation pathways. Publication Status: Online-Only, [RefSeq, PubMed]; SLC35B4 single nucleotide polymorphism rs1646724 was associated with recurrence in patients with localized disease and survival in patients with advanced prostate cancer., [RefSeq, PubMed]; Subcellular localization of SLC35B4, [RefSeq, PubMed]; Transport capabilities for UDP-Glc and UDP-Xyl were determined with Golgi vesicles isolated from transformed cells, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 336, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1P3;A6NNS4;Q53GQ7;Q8TCU7;Q96K33", "ec_number_list": [], "go_molecular_function": "GO:0005462 UDP-N-acetylglucosamine transmembrane transporter activity;GO:0005464 UDP-xylose transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0015790 UDP-xylose transmembrane transport;GO:1990569 UDP-N-acetylglucosamine transmembrane transport;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q969S0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16832-1", "uniprot_id": [ { "id": "DDR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16832", "type": "external" } ], "mass": 96736.0, "length": 855, "protein_name": "Discoidin domain-containing receptor 2", "gene_name": "DDR2", "organism": "Human", "refseq_name": "discoidin domain-containing receptor 2 precursor", "refseq_ac": [ { "id": "NP_001014796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014796", "type": "external" } ], "gene_names_uniprotkb": "DDR2; NTRKR3; TKT; TYRO10", "gene_names_refseq": "DDR2-N; DDR2; MIG20a; NTRKR3; TKT; TYRO10; WRCN", "protein_names_uniprotkb": "Discoidin domain-containing receptor 2; 2.7.10.1; CD167 antigen-like family member B; Discoidin domain receptor 2; Discoidin domain-containing receptor tyrosine kinase 2; Neurotrophic tyrosine kinase, receptor-related 3; Receptor protein-tyrosine kinase TKT; Tyrosine-protein kinase TYRO10", "protein_names_refseq": "CD167 antigen-like family member B; cell migration-inducing protein 20; discoidin domain receptor 2; discoidin domain receptor family, member 2; discoidin domain-containing receptor 2 precursor; discoidin domain-containing receptor 2; discoidin domain-containing receptor tyrosine kinase 2; hydroxyaryl-protein kinase; migration-inducing gene 16 protein; neurotrophic tyrosine kinase receptor related 3; receptor protein-tyrosine kinase TKT; tyrosine-protein kinase TYRO10", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); spondylometaepiphyseal dysplasia, short limb-hand type (Disease Ontology:DOID:0112196); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); colon cancer (Disease Ontology:DOID:219); gallbladder adenocarcinoma (Disease Ontology:DOID:3500); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); adenosquamous gallbladder carcinoma (Disease Ontology:DOID:5627); hepatocellular carcinoma (Disease Ontology:DOID:684); osteoarthritis (Disease Ontology:DOID:8398); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); warburg-cinotti syndrome (MONDO:MONDO:0032579)", "pathway": " (hsa:4921); (R-HSA-3000171)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11847221;11884411;16140923;16186104;16186108;16626936;16806867;17344846;17665456;17703188;18083107;18201965;18578522;18669648;19110212;20004161;20068231;20223752;20564243;20734453;21568710;22807955;23822953;25173530;25502872;25645385;26154972;26463668;26992070;27600516;28161936;28676216;28855257;29242379;29330408;29393594;29557506;29709482;30061414;30099278;30429286;30449416;30573663;30779550;31844290;31848261;32157095;32350084;32357974;32488085;32938616;33298915;33592498;33968037;34138742;34357683;35051231;35154160;35580925;36010968;36215666;36713812;37996700;38154356;38538106;38665916;38914168;40596516;8247548;9659899;9659900", "class_list": "", "function": "DDR2 coordinates EMT and metabolic reprogramming as a shared effector of FOXQ1 and SNAI1., [RefSeq, PubMed]; DDR2 expression in breast cancer is associated with blood vessel invasion, basal-like tumors, tumor associated macrophages, regulatory T cells, detection mode and prognosis., [RefSeq, PubMed]; DDR2 signaling and mechanosensing orchestrate neuroblastoma cell fate through different transcriptome mechanisms., [RefSeq, PubMed]; DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression., [RefSeq, PubMed]; METTL3/YTHDF1 m[6]A axis promotes tumorigenesis by enhancing DDR2 expression in ovarian cancer., [RefSeq, PubMed]; This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]., [RefSeq]; Tyrosine kinase involved in the regulation of tissues remodeling (PubMed:30449416). It functions as a cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migration and tumor cell invasion. Promotes fibroblast migration and proliferation, and thereby contributes to cutaneous wound healing., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 93, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 16, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z730", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0005518 collagen binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity;GO:0038062 protein tyrosine kinase collagen receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0043235 receptor complex;GO:0016324 apical plasma membrane", "go_biological_process": "GO:1904385 cellular response to angiotensin;GO:2000491 positive regulation of hepatic stellate cell activation;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q16832-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y678-1", "uniprot_id": [ { "id": "COPG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y678", "type": "external" } ], "mass": 97718.0, "length": 874, "protein_name": "Coatomer subunit gamma-1", "gene_name": "COPG1", "organism": "Human", "refseq_name": "coatomer subunit gamma-1", "refseq_ac": [ { "id": "NP_057212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057212", "type": "external" } ], "gene_names_uniprotkb": "COPG1; COPG", "gene_names_refseq": "COPG1; COPG; IMD128", "protein_names_uniprotkb": "Coatomer subunit gamma-1; Gamma-1-COP; Gamma-1-coat protein", "protein_names_refseq": "COPI coat complex subunit gamma 1; coat protein gamma-cop; coatomer protein complex subunit gamma 1; coatomer protein complex, subunit gamma; coatomer subunit gamma-1; coatomer subunit gamma; gamma-1-COP; gamma-1-coat protein; gamma-COP; gamma-coat protein", "tax_id": 9606, "disease": "immunodeficiency 128 (Disease Ontology:DOID:0061093); COVID-19 (Disease Ontology:DOID:0080600); combined immunodeficiency (Disease Ontology:DOID:0111962); polyclonal hypergammaglobulinemia (Disease Ontology:DOID:2344)", "pathway": " (hsa:22820); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 239, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;10931946;11035033;11056392;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12634853;14504276;14654841;14690497;14742712;15004565;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17074750;17113389;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18446792;18524849;18809720;1898986;18991276;19015319;19109418;19151722;19164740;19296914;19369418;1957170;19631211;19758564;20005805;20068231;20136777;20357002;20427317;20462495;20534429;20637885;20674546;21209280;21219331;21550981;21689688;21844168;22013193;22094269;22304919;22424782;22544926;22898188;23186163;23301498;23396477;23481700;23783831;23839779;24119662;24366607;24714562;24715725;24806965;25364732;25418920;25436559;25492864;25576301;25645385;25880248;25892735;26154972;26375851;26768311;26992070;27543614;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28352266;28514659;28649982;28832583;28834231;28860189;28904123;29242379;29314611;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29603667;29632711;29786170;29789417;30315122;30397120;30410026;30429286;30459710;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33529166;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34725712;34932366;35051231;35083852;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38665916;40914422;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "Combined immunodeficiency due to a mutation in the gamma1 subunit of the coat protein I complex., [RefSeq, PubMed]; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte triglyceride lipase (PNPLA2) with the lipid droplet surface to mediate lipolysis (By similarity)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "A8K6M8;B3KMF6;Q54AC4", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0051683 establishment of Golgi localization;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0009306 protein secretion", "synthesized_glycan_count": 0, "hit_score": 25.9, "record_id": "Q9Y678-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LX8-1", "uniprot_id": [ { "id": "ZN597_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LX8", "type": "external" } ], "mass": 48076.0, "length": 424, "protein_name": "Zinc finger protein 597", "gene_name": "ZNF597", "organism": "Human", "refseq_name": "zinc finger protein 597", "refseq_ac": [ { "id": "NP_689670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689670", "type": "external" } ], "gene_names_uniprotkb": "ZNF597", "gene_names_refseq": "HIT-4; ZNF597", "protein_names_uniprotkb": "Zinc finger protein 597", "protein_names_refseq": "zinc finger protein 597", "tax_id": 9606, "disease": "", "pathway": " (hsa:146434); (R-HSA-212436)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16467561;16606702;16719718;19664994;21593219;2163759;29769354;30429286;31530632;32157095;32938616;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and maternally expressed. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q96LX8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q701N4-1", "uniprot_id": [ { "id": "KRA52_HUMAN", "url": "https://www.uniprot.org/uniprot/Q701N4", "type": "external" } ], "mass": 16271.0, "length": 177, "protein_name": "Keratin-associated protein 5-2", "gene_name": "KRTAP5-2", "organism": "Human", "refseq_name": "keratin-associated protein 5-2", "refseq_ac": [ { "id": "NP_001004325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004325", "type": "external" } ], "gene_names_uniprotkb": "KRTAP5-2; KAP5-8; KAP5.2; KRTAP5-8; KRTAP5.2; KRTAP5.8", "gene_names_refseq": "KRTAP5-2; KRTAP5-8; KRTAP5.2", "protein_names_uniprotkb": "Keratin-associated protein 5-2; Keratin-associated protein 5-8; Keratin-associated protein 5.2; Keratin-associated protein 5.8; Ultrahigh sulfur keratin-associated protein 5.2", "protein_names_refseq": "keratin-associated protein 5-2; keratin-associated protein 5-8; keratin-associated protein 5.2; keratin-associated protein 5.8; ultrahigh sulfur keratin-associated protein 5.2", "tax_id": 9606, "disease": "", "pathway": " (hsa:440021); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "15144888;15373777;16382671;1691188;1694855;1714783;17521629;23481192;23590728;2414304;25208914;37217939;9468612", "class_list": "", "function": "CK7 and Cam 5.2 expression may occur in SCC. A panel including Ber-Ep4 is advisable for immunohistochemical differentiation of EPD from SCC., [RefSeq, PubMed]; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A9JTZ1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q701N4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53QW1-1", "uniprot_id": [ { "id": "TEX44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53QW1", "type": "external" } ], "mass": 41589.0, "length": 395, "protein_name": "Testis-expressed protein 44", "gene_name": "TEX44", "organism": "Human", "refseq_name": "testis-expressed protein 44", "refseq_ac": [ { "id": "NP_689827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689827", "type": "external" } ], "gene_names_uniprotkb": "TEX44; C2orf57", "gene_names_refseq": "C2orf57; TEX44", "protein_names_uniprotkb": "Testis-expressed protein 44", "protein_names_refseq": "testis-expressed protein 44; uncharacterized protein C2orf57", "tax_id": 9606, "disease": "", "pathway": " (hsa:165100)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "26168773;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N4F2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q53QW1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07358-1", "uniprot_id": [ { "id": "CO8B_HUMAN", "url": "https://www.uniprot.org/uniprot/P07358", "type": "external" } ], "mass": 66948.0, "length": 591, "protein_name": "Complement component C8 beta chain", "gene_name": "C8B", "organism": "Human", "refseq_name": "complement component C8 beta chain isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_000057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000057", "type": "external" } ], "gene_names_uniprotkb": "C8B", "gene_names_refseq": "C82; C8B", "protein_names_uniprotkb": "Complement component C8 beta chain; Complement component 8 subunit beta", "protein_names_refseq": "complement component 8 subunit beta; complement component 8, beta polypeptide; complement component C8 beta chain isoform 1 preproprotein; complement component C8 beta chain", "tax_id": 9606, "disease": "type II complement component 8 deficiency (Disease Ontology:DOID:0060302); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:732); (R-HSA-166665); (R-HSA-977606)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10531307;10551839;1067618;11237011;11694537;11939578;12055245;1386357;16079145;16192651;16335952;16999828;17182573;17505110;19159218;19434484;21454577;21788512;22802338;22832194;23090970;23487775;2420889;2465906;2466593;2481448;26841837;27052168;2820472;293688;293746;2956252;29632711;29671580;2971659;29741879;301546;3052276;30552328;31061395;34667172;3651397;36797260;37074911;3848661;39814882;39914456;4098172;6177822;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6833260;6906228;702059;7391570;7440581;7542572;7594510;760802;761607;7690834;7691959;8098723;8131848;8345200;8495193;8786315;9038722;978134", "class_list": "", "function": "Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis. The MAC is initiated by proteolytic cleavage of C5 into complement C5b in response to the classical, alternative, lectin and GZMK complement pathways. The complement pathways consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. C8B, together with C8A and C8G, inserts into the target membrane, but does not form pores by itself. During MAC assembly, associates with C5b, C6 and C7 to form the C5b8 intermediate complex that inserts into the target membrane and traverses the bilayer increasing membrane rigidity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 4, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 4, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 4, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 4, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A1L4K7", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006955 immune response;GO:0055085 transmembrane transport;GO:0031640 killing of cells of another organism;GO:0050778 positive regulation of immune response;GO:0006958 complement activation, classical pathway", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P07358-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1010000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969E8-1", "uniprot_id": [ { "id": "TSR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969E8", "type": "external" } ], "mass": 20894.0, "length": 191, "protein_name": "Pre-rRNA-processing protein TSR2 homolog", "gene_name": "TSR2", "organism": "Human", "refseq_name": "pre-rRNA-processing protein TSR2 homolog isoform a", "refseq_ac": [ { "id": "NP_477511", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477511", "type": "external" } ], "gene_names_uniprotkb": "TSR2", "gene_names_refseq": "DBA14; DT1P1A10; TSR2; WGG1", "protein_names_uniprotkb": "Pre-rRNA-processing protein TSR2 homolog", "protein_names_refseq": "TSR2, 20S rRNA accumulation, homolog; WGG motif containing 1; escortin; pre-rRNA-processing protein TSR2 homolog isoform a; pre-rRNA-processing protein TSR2 homolog", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis (Disease Ontology:DOID:0111897)", "pathway": " (hsa:90121)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "21790011;23301498;24942156;29437277;29557506;30201955;30429286;31092671;31844290;32157095;32938616;33592498;33691108;33912179;33968037;35051231;36284347;38814181;38862449", "class_list": "", "function": "A likely pathogenic X-linked mutation affecting a highly conserved residue was found in TSR2 and De novo mutations affecting the RPS28 start codon were found in two unrelated probands, identifying RPS28 as a novel disease gene., [RefSeq, PubMed]; ES26-ESS and Tsr2 are components of a nuclear sorting system that co-evolved with the emergence of the nucleocytoplasmic barrier and transport carriers Publication Status: Online-Only, [RefSeq, PubMed]; Higher expression of TSR2 aggravating hypertension via the PPAR signaling pathway., [RefSeq, PubMed]; May be involved in 20S pre-rRNA processing., [UniProtKB]; The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]., [RefSeq]; This data for the first time suggests that TSR2 is involved in the NF-kappaB signaling pathway and may regulate apoptosis., [RefSeq, PubMed]; [TSR2 overexpression inhibits proliferation and invasion of gastric cancer cells by downregulating the PI3K/AKT signaling pathway]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q969E8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13536-1", "uniprot_id": [ { "id": "CROC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13536", "type": "external" } ], "mass": 17231.0, "length": 156, "protein_name": "Protein CROC-4", "gene_name": "MIR9-1HG", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MIR9-1HG; C1orf61; CROC4", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein CROC-4; Contingent replication of cDNA 4; MIR9-1 host gene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "10995546;28904123;35051231", "class_list": "", "function": "May play a role in FOS signaling pathways involved in development and remodeling of neurons. Promotes transcription of the FOS promoter., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1ALL5;B1ALL8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q13536-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q496F6-1", "uniprot_id": [ { "id": "CLM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q496F6", "type": "external" } ], "mass": 22918.0, "length": 205, "protein_name": "CMRF35-like molecule 2", "gene_name": "CD300E", "organism": "Human", "refseq_name": "CMRF35-like molecule 2 precursor", "refseq_ac": [ { "id": "NP_852114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852114", "type": "external" } ], "gene_names_uniprotkb": "CD300E; CD300LE; CLM2; CMRF35A5; IREM2", "gene_names_refseq": "CD300E; CD300LE; CLM-2; CLM2; CMRF35-A5; IREM-2; IREM2; PIgR-2; PIgR2", "protein_names_uniprotkb": "CMRF35-like molecule 2; CD300 antigen-like family member E; CLM-2; CMRF35-A5; IREM-2; Immune receptor expressed on myeloid cells 2; PIgR-2; PIgR2; Poly-Ig receptor 2; Polymeric immunoglobulin receptor 2", "protein_names_refseq": "CD300 antigen-like family member E; CD300e antigen; CMRF35-like molecule 2 precursor; CMRF35-like molecule 2; immune receptor expressed on myeloid cells 2; poly-Ig receptor 2; polymeric immunoglobulin receptor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:342510); (R-HSA-198933); (R-HSA-2172127)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10049942;10449773;10499918;10604985;10746781;10940905;11237011;11265639;11489943;11513152;11556966;11602640;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12668644;12776204;14707061;14719373;14970179;15034010;15136729;15155468;15187158;15265913;15304001;15534202;15541655;15557162;15580655;15607800;15778510;15781451;15800062;15851719;15864273;15884055;15940674;16014749;16091383;16129954;16339513;16380601;16551255;16623599;16737824;16754721;16893496;16904340;16920917;16928187;16933987;16959974;17012248;17045824;17057721;17110943;17202323;17237375;17337780;17483134;17641029;18031695;18037897;18055229;18209062;18234675;18593354;18624290;18629938;19149696;19359216;19592130;19858347;20093094;20730098;20865034;20890284;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;28005267;28832583;29557506;30459171;33020563;35580925;7531291;7542404;8178173;8995416;9285412;9314561;9490415;9625766;9655483;9700512;9730896", "class_list": "", "function": "CD300E expression is significantly upregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; IREM-2 is a novel activating immunoglobulin-like receptor expressed on mature hemopoietic cells of the monocytic and myeloid dendritic cell lineages., [RefSeq, PubMed]; Probably acts as an activating receptor., [UniProtKB, PubMed]; The immune receptor CD300e negatively regulates T cell activation by impairing the STAT1-dependent antigen presentation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the CD300 glycoprotein family of cell surface proteins expressed on myeloid cells. The protein interacts with the TYRO protein tyrosine kinase-binding protein and is thought to act as an activating receptor. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DNS1;Q7Z7I3", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0019811 cocaine binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0002376 immune system process;GO:0045088 regulation of innate immune response", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q496F6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TA50-1", "uniprot_id": [ { "id": "CPTP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TA50", "type": "external" } ], "mass": 24365.0, "length": 214, "protein_name": "Ceramide-1-phosphate transfer protein", "gene_name": "CPTP", "organism": "Human", "refseq_name": "ceramide-1-phosphate transfer protein", "refseq_ac": [ { "id": "NP_001025056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025056", "type": "external" } ], "gene_names_uniprotkb": "CPTP; GLTPD1", "gene_names_refseq": "CPTP; GLTPD1", "protein_names_uniprotkb": "Ceramide-1-phosphate transfer protein; CPTP; GLTP domain-containing protein 1; Glycolipid transfer protein domain-containing protein 1", "protein_names_refseq": "GLTP domain-containing protein 1; ceramide-1-phosphate transfer protein; glycolipid transfer protein domain containing 1; glycolipid transfer protein domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80772); (R-HSA-9845576)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "11237011;15107860;15329726;16103222;17105344;17687330;17980653;18317235;19913121;19940249;20068231;20628086;23290777;23481700;23791178;23863933;24715725;25576301;26154972;26202220;26811146;26992070;27920218;28011644;28218747;28228285;28832583;28834231;28904123;29164996;29242379;29437277;29485866;29508533;29632711;30315122;30429286;30484775;31154438;31217245;31568712;31844290;31848261;31937595;32157095;32161166;32339554;32897882;32938616;33141586;33298915;33781749;33912179;33936100;33968037;33981976;34171305;34211107;34499882;34808193;35051231;35580925;35982909;36215666;36241641;37938771;40307207", "class_list": "", "function": "A ubiquitously expressed lipid transfer protein, human GLTPD1, named here CPTP, is shown to specifically transfer C1P between membranes., [RefSeq, PubMed]; Ceramide-1-phosphate and its transfer proteins in eukaryotes. Review article, [RefSeq, PubMed]; Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides., [RefSeq, PubMed]; Ceramide-1-phosphate transfer protein promotes sphingolipid reorientation needed for binding during membrane interaction., [RefSeq, PubMed]; Human CPTP promotes growth and metastasis via sphingolipid metabolite ceramide and PI4KA/AKT signaling in pancreatic cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the intracellular transfer of ceramide-1-phosphate (C1P) between organelle membranes and the cell membrane. Required for normal structure of the Golgi stacks. Can bind phosphoceramides with a variety of aliphatic chains, but has a preference for lipids with saturated C16:0 or monounsaturated C18:1 aliphatic chains, and is inefficient with phosphoceramides containing lignoceryl (C24:0). Plays a role in the regulation of the cellular levels of ceramide-1-phosphate, and thereby contributes to the regulation of phospholipase PLA2G4A activity and the release of arachidonic acid. Has no activity with galactosylceramide, lactosylceramide, sphingomyelin, phosphatidylcholine, phosphatidic acid and ceramide. C1P transfer is stimulated by phosphatidylserine in C1P source vesicles (PubMed:28011644). Regulates autophagy, inflammasome mediated IL1B and IL18 processing, and pyroptosis, but not apoptosis (PubMed:29164996)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These findings identify human CPTP as an endogenous regulator of early-stage autophagosome assembly and inflammasome-driven, pro-inflammatory cytokine generation and release., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q4G0E6;Q7L5A4", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:1902387 ceramide 1-phosphate binding;GO:1902388 ceramide 1-phosphate transfer activity;GO:0008289 lipid binding;GO:0120013 lipid transfer activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane;GO:0010008 endosome membrane;GO:0005640 nuclear outer membrane", "go_biological_process": "GO:0035627 ceramide transport;GO:0032691 negative regulation of interleukin-1 beta production;GO:0010507 negative regulation of autophagy;GO:1902389 ceramide 1-phosphate transport;GO:0120009 intermembrane lipid transfer", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q5TA50-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14050-1", "uniprot_id": [ { "id": "CO9A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14050", "type": "external" } ], "mass": 63616.0, "length": 684, "protein_name": "Collagen alpha-3(IX) chain", "gene_name": "COL9A3", "organism": "Human", "refseq_name": "collagen alpha-3(IX) chain precursor", "refseq_ac": [ { "id": "NP_001844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001844", "type": "external" } ], "gene_names_uniprotkb": "COL9A3", "gene_names_refseq": "COL9A3; DJ885L7.4.1; EDM3; IDD; MED; STL6", "protein_names_uniprotkb": "Collagen alpha-3(IX) chain", "protein_names_refseq": "collagen IX, alpha-3 polypeptide; collagen alpha-3(IX) chain precursor; collagen alpha-3(IX) chain; collagen type IX proteoglycan; collagen, type IX, alpha 3", "tax_id": 9606, "disease": "medulloblastoma (Disease Ontology:DOID:0050902); ductal carcinoma in situ (Disease Ontology:DOID:0060074); multiple epiphyseal dysplasia 3 (Disease Ontology:DOID:0070304); Stickler syndrome (Disease Ontology:DOID:0080046); colorectal carcinoma (Disease Ontology:DOID:0080199); Fanconi anemia complementation group D1 (Disease Ontology:DOID:0111089); prostate cancer (Disease Ontology:DOID:10283); atrophy of testis (Disease Ontology:DOID:11994); Fanconi anemia (Disease Ontology:DOID:13636); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); nephroblastoma (Disease Ontology:DOID:2154); osteochondrodysplasia (Disease Ontology:DOID:2256); ovarian cancer (Disease Ontology:DOID:2394); high grade glioma (Disease Ontology:DOID:3070); osteosarcoma (Disease Ontology:DOID:3347); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); infertility (Disease Ontology:DOID:5223); hereditary breast ovarian cancer syndrome (Disease Ontology:DOID:5683); endometrial serous adenocarcinoma (Disease Ontology:DOID:5750); uveal melanoma (Disease Ontology:DOID:6039); cataract (Disease Ontology:DOID:83); skin melanoma (Disease Ontology:DOID:8923); degenerative disc disease (Disease Ontology:DOID:90); colorectal cancer (Disease Ontology:DOID:9256); Stickler syndrome, type 6 (MONDO:MONDO:0031047)", "pathway": " (hsa:1299); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-186797); (R-HSA-2022090); (R-HSA-216083); (R-HSA-3000178); (R-HSA-419037); (R-HSA-8948216)", "pathway_count": 9, "publication_count": 243, "publication_id_list": "10022829;10049780;10090888;10209034;10339611;10366422;10428822;10438935;10479448;10508235;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11084047;11119712;11158588;11237011;11259413;11308397;11518510;11565064;11572855;11577169;11713259;11927537;11980922;12225811;12369853;12473679;12475640;12482924;12496264;12538485;12579531;12585966;12646579;12682293;12765789;12807887;1311092;1323838;1376317;1400327;14500733;14602708;14715956;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15615512;15713743;15767546;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16267048;16293224;16331269;1639841;16436588;16474853;16493581;16591531;16731529;16754661;16825197;16933105;1704217;17088321;171650;17339034;17367763;17588949;17604334;17943726;17968485;18059411;18487197;18559524;18622425;18710925;18775695;19075007;19502598;19564526;19693541;20033473;2005102;2010551;20470363;2059554;20705068;20813817;21251937;21376233;21593211;21642437;2169335;21789315;21878990;21935455;21967573;22134916;22241472;22382088;2253219;22539938;22884367;22933705;2307289;23374253;23583652;2364322;2412224;2420006;24273071;2430969;24715725;25328409;2537292;25381065;2543975;2548603;2551898;25597754;27862975;2809592;2834383;28435517;2845110;29093181;29137923;29242379;29263244;29408302;29557506;29964125;3038863;30389923;30450842;30524438;31085175;31090205;31154438;3173483;3223920;32938616;33043033;33078831;33570243;33633367;34171305;35051231;35241111;35580925;38166944;3905801;3938630;6193777;6258630;6270089;6307276;6439184;6694361;6809411;710450;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7852349;7890717;8002934;8118028;8207089;8262246;8344274;8440685;8463259;8560266;8576151;8586434;8798654;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9164858;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9443892;9545296;9560306;9565552;9582318;9651395;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation. Publication Status: Online-Only, [RefSeq, PubMed]; Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment., [RefSeq, PubMed]; Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of hyaline cartilage and vitreous of the eye., [UniProtKB]; This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]., [RefSeq]; Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 29, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q13681;Q9H4G9;Q9UPE2", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005604 basement membrane;GO:0005594 collagen type IX trimer", "go_biological_process": "GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 24.4, "record_id": "Q14050-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2R0-1", "uniprot_id": [ { "id": "COA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2R0", "type": "external" } ], "mass": 11731.0, "length": 106, "protein_name": "Cytochrome c oxidase assembly factor 3 homolog, mitochondrial", "gene_name": "COA3", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly factor 3 homolog, mitochondrial", "refseq_ac": [ { "id": "NP_001035521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035521", "type": "external" } ], "gene_names_uniprotkb": "COA3; CCDC56; HSPC009; MITRAC12", "gene_names_refseq": "CCDC56; COA3; COX25; HSPC009; MC4DN14; MITRAC12; hCOA3", "protein_names_uniprotkb": "Cytochrome c oxidase assembly factor 3 homolog, mitochondrial; Coiled-coil domain-containing protein 56; Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa", "protein_names_refseq": "coiled-coil domain-containing protein 56; cytochrome c oxidase assembly factor 3 homolog, mitochondrial; cytochrome c oxidase assembly protein 3 homolog, mitochondrial; mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 14 (Disease Ontology:DOID:0070499)", "pathway": " (hsa:28958); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "11237011;19503089;20068231;22342701;22356826;22424782;23125284;23260140;23345593;23362268;23746447;24403053;25505266;25576301;25604084;25926683;25959673;26321642;26358295;26811146;26992070;27600516;27693358;27791355;27846572;28082314;28199844;28218747;28228285;28330871;28832583;28834231;28904123;29154948;29242379;29331515;29393594;29493099;29557506;29632046;29789417;30315122;30410026;30429286;31154438;31536960;31548259;31611695;31844290;31848261;31998317;32157095;32317297;32375044;32387766;32488085;32938616;32983136;33141586;33298915;33537174;33592498;33968037;34357683;34509645;34561969;34969438;35154160;35580925;35750769;36010968;36241641;37938771;9843204", "class_list": "", "function": "Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly., [UniProtKB, PubMed]; Data show that mitochondrial protein ccdc56/MITRAC12/COA3 positively regulates mitochondrial fission by recruiting the fission factor Drp1., [RefSeq, PubMed]; Data suggest that COX assembly factor 3 (hCOA3) is a disordered protein and that the flexibility of hCOA3 is crucial for its interaction with other proteins to favor mitochondrial protein translocation and assembly of proteins involved in the respiratory chain., [RefSeq, PubMed]; HCOA3 stabilizes COX1 co-translationally and promotes its assembly with COX partner subunits., [RefSeq, PubMed]; Human ortholog of fungal COA3 (Cytochrome oxidase assembly) Publication Status: Online-Only, [RefSeq, PubMed]; Required for assembly of cytochrome c oxidase (complex IV)., [UniProtKB, UniProtKB]; Study comprehensively identified mammalian cytochrome c oxidase assembly factors. These analyses led to the discoveryof MITRAC12, which defines the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase)complexes., [RefSeq, PubMed]; This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K498", "ec_number_list": [], "go_molecular_function": "GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly;GO:0070131 positive regulation of mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9Y2R0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70UQ0-1", "uniprot_id": [ { "id": "IKIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70UQ0", "type": "external" } ], "mass": 39309.0, "length": 350, "protein_name": "Inhibitor of nuclear factor kappa-B kinase-interacting protein", "gene_name": "IKBIP", "organism": "Human", "refseq_name": "inhibitor of nuclear factor kappa-B kinase-interacting protein isoform 1", "refseq_ac": [ { "id": "NP_710154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_710154", "type": "external" } ], "gene_names_uniprotkb": "IKBIP; IKIP", "gene_names_refseq": "IKBIP; IKIP", "protein_names_uniprotkb": "Inhibitor of nuclear factor kappa-B kinase-interacting protein; I kappa-B kinase-interacting protein; IKBKB-interacting protein; IKK-interacting protein", "protein_names_refseq": "I kappa B kinase interacting protein; IKK interacting protein; i kappa-B kinase-interacting protein; inhibitor of nuclear factor kappa-B kinase-interacting protein isoform 1; inhibitor of nuclear factor kappa-B kinase-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:121457); (R-HSA-9758274)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;15389287;18991276;19159218;20434986;21703539;21872626;22424782;22661428;24190977;25576301;25880248;26154972;26240016;26620909;26992070;27426725;27862975;28218747;28904123;29437277;29493099;29557506;29671580;29741879;30315122;30410026;30429286;31217245;31826938;31844290;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33654074;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34725712;34897031;34932366;35051231;35251023;35561310;35580925;36010968;36215666;36244542;37024442;37074911;37217939;37938771;38665916;38914958;40596516", "class_list": "", "function": "Hsa_circ_0072389, hsa_circ_0072386, hsa_circ_0008621, hsa_circ_0072387, and hsa_circ_0072391 aggravate glioma via miR-338-5p/IKBIP., [RefSeq, PubMed]; IKBIP is a Predictive Biomarker Related to Immunosuppressive Microenvironment in Digestive System Malignancies., [RefSeq, PubMed]; IKBIP promotes tumor development via the akt signaling pathway in esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; IKBIP, a novel glioblastoma biomarker, maintains abnormal proliferation of tumor cells by inhibiting the ubiquitination and degradation of CDK4., [RefSeq, PubMed]; Target of p53/TP53 with pro-apoptotic function., [UniProtKB, PubMed]; We conclude that IKIP is a novel p53 target gene with proapoptotic function.(IKIP1 protein, human), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 31, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZWH4;Q70UP9;Q86V91;Q96ND2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0010165 response to X-ray", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q70UQ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50616-1", "uniprot_id": [ { "id": "TOB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P50616", "type": "external" } ], "mass": 38155.0, "length": 345, "protein_name": "Protein Tob1", "gene_name": "TOB1", "organism": "Human", "refseq_name": "protein Tob1 isoform 1", "refseq_ac": [ { "id": "NP_001230806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230806", "type": "external" } ], "gene_names_uniprotkb": "TOB1; TOB; TROB1", "gene_names_refseq": "APRO5; APRO6; PIG49; TOB1; TOB; TROB1; TROB", "protein_names_uniprotkb": "Protein Tob1; Transducer of erbB-2 1", "protein_names_refseq": "proliferation-inducing gene 49; protein Tob1 isoform 1; protein Tob1; transducer of erbB-2 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10140)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "12050114;12151396;18669648;19276069;19690332;20068231;20112406;21336257;23236473;24715725;25576301;26811146;26992070;28228285;28657654;28904123;29493099;29557506;30315122;30429286;30484775;30779550;31092671;31154438;31497236;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32938616;32983136;33912179;33936100;33968037;34087483;34171305;34185709;35051231;35186488;35254053;35513511;35580925;36002674;36010968;36215666;37541260;38617839;38665916;39261761;8632892", "class_list": "", "function": "Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex (PubMed:23236473, PubMed:8632892). Mediates CPEB3-accelerated mRNA deadenylation by binding to CPEB3 and recruiting CNOT7 which leads to target mRNA deadenylation and decay (PubMed:21336257)., [UniProtKB, PubMed, PubMed, PubMed]; Involvement of TOB1 on autophagy in gastric cancer AGS cells via decreasing the activation of AKT/mTOR signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Methylation Mediated Downregulation of TOB1-AS1 and TOB1 Correlates with Malignant Progression and Poor Prognosis of Esophageal Squamous Cell Carcinoma., [RefSeq, PubMed]; TOB1 inhibits the gastric cancer progression by focal adhesion pathway and ERK pathway based on transcriptional and metabolic sequencing. Publication Status: Online-Only, [RefSeq, PubMed]; TOB1 modulates neutrophil phenotypes to influence gastric cancer progression and immunotherapy efficacy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the transducer of erbB-2 /B-cell translocation gene protein family. Members of this family are anti-proliferative factors that have the potential to regulate cell growth. The encoded protein may function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R9T0;D3DTY3;Q4KMQ0", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0030971 receptor tyrosine kinase binding;GO:0046332 SMAD binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030014 CCR4-NOT complex", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0017148 negative regulation of translation;GO:0010468 regulation of gene expression;GO:0060213 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening;GO:1900153 positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P50616-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36382-1", "uniprot_id": [ { "id": "CXA5_HUMAN", "url": "https://www.uniprot.org/uniprot/P36382", "type": "external" } ], "mass": 40380.0, "length": 358, "protein_name": "Gap junction alpha-5 protein", "gene_name": "GJA5", "organism": "Human", "refseq_name": "gap junction alpha-5 protein", "refseq_ac": [ { "id": "NP_005257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005257", "type": "external" } ], "gene_names_uniprotkb": "GJA5", "gene_names_refseq": "ATFB11; CX40; GJA5", "protein_names_uniprotkb": "Gap junction alpha-5 protein; Connexin-40; Cx40", "protein_names_refseq": "connexin 40; gap junction alpha-5 protein; gap junction protein alpha 5 40kDa", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); atrial fibrillation (Disease Ontology:DOID:0060224); overactive bladder syndrome (Disease Ontology:DOID:0070355); atrial standstill 1 (Disease Ontology:DOID:0080662); hypertension (Disease Ontology:DOID:10763); renovascular hypertension (Disease Ontology:DOID:1591); glomerulonephritis (Disease Ontology:DOID:2921); ureteral obstruction (Disease Ontology:DOID:5199); myocardial infarction (Disease Ontology:DOID:5844); tetralogy of Fallot (Disease Ontology:DOID:6419); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2702); (R-HSA-190861)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10191254;10581143;10728420;11237011;15536180;16790700;17200141;1850831;20650941;27862975;29557506;30429286;31154438;31848261;32938616;33392160;33518654;33664309;35051231;37382580;37813207;7929580;7966354", "class_list": "", "function": "A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes. Publication Status: Online-Only, [RefSeq, PubMed]; Association between polymorphisms in connexin 40 gene (Cx40) and risk of atrial fibrillation: a meta-analysis based on 3,452 subjects., [RefSeq, PubMed]; BIRC5, GAJ5, and lncRNA NPHP3-AS1 Are Correlated with the Development of Atrial Fibrillation-Valvular Heart Disease., [RefSeq, PubMed]; DNMT1-mediated NR3C1 DNA methylation enables transcription activation of connexin40 and augments angiogenesis during colorectal cancer progression., [RefSeq, PubMed]; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell., [UniProtKB]; Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells. Forms homotypic and heterotypic channels gated by transjunctional voltage. Involved in intercellular innate immune signaling. Mediates translocation of 2',3'-cGAMP and 2',5'-oligoadenylates (2-5A) second messengers from virus-infected cells to macrophages and uninfected neighboring cells to propagate and amplify the antiviral immune response., [UniProtKB, UniProtKB]; This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T3B6;Q5U0N6", "ec_number_list": [], "go_molecular_function": "GO:0071253 connexin binding;GO:0097718 disordered domain specific binding;GO:0055077 gap junction hemi-channel activity;GO:0086020 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling;GO:0086075 gap junction channel activity involved in cardiac conduction electrical coupling", "go_cellular_component": "GO:0005886 plasma membrane;GO:0014704 intercalated disc;GO:0042995 cell projection;GO:0005921 gap junction;GO:0005922 connexin complex", "go_biological_process": "GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization;GO:0001525 angiogenesis;GO:0007267 cell-cell signaling;GO:0007507 heart development;GO:0042311 vasodilation", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P36382-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWA5-1", "uniprot_id": [ { "id": "CTL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWA5", "type": "external" } ], "mass": 80124.0, "length": 706, "protein_name": "Choline transporter-like protein 2", "gene_name": "SLC44A2", "organism": "Human", "refseq_name": "choline transporter-like protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001138528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138528", "type": "external" } ], "gene_names_uniprotkb": "SLC44A2; CTL2; PSEC0210", "gene_names_refseq": "CTL2; HNA-3; PP1292; SLC44A2", "protein_names_uniprotkb": "Choline transporter-like protein 2; Solute carrier family 44 member 2", "protein_names_refseq": "choline transporter-like protein 2 isoform 2; choline transporter-like protein 2; human neutrophil antigen 3; solute carrier family 44 (choline transporter), member 2; testicular tissue protein Li 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:57153); (R-HSA-1483191); (R-HSA-6798163); (R-HSA-6798695); (R-HSA-9958517)", "pathway_count": 5, "publication_count": 105, "publication_id_list": "10.1101/2023.09.13.557529;10100195;10191259;10444331;10677542;10767172;10893425;10966938;11068039;11231903;11237011;11420179;11698453;12055623;12216837;12221122;12951056;14429690;14973250;15175005;15715662;15911624;16303743;16729965;17007874;17158099;17491011;17561512;17926100;18694939;19159218;19236841;19349973;19357133;19651622;19915674;20207735;20338778;20665236;21926997;22299025;22825317;23186163;23328280;23650620;23651124;23901139;24190977;24732803;24828044;25576301;26005868;26048993;26945070;27486859;28228285;28467828;28510447;28514659;28821867;28832583;28904123;29242379;29393594;29557506;29632711;29741879;29769354;29786170;30315122;30410026;30429286;3057511;30779550;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32502341;32938616;32983136;33124720;33556175;33672580;33789160;33936100;33968037;33981976;34185709;34357683;34561969;35051231;35251023;35289036;36695047;37074911;38665916;38916960;40596516;6163778;8692836;9593753", "class_list": "", "function": "CTL2 is more widely distributed than previously described, and its prominent expression on cells facing the scala media suggests a possible role in homeostasis., [RefSeq, PubMed]; Choline transporter-like proteins 1 and 2 are newly identified plasma membrane and mitochondrial ethanolamine transporters., [RefSeq, PubMed]; Choline transporter., [UniProtKB, UniProtKB, UniProtKB]; Choline/H+ antiporter, mainly in mitochondria (PubMed:10677542, PubMed:20665236, PubMed:23651124, PubMed:33789160). Also acts as a low-affinity ethanolamine/H+ antiporter, regulating the supply of extracellular ethanolamine (Etn) for the CDP-Etn pathway, redistribute intracellular Etn and balance the CDP-Cho and CDP-Etn arms of the Kennedy pathway (PubMed:33789160)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Does not exhibit choline transporter activity., [UniProtKB, PubMed, PubMed]; Functional Expression of Choline Transporters in Human Neural Stem Cells and Its Link to Cell Proliferation, Cell Viability, and Neurite Outgrowth. Publication Status: Online-Only, [RefSeq, PubMed]; Impaired adhesion of neutrophils expressing Slc44a2/HNA-3b to VWF protects against NETosis under venous shear rates., [RefSeq, PubMed]; Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype., [RefSeq, PubMed]; SLC44A2 regulates vascular smooth muscle cell phenotypic switching and aortic aneurysm. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 24, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RBB1;B3KNH3;B4DFJ0;F2Q9D7;Q658V1;Q658Z2;Q6PJV7;Q8N2F0;Q9NY68", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015297 antiporter activity;GO:0015220 choline transmembrane transporter activity;GO:0034228 ethanolamine transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0035579 specific granule membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0015721 bile acid and bile salt transport;GO:0006656 phosphatidylcholine biosynthetic process;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0015871 choline transport", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q8IWA5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26232-1", "uniprot_id": [ { "id": "CTNA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P26232", "type": "external" } ], "mass": 105313.0, "length": 953, "protein_name": "Catenin alpha-2", "gene_name": "CTNNA2", "organism": "Human", "refseq_name": "catenin alpha-2 isoform 2", "refseq_ac": [ { "id": "NP_001158355", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158355", "type": "external" } ], "gene_names_uniprotkb": "CTNNA2; CAPR", "gene_names_refseq": "CAP-R; CAPR; CDCBM9; CT114; CTNNA2; CTNR", "protein_names_uniprotkb": "Catenin alpha-2; Alpha N-catenin; Alpha-catenin-related protein", "protein_names_refseq": "alpha-N-catenin; alpha-catenin-related protein; cadherin-associated protein, related; cancer/testis antigen 114; catenin (cadherin-associated protein), alpha 2; catenin alpha-2 isoform 2", "tax_id": 9606, "disease": "primary sclerosing cholangitis (Disease Ontology:DOID:0060643); complex cortical dysplasia with other brain malformations 9 (Disease Ontology:DOID:0061138); primary biliary cholangitis (Disease Ontology:DOID:12236); autoimmune hepatitis (Disease Ontology:DOID:2048); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:1496); (R-HSA-525793)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10330143;10601328;10805738;11237011;11782431;12634428;16182284;18163523;19564926;20160094;21406692;23481700;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26811146;27846572;28904123;29557506;29786170;30013181;30524438;30526004;31154438;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32983136;33298915;33592498;33717175;33912179;33936100;34019948;34078123;34087483;34171305;34405274;35051231;36215666;36284347;37217939;8432524;9069290;9418854;9786951;9858528;9988769", "class_list": "", "function": "May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system (By similarity). Required for proper regulation of cortical neuronal migration and neurite growth (PubMed:30013181). It acts as a negative regulator of Arp2/3 complex activity and Arp2/3-mediated actin polymerization (PubMed:30013181). It thereby suppresses excessive actin branching which would impair neurite growth and stability (PubMed:30013181). Regulates morphological plasticity of synapses and cerebellar and hippocampal lamination during development. Functions in the control of startle modulation (By similarity)., [UniProtKB, UniProtKB, PubMed]; Novel-miR-4885 can bind to 3' untranslated region of CTNNA2 to reduce cell adhesion., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KXE5;B7Z2W7;B7Z352;B7Z898;Q4ZFW1;Q53R26;Q53R33;Q53T67;Q53T71;Q53TM8;Q7Z3L1;Q7Z3Y0", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0098831 presynaptic active zone cytoplasmic component;GO:0098888 extrinsic component of presynaptic membrane;GO:0098890 extrinsic component of postsynaptic membrane;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0098885 modification of postsynaptic actin cytoskeleton;GO:0007409 axonogenesis;GO:0016477 cell migration;GO:0060134 prepulse inhibition;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P26232-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43791-1", "uniprot_id": [ { "id": "SPOP_HUMAN", "url": "https://www.uniprot.org/uniprot/O43791", "type": "external" } ], "mass": 42132.0, "length": 374, "protein_name": "Speckle-type POZ protein", "gene_name": "SPOP", "organism": "Human", "refseq_name": "speckle-type POZ protein", "refseq_ac": [ { "id": "NP_001007227", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007227", "type": "external" } ], "gene_names_uniprotkb": "SPOP", "gene_names_refseq": "BTBD32; NEDMACE; NEDMIDF; NSDVS1; NSDVS2; SPOP; TEF2", "protein_names_uniprotkb": "Speckle-type POZ protein; HIB homolog 1; Roadkill homolog 1", "protein_names_refseq": "HIB homolog 1; roadkill homolog 1; speckle-type POZ protein", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684); hepatoblastoma (Disease Ontology:DOID:687); colorectal cancer (Disease Ontology:DOID:9256); neurodevelopmental disorder with microcephaly and dysmorphic facies (MONDO:MONDO:0032942); neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies (MONDO:MONDO:0032943)", "pathway": " (hsa:8405); (R-HSA-5632684); (R-HSA-9929491)", "pathway_count": 3, "publication_count": 139, "publication_id_list": "10433824;10564661;10966113;11027307;11237011;11960000;12050670;12068298;12123571;12138125;12426310;14528312;14611647;15115751;15198976;15240113;15300262;15897469;16061793;16136078;16155214;16421275;16459297;16459298;16524876;16611981;16651542;16740475;16980583;17115028;17442700;17641202;18455992;18497258;18827223;18832070;19305393;19368795;19371734;19533801;19549984;19592253;19622347;19666503;19684112;19818708;19852954;19878745;19955409;19996169;20014402;20016067;20154143;20360384;20460306;20487519;20512148;20643644;20818436;20844016;20889716;20956384;21695114;21801010;21878643;22007132;22085717;22391301;22632832;22982193;23332756;23719536;23725801;23955340;24072710;24302888;24582806;24845016;24854174;24925320;25418920;25576301;26154972;26758079;26992070;28063628;28218747;28514659;28832583;28855257;29331515;29393594;29493099;29557506;29786170;30315122;30410026;30429286;31154438;31844290;31848261;32109420;32157095;32161166;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33392160;33537174;33592498;33717175;33894201;33912179;33968037;34185709;34932366;35051231;35385574;35580925;36010968;36198437;36604567;36791496;37622993;37796126;38018242;38246227;38308184;38340178;38632244;39479456;40596516;9414087;9601642;9874371", "class_list": "", "function": "BCLAF1 binds SPOP to stabilize PD-L1 and promotes the development and immune escape of hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation., [RefSeq, PubMed]; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with CUL3, involved in ubiquitination of MACROH2A1 and BMI1; this does not lead to their proteasomal degradation. Inhibits transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOP has higher ubiquitin ligase activity than the complex that contains the heterodimer formed by SPOP and SPOPL. Involved in the regulation of bromodomain and extra-terminal motif (BET) proteins BRD2, BRD3, BRD4 stability (PubMed:32109420). Plays an essential role for proper translation, but not for their degradation, of critical DNA replication licensing factors CDT1 and CDC6, thereby participating in DNA synthesis and cell proliferation (PubMed:36791496). Regulates interferon regulatory factor 1/IRF1 proteasomal turnover by targeting S/T-rich degrons in IRF1 (PubMed:37622993). Facilitates the lysosome-dependent degradation of enterovirus EV71 protease 2A by inducing its 'Lys-48'-linked polyubiquitination, which ultimately restricts EV71 replication (PubMed:37796126). Acts as an antiviral factor also against hepatitis B virus/HBV by promoting ubiquitination and subsequent degradation of HNF1A (PubMed:38018242). In turn, inhibits HBV transcription and replication by preventing HNF1A stimulating activity of HBV preS1 promoter and enhancer II (PubMed:38018242). Involved in ubiquitination of BRDT and promotes its degradation, thereby regulates histone removal in early condensing spermatids prior to histone-to-protamine exchange (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Deficiency in SPOP-mediated ubiquitination and degradation of TIAM1 promotes gastric cancer progression., [RefSeq, PubMed]; ELK3 destabilization by speckle-type POZ protein suppresses prostate cancer progression and docetaxel resistance. Publication Status: Online-Only, [RefSeq, PubMed]; SPOP downregulation promotes bladder cancer progression based on cancer cell-macrophage crosstalk via STAT3/CCL2/IL-6 axis and is regulated by VEZF1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R6S3;D3DTW7;Q53HJ1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0140678 molecular function inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0030162 regulation of proteolysis;GO:0000209 protein polyubiquitination;GO:0030163 protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "O43791-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2I0-1", "uniprot_id": [ { "id": "CPSF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2I0", "type": "external" } ], "mass": 88487.0, "length": 782, "protein_name": "Cleavage and polyadenylation specificity factor subunit 2", "gene_name": "CPSF2", "organism": "Human", "refseq_name": "cleavage and polyadenylation specificity factor subunit 2 isoform 1", "refseq_ac": [ { "id": "NP_001309201", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309201", "type": "external" } ], "gene_names_uniprotkb": "CPSF2; CPSF100; KIAA1367", "gene_names_refseq": "CPSF100; CPSF2", "protein_names_uniprotkb": "Cleavage and polyadenylation specificity factor subunit 2; CPSF 100 kDa subunit; Cleavage and polyadenylation specificity factor 100 kDa subunit", "protein_names_refseq": "CPSF 100 kDa subunit; CPSF 100kDa subunit; cleavage and polyadenylation specific factor 2, 100kDa; cleavage and polyadenylation specificity factor 100 kDa subunit; cleavage and polyadenylation specificity factor subunit 2 isoform 1; cleavage and polyadenylation specificity factor subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:53981); (R-HSA-159231); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 138, "publication_id_list": "10669729;11014198;11060040;11237011;11747608;11979277;12871933;14519844;14749727;14762106;15037765;15084397;15120988;15302935;15565158;15998806;17081983;17128255;17190602;17317185;17984224;18288197;18411249;18452278;18669648;18688255;18957205;19217410;19413330;19494120;19651622;19690332;19836239;20068231;2017161;20573985;20630994;20695905;20844015;21102410;21295486;21911577;21947206;22207203;22813749;22928037;23186163;23222130;23299939;23301498;23481700;23582887;23804756;23874216;24076191;24149845;24244187;24275569;24366607;24714562;24715725;24958902;25301780;25301781;25418920;25576301;25645385;25662211;25836925;25892735;26092250;26148673;26154972;26375851;26728094;26929215;26992070;27108190;27846572;28096519;28904123;28911096;29186539;29274231;29437277;29493099;29557506;29902443;30139799;30257008;30379171;30429286;30484775;30599162;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32816001;32897882;32938616;32983136;33141586;33177556;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34932366;35008409;35051231;35177536;35215846;35580925;36010968;36215666;36240223;36241641;36284347;37217939;37938771;40596516;40914422;9659921", "class_list": "", "function": "CPSF2 may have a role in Papillary Thyroid Carcinoma, [RefSeq, PubMed]; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Involved in the histone 3' end pre-mRNA processing., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KME1;Q6NSJ1;Q9H3W7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0098794 postsynapse", "go_biological_process": "GO:0006398 mRNA 3'-end processing by stem-loop binding and cleavage;GO:0031124 mRNA 3'-end processing;GO:0071045 nuclear histone mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q9P2I0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBI2-1", "uniprot_id": [ { "id": "CYAC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBI2", "type": "external" } ], "mass": 27214.0, "length": 242, "protein_name": "Lysosomal membrane ascorbate-dependent ferrireductase CYB561A3", "gene_name": "CYB561A3", "organism": "Human", "refseq_name": "lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform 2", "refseq_ac": [ { "id": "NP_001154924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154924", "type": "external" } ], "gene_names_uniprotkb": "CYB561A3; CYBASC3; PSEC0259", "gene_names_refseq": "CYB561A3; CYBASC3; LCYTB", "protein_names_uniprotkb": "Lysosomal membrane ascorbate-dependent ferrireductase CYB561A3; 7.2.1.3; Cytochrome b ascorbate-dependent protein 3; Cytochrome b561 family member A3; LCytb; Lysosomal cytochrome b", "protein_names_refseq": "cytochrome b ascorbate-dependent protein 3; cytochrome b, ascorbate dependent 3; lysosomal cytochrome b561; lysosomal cytochrome b; lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 isoform 2; lysosomal membrane ascorbate-dependent ferrireductase CYB561A3", "tax_id": 9606, "disease": "", "pathway": " (hsa:220002)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;16303743;17897319;24715725;25548167;27543614;28467828;29242379;29314611;29557506;29632711;30573663;31611695;31844290;32157095;32350084;32983136;33141586;33592498;33912179;33936100;34087483;34232987;35154160;35561310", "class_list": "", "function": "CYB561A3 is the key lysosomal iron reductase required for Burkitt B-cell growth and survival., [RefSeq, PubMed]; Transmembrane reductase that uses ascorbate as an electron donor in the cytoplasm and transfers electrons across membranes to reduce iron cations Fe(3+) into Fe(2+) in the lumen of the late endosome and lysosome. Reduced iron can then be extruded from the late endosome and lysosome to the cytoplasm by divalent metal-specific transporters. It is therefore most probably involved in endosomal and lysosomal cellular iron homeostasis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KPU2;B4DLN9;J3KQH4;Q6PK96", "ec_number_list": [ { "id": "7.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.1.3", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0016491 oxidoreductase activity;GO:0140571 transmembrane ascorbate ferrireductase activity", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8NBI2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6Y1-1", "uniprot_id": [ { "id": "CMTA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6Y1", "type": "external" } ], "mass": 183672.0, "length": 1673, "protein_name": "Calmodulin-binding transcription activator 1", "gene_name": "CAMTA1", "organism": "Human", "refseq_name": "calmodulin-binding transcription activator 1 isoform b", "refseq_ac": [ { "id": "NP_001182492", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182492", "type": "external" } ], "gene_names_uniprotkb": "CAMTA1; KIAA0833; MSTP023", "gene_names_refseq": "CAMTA1; CANPMR; CECBA", "protein_names_uniprotkb": "Calmodulin-binding transcription activator 1", "protein_names_refseq": "calmodulin-binding transcription activator 1 isoform b", "tax_id": 9606, "disease": "nonprogressive cerebellar ataxia with mental retardation (Disease Ontology:DOID:0050998)", "pathway": " (hsa:23261)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;11925432;12964007;15138581;15709179;17081983;17222547;18083107;22693284;23481700;24190977;24715725;27862975;29242379;29557506;29786170;30429286;31844290;32157095;32387766;32488085;32938616;32983136;33298915;33592498;33677721;33798445;33913810;33968037;33981976;34087483;34171305;34509645;35051231;35580925;35949142;36010968;36215666;36241641;36284347;37938771;38044714", "class_list": "", "function": "CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review., [RefSeq, PubMed]; FLJ10737 and CAMTA1 genes on 1p36.31-p36.23 are candidate tumor suppressor genes of neuroblastoma, [RefSeq, PubMed]; Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. Erratum:[Neurogenetics. 2022 Jan;23(1):77. doi: 10.1007/s10048-021-00641-w. PMID: 34859314], [RefSeq, PubMed]; No evidence for somatic mutations in FLJ10737 in neuroblastoma, [RefSeq, PubMed]; TAZ-CAMTA1 and YAP-TFE3 alter the TAZ/YAP transcriptome by recruiting the ATAC histone acetyltransferase complex. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]., [RefSeq]; The role of Calmodulin Binding Transcription Activator 1 (CAMTA1) gene and its putative genetic partners in the human nervous system. Review article, [RefSeq, PubMed]; Transcriptional activator., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A7MBM4;G3V3Z7;Q5VUE1;Q6V701;Q8WYI3;Q96S92", "ec_number_list": [], "go_molecular_function": "GO:0003690 double-stranded DNA binding;GO:0043565 sequence-specific DNA binding;GO:0003712 transcription coregulator activity;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0070886 positive regulation of calcineurin-NFAT signaling cascade", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9Y6Y1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02686-1", "uniprot_id": [ { "id": "MBP_HUMAN", "url": "https://www.uniprot.org/uniprot/P02686", "type": "external" } ], "mass": 33117.0, "length": 304, "protein_name": "Myelin basic protein", "gene_name": "MBP", "organism": "Human", "refseq_name": "myelin basic protein isoform 1", "refseq_ac": [ { "id": "NP_001020252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020252", "type": "external" } ], "gene_names_uniprotkb": "MBP", "gene_names_refseq": "MBP", "protein_names_uniprotkb": "Myelin basic protein; MBP; Myelin A1 protein; Myelin membrane encephalitogenic protein", "protein_names_refseq": "Golli-MBP; myelin A1 protein; myelin basic protein isoform 1; myelin membrane encephalitogenic protein", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); periventricular leukomalacia (Disease Ontology:DOID:13088); hypothyroidism (Disease Ontology:DOID:1459); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); demyelinating disease (Disease Ontology:DOID:3213); temporal lobe epilepsy (Disease Ontology:DOID:3328); schizophrenia (Disease Ontology:DOID:5419); encephalitis (Disease Ontology:DOID:9588); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:4155); (R-HSA-9619665)", "pathway_count": 2, "publication_count": 270, "publication_id_list": "10203854;10220111;10337923;10400691;10458771;10617620;10660600;10686174;10700472;10727776;10757804;10760949;10856243;10880969;11003134;11080454;11115854;11133365;11137588;11157804;11163233;11237011;11356866;11359828;11394999;11430795;11430802;11509612;11734543;11782409;11784132;12056842;12145339;12198163;12244309;12557285;12604313;12760422;12782656;12799134;1281825;12892735;1370666;1372258;1372558;14507981;14512514;14517248;14522948;14664827;14991617;15067096;15100291;15150276;15189448;15214032;15265898;15356632;15372502;15385250;15456243;15610069;15665083;15695336;15699121;15743189;15821740;15836632;15907797;16079912;16136673;16311519;16319321;16337592;16373334;16401070;16704422;1689270;16923174;1694881;1695239;1699809;1704008;17081983;1709690;1710565;17158878;17325040;17699610;17803968;17959798;18506883;18634568;18713991;18753013;18803322;19008075;19053745;19143832;19156870;19300513;19303388;19321787;1939237;19531498;19630914;19745155;1975954;19922439;20058876;20149798;20213556;20492929;20625412;20832498;21044070;21199956;21297580;21326363;21411665;21423190;21423191;21613327;21653862;22053691;22180461;22201827;22333914;22492709;22609403;22764250;22814607;22888134;22973070;23186163;23695165;23747866;23828821;23874858;24123687;2413024;24136005;24191038;2419434;24227709;2425357;2426402;2427738;2437472;2442403;2447826;2448611;2449425;2456306;24642384;24646194;2465311;2466844;2466871;24675079;24683185;2472816;2474079;2479765;24855945;25469497;25502872;25645385;2578184;25974668;25992863;26154972;26423937;26441514;26453465;26526848;26992070;27220739;27288457;27600516;27846572;27859941;27920218;28063628;28657654;28832583;28852375;29242379;29393594;29485866;29493099;29508533;29557506;29632046;29748249;29857928;31154438;31844290;31848261;32157095;32387766;32488085;32938616;32983136;33090600;33091337;33374217;33483338;33936100;33968037;34078123;34439806;34561969;34889995;35580925;36481359;37506490;37938771;4099924;4108501;5128665;6183342;6201481;7504278;7508836;7517973;7523133;7526383;7532684;7536622;7541053;7544282;7568039;7574672;7684682;7685161;7689597;7689598;7925941;7935840;8138712;8349731;8544862;8609422;8619637;8627307;8647822;8662541;8842374;8986809;9020143;9094982;9125392;9218510;9257827;9276728;9278344;9418958;9430721;9482253;9510211;9558061;9688320;9688330;9705348;9736024;9748295;9802984;9858769;9886404", "class_list": "", "function": "Citrullination of myelin basic protein induces a Th17-cell response in healthy individuals and enhances the presentation of MBP85-99 in patients with multiple sclerosis., [RefSeq, PubMed]; Investigation of the relationship between MBP gene polymorphisms and delayed encephalopathy after acute carbon monoxide poisoning., [RefSeq, PubMed]; Multiple Sclerosis: Enzymatic Cross Site-Specific Hydrolysis of H1 Histone by IgGs against H1, H2A, H2B, H3, H4 Histones, and Myelin Basic Protein. Publication Status: Online-Only, [RefSeq, PubMed]; Multiple sclerosis and myelin basic protein: insights into protein disorder and disease. Review article, [RefSeq, PubMed]; The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non-classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T-cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation., [UniProtKB, PubMed]; The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called 'Golli-MBP') that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 40, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4FU54;A6NI84;A8MY86;A8MYL4;B3KY66;B7ZKS2;B7ZKS4;Q15337;Q15338;Q15339;Q15340;Q59GX3;Q65ZS4;Q6AI64;Q6FH37;Q6FI04;Q6PK23", "ec_number_list": [], "go_molecular_function": "GO:0019911 structural constituent of myelin sheath;GO:0002020 protease binding;GO:0005516 calmodulin binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0033269 internode region of axon;GO:0005634 nucleus;GO:0005829 cytosol;GO:0009986 cell surface;GO:0043025 neuronal cell body", "go_biological_process": "GO:0006955 immune response;GO:0007268 chemical synaptic transmission;GO:0042552 myelination;GO:0007417 central nervous system development;GO:0008366 axon ensheathment", "synthesized_glycan_count": 0, "hit_score": 27.3, "record_id": "P02686-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100100000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11532-1", "uniprot_id": [ { "id": "DMD_HUMAN", "url": "https://www.uniprot.org/uniprot/P11532", "type": "external" } ], "mass": 426778.0, "length": 3685, "protein_name": "Dystrophin", "gene_name": "DMD", "organism": "Human", "refseq_name": "dystrophin isoform Dp427p1", "refseq_ac": [ { "id": "NP_004000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004000", "type": "external" } ], "gene_names_uniprotkb": "DMD", "gene_names_refseq": "BMD; CMD3B; DMD; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85", "protein_names_uniprotkb": "Dystrophin", "protein_names_refseq": "dystrophin isoform Dp427p1; mutant dystrophin", "tax_id": 9606, "disease": "small intestine carcinoid neuroendocrine tumor (Disease Ontology:DOID:0050925); junctional epidermolysis bullosa with pyloric atresia (Disease Ontology:DOID:0060733); junctional epidermolysis bullosa non-Herlitz type (Disease Ontology:DOID:0060738); obsolete dilated cardiomyopathy 3B (Disease Ontology:DOID:0081164); dilated cardiomyopathy 3B (Disease Ontology:DOID:0110461); intellectual disability (Disease Ontology:DOID:1059); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); dilated cardiomyopathy (Disease Ontology:DOID:12930); cognitive disorder (Disease Ontology:DOID:1561); status epilepticus (Disease Ontology:DOID:1824); junctional epidermolysis bullosa (Disease Ontology:DOID:3209); brain edema (Disease Ontology:DOID:4724); congestive heart failure (Disease Ontology:DOID:6000); muscular atrophy (Disease Ontology:DOID:767); retinal degeneration (Disease Ontology:DOID:8466); Becker muscular dystrophy (Disease Ontology:DOID:9883); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:1756); (R-HSA-3000171); (R-HSA-390522); (R-HSA-9913351)", "pathway_count": 4, "publication_count": 115, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10189375;10441321;10545507;10573008;10734266;10747208;10747910;10801490;10893187;10932245;10942431;11237011;11352924;11430802;11495720;11847221;12189167;12354438;12359139;12632325;12907150;1319059;14636778;15175026;16000376;16524571;16710609;16806867;16959974;17081983;1719482;17905726;18669648;18764929;18767875;19007248;19346169;19413330;19946898;20044576;20068231;21396098;22159078;22223806;23186163;23481700;24010700;2407739;24275569;24302611;25340340;25548167;25645385;2569720;26375851;2648158;2668885;28063628;28218747;28832583;29093164;29242379;29393594;29485866;29632046;29632711;29786170;30192525;30315122;30379171;30524438;30779550;3205741;32410525;3282674;3428261;3607877;37217939;37340703;38653179;39251998;7527495;7547961;7592992;7844150;7849724;7925941;7951253;7981590;7981690;8043271;8045556;8268918;8281150;8349731;8401582;8541829;8576247;8607994;8627307;8798547;8817332;8845841;9170407;9214383;9370062;9405466;9412493;9652404;9659899;9659900;9851445;9864373", "class_list": "", "function": "Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases. Publication Status: Online-Only, [RefSeq, PubMed]; Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene. Erratum:[Neuromuscul Disord. 2024 Jun;39:54. doi: 10.1016/j.nmd.2024.05.010. PMID: 38801812], [RefSeq, PubMed]; This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 38, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 147, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 17, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B6G3;A1L0U9;E7EQR9;E7EQS5;E7ESB2;E9PDN1;E9PDN5;F5GZY3;F8VX32;Q02295;Q14169;Q14170;Q5JYU0;Q6NSJ9;Q7KZ48;Q8N754;Q9UCW3;Q9UCW4", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0008270 zinc ion binding;GO:0017022 myosin binding;GO:0002162 dystroglycan binding", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0045666 positive regulation of neuron differentiation;GO:0046716 muscle cell cellular homeostasis;GO:0007517 muscle organ development;GO:0060048 cardiac muscle contraction", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P11532-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG13-1", "uniprot_id": [ { "id": "CTF8_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG13", "type": "external" } ], "mass": 13314.0, "length": 121, "protein_name": "Chromosome transmission fidelity protein 8 homolog", "gene_name": "CHTF8", "organism": "Human", "refseq_name": "chromosome transmission fidelity protein 8 homolog", "refseq_ac": [ { "id": "NP_001034779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779", "type": "external" } ], "gene_names_uniprotkb": "CHTF8; CTF8", "gene_names_refseq": "CHTF8; CTF8", "protein_names_uniprotkb": "Chromosome transmission fidelity protein 8 homolog; hCTF8", "protein_names_refseq": "CTF8, chromosome transmission fidelity factor 8 homolog; chromosome transmission fidelity protein 8 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:54921); (R-HSA-174411)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10329413;11237011;12766176;12930902;15066120;17545166;1974050;22544926;23481700;24038470;24115439;24714562;24715725;25645385;26154972;26375851;26728094;26992070;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30524438;30779550;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33936100;33968037;33981976;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36284347;40596516;8954124;9822671", "class_list": "", "function": "Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DSCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single-stranded and primed DNAs and has weak ATPase activity that is stimulated the presence of primed DNA, replication protein A (RPA) and proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP-dependent loading of PCNA onto primed and gapped DNA. It also interacts with and stimulates POLH, which is suggestive of a protein network that coordinates DNA repair, recombination and chromosome cohesion reactions with replication fork progression., [UniProtKB, PubMed, PubMed]; HCTF18, hCTF8, and hDCC1 interact with each other as well as with the p38 subunit of RFC, [RefSeq, PubMed]; The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA., [RefSeq, PubMed]; This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Oct 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MYX8;Q71E72;Q8NDH8;Q8WV66;Q9NX73", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031390 Ctf18 RFC-like complex", "go_biological_process": "GO:0006260 DNA replication;GO:1900264 positive regulation of DNA-directed DNA polymerase activity;GO:0007064 mitotic sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P0CG13-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13498-1", "uniprot_id": [ { "id": "CY24A_HUMAN", "url": "https://www.uniprot.org/uniprot/P13498", "type": "external" } ], "mass": 21013.0, "length": 195, "protein_name": "Cytochrome b-245 light chain", "gene_name": "CYBA", "organism": "Human", "refseq_name": "cytochrome b-245 light chain", "refseq_ac": [ { "id": "NP_000092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000092", "type": "external" } ], "gene_names_uniprotkb": "CYBA", "gene_names_refseq": "CGD4; CYBA; p22-PHOX", "protein_names_uniprotkb": "Cytochrome b-245 light chain; Cytochrome b(558) alpha chain; Cytochrome b558 subunit alpha; Neutrophil cytochrome b 22 kDa polypeptide; Superoxide-generating NADPH oxidase light chain subunit; p22 phagocyte B-cytochrome; p22-phox; p22phox", "protein_names_refseq": "cytochrome b light chain; cytochrome b(558) alpha chain; cytochrome b(558) alpha-subunit; cytochrome b, alpha polypeptide; cytochrome b-245 light chain; cytochrome b-245, alpha polypeptide; cytochrome b558 subunit alpha; flavocytochrome b-558 alpha polypeptide; neutrophil cytochrome b 22 kDa polypeptide; p22 phagocyte B-cytochrome; p22phox; superoxide-generating NADPH oxidase light chain subunit", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); autosomal recessive chronic granulomatous disease 4 (Disease Ontology:DOID:0070193); hypertension (Disease Ontology:DOID:10763); pulmonary sarcoidosis (Disease Ontology:DOID:13406); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); phagocyte bactericidal dysfunction (Disease Ontology:DOID:3262); chronic granulomatous disease (Disease Ontology:DOID:3265); coronary artery disease (Disease Ontology:DOID:3393); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); diabetic retinopathy (Disease Ontology:DOID:8947); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:1535); (R-HSA-1222556); (R-HSA-1236973); (R-HSA-3299685); (R-HSA-4420097); (R-HSA-5668599); (R-HSA-6798695); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423); (R-HSA-9673324)", "pathway_count": 11, "publication_count": 527, "publication_id_list": 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"class_list": "", "function": "CYBA allelic variants are associated with severity and recovery in Guillain-Barre syndrome., [RefSeq, PubMed]; CYBA as a Potential Biomarker for Renal Cell Carcinoma: Evidence from an Integrated Genetic Analysis., [RefSeq, PubMed]; Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]., [RefSeq]; Effect of the CYBA C242T Polymorphism on Preeclampsia Pathogenesis in the Chinese Population., [RefSeq, PubMed]; ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes., [RefSeq, PubMed]; Structure of human phagocyte NADPH oxidase in the activated state., [RefSeq, PubMed]; Subunit of NADPH oxidase complexes that is required for the NADPH oxidase activity that generates, in various cell types, superoxide from molecular oxygen utilizing NADPH as an electron donor (PubMed:15824103, PubMed:17140397, PubMed:38355798). Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:38355798). In the activated complex, electrons are first transferred from NADPH to flavin adenine dinucleotide (FAD) and subsequently transferred via two heme molecules to molecular oxygen, producing superoxide through an outer-sphere reaction (PubMed:38355798). Activation of the NADPH oxidase complex is initiated by the assembly of cytosolic subunits of the NADPH oxidase complex with the core NADPH oxidase complex to form a complex at the plasma membrane or phagosomal membrane (PubMed:38355798). This activation process is initiated by phosphorylation dependent binding of the cytosolic NCF1/p47-phox subunit to the C-terminus of CYBA/p22-phox (PubMed:19948736). Aassociates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide (PubMed:15824103, PubMed:17140397)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14090;Q9BR72", "ec_number_list": [], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0017124 SH3 domain binding;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity;GO:0020037 heme binding", "go_cellular_component": "GO:0043020 NADPH oxidase complex;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:1904385 cellular response to angiotensin;GO:0006954 inflammatory response;GO:0030307 positive regulation of cell growth;GO:0032930 positive regulation of superoxide anion generation;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 52.8, "record_id": "P13498-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRY6-1", "uniprot_id": [ { "id": "PLS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRY6", "type": "external" } ], "mass": 31648.0, "length": 295, "protein_name": "Phospholipid scramblase 3", "gene_name": "PLSCR3", "organism": "Human", "refseq_name": "phospholipid scramblase 3 isoform 1", "refseq_ac": [ { "id": "NP_001188505", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188505", "type": "external" } ], "gene_names_uniprotkb": "PLSCR3", "gene_names_refseq": "PLSCR3", "protein_names_uniprotkb": "Phospholipid scramblase 3; Ca(2+)-dependent phospholipid scramblase 3; PL scramblase 3", "protein_names_refseq": "PL scramblase 3; ca(2+)-dependent phospholipid scramblase 3; phospholipid scramblase 3 isoform 1", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:57048)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10930526;11237011;12649167;14573790;16267027;16939411;17226776;18256029;18358005;18491232;22645359;25502872;26024233;28467828;28832583;29242379;29314611;29337693;29493099;29557506;29632046;29786170;30573663;31020640;31769662;31844290;32161166;32350084;32938616;32983136;33592498;33936100;33968037;34932366;35051231;35154160;35580925;36010968", "class_list": "", "function": "Catalyzes calcium-induced ATP-independent rapid bidirectional and non-specific movement of the phospholipids (lipid scrambling or lipid flip-flop) between the inner and outer membrane of the mitochondria (PubMed:14573790, PubMed:17226776, PubMed:18358005, PubMed:29337693, PubMed:31769662). Plays an important role in mitochondrial respiratory function, morphology, and apoptotic response (PubMed:12649167, PubMed:14573790, PubMed:17226776, PubMed:18358005). Mediates the translocation of cardiolipin from the mitochondrial inner membrane to outer membrane enhancing t-Bid induced cytochrome c release and apoptosis (PubMed:14573790, PubMed:17226776, PubMed:18358005). Enhances TNFSF10-induced apoptosis by regulating the distribution of cardiolipin in the mitochondrial membrane resulting in increased release of apoptogenic factors and consequent amplification of the activity of caspases (PubMed:18491232). Regulates cardiolipin de novo biosynthesis and its resynthesis (PubMed:16939411)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PLS3 as a critical regulator of mitochondrial structure and respiration, and CL transport in apoptosis., [RefSeq, PubMed]; PLS3 is a downstream effector of PKC-delta in the mitochondria., [RefSeq, PubMed]; The results revealed that Ca2+ and Mg2+ bind to Human phospholipid scramblase 3 (hPLSCR3) and trigger conformational changes mediated by aggregation., [RefSeq, PubMed]; These findings indicate that phosphorylation of PLS3 by PKC-delta induces PLS3 activation to facilitate mitochondrial targeting of tBid and apoptosis., [RefSeq, PubMed]; This enzyme is a novel regulator of cardiolipin de novo biosynthesis and its resynthesis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K252;Q567U0;Q8NBW6;Q96F13", "ec_number_list": [ { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0032791 lead ion binding;GO:0000287 magnesium ion binding;GO:0017124 SH3 domain binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0090199 regulation of release of cytochrome c from mitochondria;GO:0006915 apoptotic process;GO:0071222 cellular response to lipopolysaccharide;GO:0042981 regulation of apoptotic process;GO:0017121 plasma membrane phospholipid scrambling", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9NRY6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04070-1", "uniprot_id": [ { "id": "PROC_HUMAN", "url": "https://www.uniprot.org/uniprot/P04070", "type": "external" } ], "mass": 52071.0, "length": 461, "protein_name": "Vitamin K-dependent protein C", "gene_name": "PROC", "organism": "Human", "refseq_name": "vitamin K-dependent protein C isoform 10 preproprotein", "refseq_ac": [ { "id": "NP_000303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000303", "type": "external" } ], "gene_names_uniprotkb": "PROC", "gene_names_refseq": "APC; PC; PROC1; PROC; THPH3; THPH4", "protein_names_uniprotkb": "Vitamin K-dependent protein C; 3.4.21.69; Anticoagulant protein C; Autoprothrombin IIA; Blood coagulation factor XIV", "protein_names_refseq": "Protein C-Nagoya; activated protein C; anticoagulant protein C; autoprothrombin IIA; blood coagulation factor XIV; prepro-protein C; type I protein C; vitamin K-dependent protein C isoform 10 preproprotein; vitamin K-dependent protein C", "tax_id": 9606, "disease": "thrombosis (Disease Ontology:DOID:0060903); thrombophilia due to activated protein C resistance (Disease Ontology:DOID:0111902); autosomal recessive thrombophilia due to protein C deficiency (Disease Ontology:DOID:0111904); autosomal dominant thrombophilia due to protein C deficiency (Disease Ontology:DOID:0111909); osteonecrosis (Disease Ontology:DOID:10159); pre-eclampsia (Disease Ontology:DOID:10591); thrombotic thrombocytopenic purpura (Disease Ontology:DOID:10772); disseminated intravascular coagulation (Disease Ontology:DOID:11247); toxic shock syndrome (Disease Ontology:DOID:14115); central retinal vein occlusion (Disease Ontology:DOID:2450); thrombophilia (Disease Ontology:DOID:2452); asthma (Disease Ontology:DOID:2841); antiphospholipid syndrome (Disease Ontology:DOID:2988); acute kidney failure (Disease Ontology:DOID:3021); protein C deficiency (Disease Ontology:DOID:3756); myocardial infarction (Disease Ontology:DOID:5844); pulmonary embolism (Disease Ontology:DOID:9477); placental abruption (Disease Ontology:DOID:9667)", "pathway": " (hsa:5624); (R-HSA-159740); (R-HSA-159763); (R-HSA-159782); (R-HSA-202733); (R-HSA-381426); (R-HSA-8957275); (R-HSA-9769733); (R-HSA-9769739); (R-HSA-9769743); (R-HSA-9930449); (R-HSA-9930479)", "pathway_count": 12, "publication_count": 267, "publication_id_list": "10026136;10026158;10068650;10077652;10218588;10512690;10606205;10614670;10681634;10764623;10810289;10898936;10912521;10917896;10951195;10990447;11035113;11158056;11207550;11237011;11238108;11250653;11252894;11256994;11264294;11316783;11342438;11513608;11522292;11564780;11606061;11739083;11751371;11779189;11788658;11812992;11833835;12052963;12070135;12208882;12241545;12379487;12466191;12469115;12782713;12810533;12904166;12907439;1301959;1347706;1370451;1383255;14529530;14615387;14695241;14982929;15000751;1511988;1511989;15126567;15308688;1544894;15469690;15485880;15525596;15528364;15642270;15681301;15721307;1591491;1593215;1611081;16161994;1618828;16258728;16297198;16335952;16585556;16619025;16691243;16737840;16783819;1694179;17047378;17064312;17099249;17116209;17167768;17172599;17249697;17312271;17322099;17379836;17442946;17452516;17505016;17506785;17525755;17563375;17580308;17598008;17600130;17615384;17625065;17635713;17985932;1868249;1902833;19279206;19297154;1930190;19343721;20004170;2019570;20427285;2104832;2110473;21107324;21193412;21659548;21932952;22144186;22171320;22531345;22545135;22618708;2271516;22786881;22961984;23021219;23683607;2384594;23945545;24043627;2437584;24554904;24764293;2476804;2479552;2502206;2505252;25326145;2538457;25618265;25651845;25713144;25748729;25753038;25855704;2602169;26091039;26473492;2664828;27363989;2738071;2742826;2866798;29223926;29391424;29419409;29671580;29741879;2991859;2991887;3017409;30459171;3082357;30918026;31262782;3129422;3134349;31439947;33214551;34502392;34725484;3511471;3524673;36951953;37074911;3733688;3744129;37726033;38135361;3863104;38824799;39880037;39894887;468991;6323392;6334516;6438527;6589623;6967872;7356959;7499257;7509040;7519608;7521878;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7605880;7683646;7689487;7727775;7756647;7792728;7841323;7841324;7865674;7878626;7919373;7974343;8003977;8130392;8144529;8148489;8163559;8164741;8166770;8292730;8314844;8324221;8336730;8338946;8398832;8446940;8473289;8477066;8499565;8499568;8530480;8560401;8626656;8639781;8781553;8817670;8829639;8894645;8964575;9003757;9052782;9169774;9218519;9242610;9295288;9382878;9454742;9459334;9469622;9497324;9607108;9693095;9709957;9733769;9763524;9774404;9786878;9798967;9834200;9888880;9922210", "class_list": "", "function": "Activated Protein C Prevents Neuronal Apoptosis via Protease Activated Receptors 1 and 3., [RefSeq, PubMed]; Mutation Ter462GlnextTer17 introduces a tail to C-terminus of protein C and causes venous thrombosis., [RefSeq, PubMed]; Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids. Exerts a protective effect on the endothelial cell barrier function., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 12, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 56, "disease_count": 18, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DPQ7;Q15189;Q15190;Q16001;Q53S74;Q9UC55", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "2.3.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.13", "type": "external" }, { "id": "3.4.21.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.5", "type": "external" }, { "id": "3.4.21.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.27", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "4.1.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.90", "type": "external" }, { "id": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005509 calcium ion binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006508 proteolysis;GO:0043066 negative regulation of apoptotic process;GO:0007596 blood coagulation;GO:0050728 negative regulation of inflammatory response;GO:1903142 positive regulation of establishment of endothelial barrier", "synthesized_glycan_count": 0, "hit_score": 33.2, "record_id": "P04070-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14817-1", "uniprot_id": [ { "id": "TSN4_HUMAN", "url": "https://www.uniprot.org/uniprot/O14817", "type": "external" } ], "mass": 26118.0, "length": 238, "protein_name": "Tetraspanin-4", "gene_name": "TSPAN4", "organism": "Human", "refseq_name": "tetraspanin-4 isoform a", "refseq_ac": [ { "id": "NP_001020405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020405", "type": "external" } ], "gene_names_uniprotkb": "TSPAN4; NAG2; TM4SF7", "gene_names_refseq": "NAG-2; NAG2; TETRASPAN; TM4SF7; TSPAN-4; TSPAN4", "protein_names_uniprotkb": "Tetraspanin-4; NAG-2; Novel antigen 2; Transmembrane 4 superfamily member 7; Tspan-4", "protein_names_refseq": "novel antigen 2; tetraspan TM4SF; tetraspanin-4 isoform a; transmembrane 4 superfamily member 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:7106)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;16959974;19159218;22869377;23783831;25342562;25576301;25645385;25880248;26375851;27600516;28832583;29242379;29493099;29557506;30779550;31154438;31217245;31222486;31371828;31844290;31848261;32157095;32350084;32502341;32938616;32983136;33123756;33981976;34355505;34439793;35051231;35318648;35580925;36215666;36241641;36252000;36284347;36513632;36823145;9360996;9714763", "class_list": "", "function": "Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children., [RefSeq, PubMed]; Identification of TSPAN4 as Novel Histamine H4 Receptor Interactor. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Plays an essential role in migrasome formation and migration on retracting fibers at the rear end of migrating cells (PubMed:31371828). Migrasomes are cellular organelles that form as large vesicle-like structures on retraction fibers of migrating cells (PubMed:31371828). Mechanistically, acts as a membrane curvature sensor and participates in stabilizing the migrasome structure in a late stage of biogenesis (PubMed:36252000, PubMed:36823145). May also play a regulatory role for the histamine H4 receptor/HRH4 without affecting histamine binding to HRH4 or signaling (PubMed:34439793)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; TSPAN4 and migrasomes in atherosclerosis regression correlated to myocardial infarction and pan-cancer progression., [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6IAP6", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0003823 antigen binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0031982 vesicle;GO:0016020 membrane", "go_biological_process": "GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O14817-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6DKI2-1", "uniprot_id": [ { "id": "LEG9C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6DKI2", "type": "external" } ], "mass": 39607.0, "length": 356, "protein_name": "Galectin-9C", "gene_name": "LGALS9C", "organism": "Human", "refseq_name": "galectin-9C isoform 1", "refseq_ac": [ { "id": "NP_001035167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035167", "type": "external" } ], "gene_names_uniprotkb": "LGALS9C", "gene_names_refseq": "LGALS9C; gal-9C", "protein_names_uniprotkb": "Galectin-9C; Gal-9C; Galectin-9-like protein B", "protein_names_refseq": "galectin 9 like; galectin-9C isoform 1; lectin, galactoside-binding, soluble, 9C", "tax_id": 9606, "disease": "", "pathway": " (hsa:654346)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;11971863;12684513;22544926;25279150;26992070;28467828;28904123;30429286;31092671;33298915;33936100;36284347", "class_list": "glycogene", "function": "Binds galactosides., [UniProtKB]; Functional analysis of the carbohydrate recognition domains and a linker peptide as to eosinophil chemoattractant activity, [RefSeq, PubMed]; Specific recognition of Leishmania major poly-beta-galactosyl epitopes by this compound implicates it in interactions between L. major and host cells., [RefSeq, PubMed]; This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more telomeric gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 457, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0AZM7", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0016936 galactoside binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0032689 negative regulation of type II interferon production;GO:2000562 negative regulation of CD4-positive, alpha-beta T cell proliferation", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6DKI2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01241-1", "uniprot_id": [ { "id": "SOMA_HUMAN", "url": "https://www.uniprot.org/uniprot/P01241", "type": "external" } ], "mass": 24847.0, "length": 217, "protein_name": "Somatotropin", "gene_name": "CSH1; CSH2; GH1", "organism": "Human", "refseq_name": "somatotropin isoform 1 precursor", "refseq_ac": [ { "id": "NP_000506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000506", "type": "external" } ], "gene_names_uniprotkb": "CSH1; CSH2; GH1; CSH2", "gene_names_refseq": "GH-N; GH1; GHB5; GHN; GH; IGHD1A; IGHD1B; IGHD2; hGH-N; hGH", "protein_names_uniprotkb": "Somatotropin; GH-N; GH; Growth hormone 1; Growth hormone; Pituitary growth hormone", "protein_names_refseq": "growth hormone B5; pituitary growth hormone; somatotropin isoform 1 precursor; somatotropin", "tax_id": 9606, "disease": "autoimmune polyendocrine syndrome type 1 (Disease Ontology:DOID:0050167); congenital hypothyroidism (Disease Ontology:DOID:0050328); isolated growth hormone deficiency (Disease Ontology:DOID:0060870); isolated growth hormone deficiency type II (Disease Ontology:DOID:0060872); isolated growth hormone deficiency type IA (Disease Ontology:DOID:0060873); isolated growth hormone deficiency type IB (Disease Ontology:DOID:0060874); osteoporosis (Disease Ontology:DOID:11476); gestational diabetes (Disease Ontology:DOID:11714); beta thalassemia (Disease Ontology:DOID:12241); Diamond-Blackfan anemia (Disease Ontology:DOID:1339); anemia (Disease Ontology:DOID:2355); severe acute respiratory syndrome (Disease Ontology:DOID:2945); progeria (Disease Ontology:DOID:3911); myocardial infarction (Disease Ontology:DOID:5844); osteoarthritis (Disease Ontology:DOID:8398); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetes insipidus (Disease Ontology:DOID:9409); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); short stature due to growth hormone qualitative anomaly (MONDO:MONDO:0009879)", "pathway": " (hsa:2688); (R-HSA-1170546); (R-HSA-422085); (R-HSA-982772)", "pathway_count": 4, "publication_count": 77, "publication_id_list": "10391209;10393484;10604470;10931946;11089560;11237011;11502836;11600536;11756331;12050285;12354137;12414809;12553549;12655557;12907755;14599721;14997482;15001589;15082796;15126574;15142980;15256494;1549776;15604212;15713716;15767667;16546209;16807684;16840534;17289852;17519310;17595255;18396350;18443287;18473352;18488018;19280057;19327128;1948064;19628676;19927328;20053995;22649370;2744760;2825030;3349036;3447173;35051231;377496;37895086;37936007;37962050;38446190;386281;3912261;39435354;4675454;5144027;5279046;5279528;5810834;6269091;7028740;7169009;7356479;7462247;7691587;7984244;8188682;8343952;8364549;8552145;8943276;9030599;9058373;9152628;9276733", "class_list": "", "function": "Brain white matter alterations in young adult male patients with childhood-onset growth hormone deficiency: a diffusion tensor imaging study., [RefSeq, PubMed]; GH and IGF-1 in skin interstitial fluid and blood are associated with heat loss responses in exercising young adults., [RefSeq, PubMed]; Growth Hormone, Atherosclerosis and Peripheral Arterial Disease: Exploring the Spectrum from Acromegaly to Growth Hormone Deficiency. Review article, [RefSeq, PubMed]; Involvement of Sirtuin 1 in the Growth Hormone/Insulin-like Growth Factor 1 Signal Transduction and Its Impact on Growth Processes in Children. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues., [UniProtKB, UniProtKB, UniProtKB]; The clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 22, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEF6;Q14405;Q16631;Q5EB53;Q9HBZ1;Q9UMJ7;Q9UNL5", "ec_number_list": [], "go_molecular_function": "GO:0005148 prolactin receptor binding;GO:0046872 metal ion binding;GO:0005125 cytokine activity;GO:0005179 hormone activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031904 endosome lumen;GO:0070195 growth hormone receptor complex", "go_biological_process": "GO:0043410 positive regulation of MAPK cascade;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0031667 response to nutrient levels;GO:0032355 response to estradiol;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P01241-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H898-1", "uniprot_id": [ { "id": "ZMAT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H898", "type": "external" } ], "mass": 25833.0, "length": 229, "protein_name": "Zinc finger matrin-type protein 4", "gene_name": "ZMAT4", "organism": "Human", "refseq_name": "zinc finger matrin-type protein 4 isoform b", "refseq_ac": [ { "id": "NP_001129203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129203", "type": "external" } ], "gene_names_uniprotkb": "ZMAT4", "gene_names_refseq": "ZMAT4", "protein_names_uniprotkb": "Zinc finger matrin-type protein 4", "protein_names_refseq": "zinc finger matrin-type protein 4 isoform b; zinc finger matrin-type protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:79698)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;21269563;32166996", "class_list": "", "function": "Association of VIPR2 and ZMAT4 with high myopia., [RefSeq, PubMed]; Examines the expression of ZMAT4 mRNA in the samples with 1 or 2 copies of DNA, and observed a weak yet positive correlation between the relative expression level and gene dosage., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WUT8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9H898-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7T0-1", "uniprot_id": [ { "id": "CTSRB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7T0", "type": "external" } ], "mass": 126924.0, "length": 1116, "protein_name": "Cation channel sperm-associated auxiliary subunit beta", "gene_name": "CATSPERB", "organism": "Human", "refseq_name": "cation channel sperm-associated auxiliary subunit beta precursor", "refseq_ac": [ { "id": "NP_079040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079040", "type": "external" } ], "gene_names_uniprotkb": "CATSPERB; C14orf161", "gene_names_refseq": "C14orf161; CATSPERB; CatSper(beta)", "protein_names_uniprotkb": "Cation channel sperm-associated auxiliary subunit beta; CatSper-beta", "protein_names_refseq": "catSper-beta; cation channel sperm associated auxiliary subunit beta; cation channel sperm-associated auxiliary subunit beta precursor; cation channel sperm-associated protein subunit beta; cation channel, sperm associated beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:79820); (R-HSA-1300642)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "11237011;11595941;17227845;17460039;20144758;20164292;20648059;21412338;21412339;23530196;35051231;9452476", "class_list": "", "function": "Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization., [UniProtKB, UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 11, "predicted_n_glycosites": 11, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A0AV51", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036128 CatSper complex;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0097228 sperm principal piece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H7T0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0PJW8-1", "uniprot_id": [ { "id": "DAPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0PJW8", "type": "external" } ], "mass": 11880.0, "length": 107, "protein_name": "Death-associated protein-like 1", "gene_name": "DAPL1", "organism": "Human", "refseq_name": "death-associated protein-like 1", "refseq_ac": [ { "id": "NP_001017920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920", "type": "external" } ], "gene_names_uniprotkb": "DAPL1; EEDA", "gene_names_refseq": "DAPL1", "protein_names_uniprotkb": "Death-associated protein-like 1; Early epithelial differentiation-associated protein", "protein_names_refseq": "death-associated protein-like 1; early epithelial differentiation-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:92196)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;15920738;20800603;25680934;28334846;29171181;31154438;31844290;31848261;32157095;32161166;34915634;34946854;35561310;36241641", "class_list": "", "function": "Authors show that DAPL1 is a novel regulator of RPE cell proliferation that is important for the maintenance of the RPE as a monolayer. The findings suggest that DAPL1 dysregulation may be involved in abnormal RPE-related proliferative diseases and corresponding retinal dysfunctions in humans., [RefSeq, PubMed]; DAPL1 plays a role in epithelial differentiation and may be involved in apoptotic processes thereby suggesting a possible novel pathway in AMD pathogenesis., [RefSeq, PubMed]; Human retinal pigment epithelium (RPE) cell lines that the pigment cell transcription factor MITF regulates RPE cell proliferation by upregulating DAPL1 expression., [RefSeq, PubMed]; May play a role in the early stages of epithelial differentiation or in apoptosis., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Transcriptomics Analysis of Lens from Patients with Posterior Subcapsular Congenital Cataract. Publication Status: Online-Only, [RefSeq, PubMed]; [Hypomethylation of DAPL1 associated with prognosis of lung cancer patients with EGFR Del19 mutation]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0PJW9;B9EIK6", "ec_number_list": [], "go_molecular_function": "GO:0030371 translation repressor activity;GO:0043022 ribosome binding;GO:0031369 translation initiation factor binding;GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0097190 apoptotic signaling pathway;GO:0010507 negative regulation of autophagy;GO:2001186 negative regulation of CD8-positive, alpha-beta T cell activation;GO:0141014 ribosome hibernation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "A0PJW8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUP2-1", "uniprot_id": [ { "id": "FBLI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUP2", "type": "external" } ], "mass": 40670.0, "length": 373, "protein_name": "Filamin-binding LIM protein 1", "gene_name": "FBLIM1", "organism": "Human", "refseq_name": "filamin-binding LIM protein 1 isoform b", "refseq_ac": [ { "id": "NP_001019386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019386", "type": "external" } ], "gene_names_uniprotkb": "FBLIM1; FBLP1", "gene_names_refseq": "CAL; FBLIM1; FBLP-1; FBLP1", "protein_names_uniprotkb": "Filamin-binding LIM protein 1; FBLP-1; MIG2-interacting protein; Migfilin; Mitogen-inducible 2-interacting protein", "protein_names_refseq": "CSX-associated LIM; MIG2-interacting protein; filamin-binding LIM protein 1 isoform b; migfilin; mitogen-inducible 2 interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54751); (R-HSA-446353)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;12496242;12679033;16531412;18829455;19074766;25576301;29242379;29557506;29786170;30429286;30833945;31154438;31844290;31848261;32157095;32397996;32650789;32938616;33592498;33968037;34185709;35051231;36010968;36215666;36241641;37938771;38665916", "class_list": "", "function": "Genetic analyses of FBLIM1 did not provide evidence that this gene is relevant in our patient group. Our study indicates the need to elucidate SAPHO's and CRMO/CNO's pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO). Publication Status: Online-Only, [RefSeq, PubMed]; Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. Is implicated in cell shape modulation (spreading) and motility. May participate in the regulation of filamin-mediated cross-linking and stabilization of actin filaments. May also regulate the assembly of filamin-containing signaling complexes that control actin assembly. Promotes dissociation of FLNA from ITGB3 and ITGB7. Promotes activation of integrins and regulates integrin-mediated cell-cell adhesion., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The association between filamin B and FBLP-1 may play a hitherto unknown role in cytoskeletal function, cell adhesion, and cell motility., [RefSeq, PubMed]; This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KNY0;Q5VVE0;Q5VVE1;Q8IX23;Q96T00;Q9UFD6", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0031005 filamin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0030054 cell junction;GO:0001725 stress fiber", "go_biological_process": "GO:0033623 regulation of integrin activation;GO:0098609 cell-cell adhesion;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8WUP2-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBC3-1", "uniprot_id": [ { "id": "SHKB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBC3", "type": "external" } ], "mass": 76344.0, "length": 707, "protein_name": "SH3KBP1-binding protein 1", "gene_name": "SHKBP1", "organism": "Human", "refseq_name": "SH3KBP1-binding protein 1", "refseq_ac": [ { "id": "NP_612401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612401", "type": "external" } ], "gene_names_uniprotkb": "SHKBP1; PP203; SB1", "gene_names_refseq": "PP203; SHKBP1; Sb1", "protein_names_uniprotkb": "SH3KBP1-binding protein 1; SETA-binding protein 1", "protein_names_refseq": "SETA-binding protein 1; SH3KBP1-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:92799); (R-HSA-9013148)", "pathway_count": 2, "publication_count": 267, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15498874;15601624;15611138;15728722;15850391;15897194;16112081;16116428;16184169;16217026;16519628;16630611;16714282;16733801;16777452;16777849;16862148;16896804;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18426980;18653540;18669648;18786931;18835169;18838382;18929667;19605563;19934221;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21830225;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22970203;23186163;23200924;23255595;23406282;23434736;23481700;23572525;23718289;24086303;24259668;24335996;24352656;24366607;24584464;24715725;24933155;24996924;25024229;25211221;25418920;25576301;25645385;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26375851;26529257;26598554;26811146;26887924;26992070;27096001;27145964;27216196;27481945;27555588;27600516;27798618;27846572;27862975;27920218;28028151;28063628;28196833;28218747;28228285;28825699;28832583;28834231;28860633;28904123;28963344;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30061681;30315122;30524438;30853411;31217245;31844290;31871319;32157095;32203420;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34932366;35051231;35154160;35318648;35494241;35561310;35580925;36010968;36241641;36284347;37938771;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9659915;9670022;9829970;9843499;9846874", "class_list": "", "function": "Accessory subunit of potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3) up-regulating its cell-surface expression and current density without affecting its voltage dependence and kinetics., [UniProtKB, UniProtKB]; HSB1 may function as a regulator of cathepsin B-mediated apoptosis., [RefSeq, PubMed]; Inhibits CBL-SH3KBP1 complex mediated down-regulation of EGFR signaling by sequestration of SH3KBP1. Binds to SH3KBP1 and prevents its interaction with CBL and inhibits translocation of SH3KBP1 to EGFR containing vesicles upon EGF stimulation., [UniProtKB, UniProtKB]; SHKBP1 disturbed the translocation of CIN85 to EGFR-containing vesicles., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8N2I6;Q8WY93;Q96IB8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005764 lysosome;GO:0005886 plasma membrane", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 26.8, "record_id": "Q8TBC3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7LFL8-1", "uniprot_id": [ { "id": "CXXC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7LFL8", "type": "external" } ], "mass": 32977.0, "length": 322, "protein_name": "CXXC-type zinc finger protein 5", "gene_name": "CXXC5", "organism": "Human", "refseq_name": "CXXC-type zinc finger protein 5", "refseq_ac": [ { "id": "NP_001304128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304128", "type": "external" } ], "gene_names_uniprotkb": "CXXC5; HSPC195; TCCCIA00297", "gene_names_refseq": "CF5; CXXC5; HSPC195; RINF; WID", "protein_names_uniprotkb": "CXXC-type zinc finger protein 5; CF5; Putative MAPK-activating protein PM08; Putative NF-kappa-B-activating protein 102; RINF; Retinoid-inducible nuclear factor", "protein_names_refseq": "CXXC finger 5 protein; CXXC-type zinc finger protein 5; WT1-induced Inhibitor of Dishevelled; putative MAPK-activating protein PM08; putative NF-kappa-B-activating protein 102; retinoid-inducible nuclear factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:51523); (R-HSA-9018519)", "pathway_count": 2, "publication_count": 165, "publication_id_list": "10500157;10828826;10873660;11010967;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11452016;11581164;11682626;12498683;12612073;12761501;12959972;14631847;14675539;15001666;15276198;15282324;15343269;15345050;15514030;15986123;16009131;16046058;16087863;16113099;1630819;16980581;17013392;17277772;17463000;17495528;17510434;17637753;17666587;17690249;18187655;18219272;18256232;18322535;18358809;18476782;18533032;18762174;18805503;19001364;19020303;19098913;19182210;19274700;19295514;19321454;19383337;19557330;19718048;20219941;20220130;20498280;20570965;20682797;21106759;21151129;21445275;21573489;2181374;21835891;21878914;21934649;21940756;22056668;22265404;22492511;22545144;22704330;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23481700;23723241;23906331;24167369;24371278;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25633194;25645385;25663755;25674852;25728767;26056233;26153859;26204489;26375851;26462610;26479350;27062924;27886276;27920218;28218747;28539435;28832583;2919170;29242379;29276034;29393594;29557506;29632711;29786170;30315122;30429286;3045126;31154438;31217245;31530632;31844290;31998317;32157095;32502341;3281094;32983136;33123756;33141586;33298915;33592498;3498214;35051231;35580925;36241641;36539038;3677090;36831222;37355147;37524876;38253038;38642782;40596516;7559524;7935485;7937828;8195246;8197458;8419924;8876171;9201922;9338790;9388265;9611253;9671459;9731700", "class_list": "", "function": "CXXC5 Mediates DHT-Induced Androgenetic Alopecia via PGD2. Publication Status: Online-Only, [RefSeq, PubMed]; CXXC5 drove inflammation and ovarian cancer proliferation via transcriptional activation of ZNF143 and EGR1., [RefSeq, PubMed]; Inhibiting the cytosolic function of CXXC5 accelerates diabetic wound healing by enhancing angiogenesis and skin repair., [RefSeq, PubMed]; Inhibition of CXXC5 function rescues Alzheimer's disease phenotypes by restoring Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; May indirectly participate in activation of the NF-kappa-B and MAPK pathways. Acts as a mediator of BMP4-mediated modulation of canonical Wnt signaling activity in neural stem cells (By similarity). Required for DNA damage-induced ATM phosphorylation, p53 activation and cell cycle arrest. Involved in myelopoiesis. Transcription factor. Binds to the oxygen responsive element of COX4I2 and represses its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788). May repress COX4I2 transactivation induced by CHCHD2 and RBPJ (PubMed:23303788). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG (PubMed:29276034)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; RINF expression correlates with retinoid-induced differentiation of leukemic cells and with cytokine-induced myelopoiesis of normal CD34(+) progenitors., [RefSeq, PubMed]; The protein encoded by this gene is a retinoid-inducible nuclear protein containing a CXXC-type zinc finger motif. The encoded protein is involved in myelopoiesis, is required for DNA damage-induced p53 activation, regulates the differentiation of C2C12 myoblasts into myocytes, and negatively regulates cutaneous wound healing. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]., [RefSeq]; Zinc-finger protein CXXC5 promotes breast carcinogenesis by regulating the TSC1/mTOR signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KND0;C8CBA8;Q8TB79;Q9NV51;Q9P0S8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0008327 methyl-CpG binding;GO:0043565 sequence-specific DNA binding;GO:0140297 DNA-binding transcription factor binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0043467 regulation of generation of precursor metabolites and energy", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q7LFL8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60716-1", "uniprot_id": [ { "id": "CTND1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60716", "type": "external" } ], "mass": 108170.0, "length": 968, "protein_name": "Catenin delta-1", "gene_name": "CTNND1", "organism": "Human", "refseq_name": "catenin delta-1 isoform 1ABC", "refseq_ac": [ { "id": "NP_001078927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078927", "type": "external" } ], "gene_names_uniprotkb": "CTNND1; KIAA0384", "gene_names_refseq": "BCDS2; CAS; CTNND1; CTNND; P120CAS; P120CTN; p120(CAS); p120(CTN); p120", "protein_names_uniprotkb": "Catenin delta-1; CAS; Cadherin-associated Src substrate; p120 catenin; p120(cas); p120(ctn)", "protein_names_refseq": "cadherin-associated Src substrate; catenin (cadherin-associated protein), delta 1; catenin delta-1 isoform 1ABC; p120 catenin", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); autism spectrum disorder (Disease Ontology:DOID:0060041); blepharocheilodontic syndrome 2 (Disease Ontology:DOID:0080346); Middle East respiratory syndrome (Disease Ontology:DOID:0080642); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); pulmonary hypertension (Disease Ontology:DOID:6432); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:1500); (R-HSA-418990); (R-HSA-5218920); (R-HSA-8876493); (R-HSA-9762292); (R-HSA-9764302); (R-HSA-9764561); (R-HSA-9766229); (R-HSA-9833576); (R-HSA-9958810); (R-HSA-9958825)", "pathway_count": 11, "publication_count": 195, "publication_id_list": "10.1101/2023.09.13.557529;10075701;10207085;10225955;10320525;10406800;10861224;11237011;11278486;11777936;11804587;11896187;12050160;12370829;14517306;14610055;14699141;14996911;15240885;15951569;16467305;16964243;17016520;17047063;17060906;17081983;17115030;17194753;17344476;17389395;17487921;17627624;17686471;17967169;18212344;18220336;18343367;18364357;18452278;18491316;18555777;18578522;18624796;18653540;18669648;18707149;18950621;19138410;19354288;19413330;19415658;19651622;19664994;19664995;20058876;20068231;20112406;20123964;20166139;20371349;20564219;21251911;21406692;21468542;2183031;22036506;22117219;22223895;22323579;22798526;23186163;23301498;23457577;23524144;23542175;23783831;24008336;2405250;24275569;24714562;25009281;25253721;25372031;25386896;25418920;25466890;25548167;25576301;25645385;25892735;26067913;26154972;26280083;26992070;27220534;27516388;27600516;27846572;27862975;27920218;28051089;28063628;28228285;28278510;28301459;28317937;28510447;28649982;28740178;28832583;28834231;28855257;29110486;29207493;29242379;29356040;29393594;29508533;29557506;29632046;29735970;29741879;29786170;29789417;30315122;30379171;30429286;30484775;30524438;30626607;30779550;30808747;30833945;31092671;31154438;31217245;31222486;3133391;31346222;31844290;31848261;31998317;32063714;32157095;32161166;32350084;32387766;32488085;32502341;32928873;32938616;32983136;33123756;33592498;33717175;33912179;33968037;33981976;34019948;34171305;34215617;34229054;34509645;34561969;34725712;34932366;35051231;35251023;35318648;35580925;35934314;36010968;36215666;36241641;36284347;37209565;37938771;38134879;38665916;38796558;7510216;7512451;7623846;7806582;8140422;8234276;8601315;8626374;8662591;8662795;8672527;9219219;9653641;9705280;9845526", "class_list": "", "function": "CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions., [RefSeq, PubMed]; Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability (PubMed:14610055, PubMed:20371349). Promotes localization and retention of DSG3 at cell-cell junctions, via its interaction with DSG3 (PubMed:18343367). Beside cell-cell adhesion, regulates gene transcription through several transcription factors including ZBTB33/Kaiso2 and GLIS2, and the activity of Rho family GTPases and downstream cytoskeletal dynamics (PubMed:10207085, PubMed:20371349). Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors (PubMed:17344476)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; P120 regulates E-cadherin expression in nasal epithelial cells in chronic rhinosinusitis., [RefSeq, PubMed]; Tag, you're it: G-ICAT identifies p120-cysteine glutathionylation triggering E-cadherin destabilization., [RefSeq, PubMed]; The E3 ubiquitin ligase MIB1 suppresses breast cancer cell migration through regulating CTNND1 protein level., [RefSeq, PubMed]; This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 66, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K939;O15088;O60713;O60714;O60715;O60935;Q6DHZ7;Q6RBX8;Q9UP71;Q9UP72;Q9UP73", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0045296 cadherin binding;GO:0019212 phosphatase inhibitor activity;GO:0019902 phosphatase binding;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0010829 negative regulation of D-glucose transmembrane transport;GO:1902532 negative regulation of intracellular signal transduction;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "O60716-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2J0-1", "uniprot_id": [ { "id": "RP3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2J0", "type": "external" } ], "mass": 76872.0, "length": 694, "protein_name": "Rabphilin-3A", "gene_name": "RPH3A", "organism": "Human", "refseq_name": "rabphilin-3A isoform 1", "refseq_ac": [ { "id": "NP_001137326", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137326", "type": "external" } ], "gene_names_uniprotkb": "RPH3A; KIAA0985", "gene_names_refseq": "RPH3A", "protein_names_uniprotkb": "Rabphilin-3A; Exophilin-1", "protein_names_refseq": "exophilin-1; rabphilin 3A homolog; rabphilin-3A isoform 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:22895)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;15207266;29557506;30599141;31006500;31154438;31924649;35051231;37403762", "class_list": "", "function": "Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder., [RefSeq, PubMed]; Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity). At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP-dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity). In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability. Also plays a role in the exocytosis of arginine vasopressin hormone (By similarity)., [UniProtKB, UniProtKB]; Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people., [RefSeq, PubMed]; Rab27/Rabphilin3a/GRAB/Rab3 constitutes a signaling module in sperm exocytosis., [RefSeq, PubMed]; Small GTPase ARF6 Is a Coincidence-Detection Code for RPH3A Polarization in Neutrophil Polarization., [RefSeq, PubMed]; The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3C3;Q96AE0", "ec_number_list": [], "go_molecular_function": "GO:0042301 phosphate ion binding;GO:0070679 inositol 1,4,5 trisphosphate binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0030141 secretory granule;GO:0043197 dendritic spine;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0045956 positive regulation of calcium ion-dependent exocytosis;GO:0016082 synaptic vesicle priming;GO:0099502 calcium-dependent activation of synaptic vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9Y2J0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UMD9-1", "uniprot_id": [ { "id": "COHA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UMD9", "type": "external" } ], "mass": 150419.0, "length": 1497, "protein_name": "Collagen alpha-1(XVII) chain", "gene_name": "COL17A1", "organism": "Human", "refseq_name": "collagen alpha-1(XVII) chain", "refseq_ac": [ { "id": "NP_000485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000485", "type": "external" } ], "gene_names_uniprotkb": "COL17A1; BP180; BPAG2", "gene_names_refseq": "BA16H23.2; BP180; BPA-2; BPAG2; COL17A1; EBR2A; ERED; JEB-I; JEB4; LAD-1", "protein_names_uniprotkb": "Collagen alpha-1(XVII) chain; 120 kDa linear IgA dermatosis antigen; 180 kDa bullous pemphigoid antigen 2; 97 kDa LAD antigen; 97 kDa linear IgA bullous dermatosis antigen; 97-LAD; Bullous pemphigoid antigen 2; LABD97; LAD-1; Linear IgA bullous disease antigen of 97 kDa; Linear IgA disease antigen 1", "protein_names_refseq": "180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16H23.2 (collagen, type XVII, alpha 1 (BP180)); bullous pemphigoid antigen 2 (180kD); collagen XVII, alpha-1 polypeptide; collagen alpha-1(XVII) chain; type XVII collagen alpha-1", "tax_id": 9606, "disease": "junctional epidermolysis bullosa non-Herlitz type (Disease Ontology:DOID:0060738); epithelial recurrent erosion dystrophy (Disease Ontology:DOID:0070337); retinitis pigmentosa (Disease Ontology:DOID:10584); high grade glioma (Disease Ontology:DOID:3070); junctional epidermolysis bullosa (Disease Ontology:DOID:3209); middle cerebral artery infarction (Disease Ontology:DOID:3525); epidermolysis bullosa, junctional 4, intermediate (MONDO:MONDO:0030750)", "pathway": " (hsa:1308); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-198933); (R-HSA-2022090); (R-HSA-446107); (R-HSA-8948216)", "pathway_count": 7, "publication_count": 205, "publication_id_list": "10.1038/emboj.2013.79;10049780;10479448;10479533;10499918;10551873;10596943;10637308;10652291;10746781;10809722;10811835;10934207;10951237;10966814;11013208;11119712;11121125;11237011;11265639;11489943;11513152;11556966;11577169;11807247;11857637;11858820;11861603;11912005;11927537;11955593;11955595;11955599;12213321;12356719;12473679;12475640;12482924;12483297;12579531;12588680;12646579;12802069;1323838;1324962;1400327;14500733;14602708;14675210;14719373;14962097;14970179;15005656;15034010;15044469;15136729;15155468;15187158;15257288;15265795;15304001;15534202;15541655;15580655;15607800;1577494;15778510;15781451;15800062;15837520;15851719;15864273;15950618;16014749;16091383;16129954;16339513;16380601;16551255;16552711;16591531;16737824;16754721;16825197;16893496;16904340;16928187;1704217;17045824;17057721;17088321;171650;17237375;17337780;1748679;17545155;17924679;18031695;18037897;18055229;18209062;18234675;18487197;18593354;18622425;19075007;19149696;19242489;19359216;19592130;19693541;19901323;2005102;20470363;20730098;21241660;21593211;2169335;21800138;21841309;21877119;21878990;21935455;21967573;22241472;22382088;22396535;2253219;2307289;23481700;23584533;23695528;23719902;23929856;24305946;2537292;2543975;2548603;2551898;25576301;25676728;25703557;25716998;26284469;26300885;2834383;2845110;29508533;29557506;29588155;29789417;3038863;3173483;3223920;32387766;33592498;33968037;35051231;35494241;35580925;35722628;36010968;36284347;36412277;37289141;37803411;37979963;38253038;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7531291;7542404;7890717;8178173;8207089;8463259;8576151;8618013;8618014;8669466;8920930;8995416;8999957;9008168;9012408;9054364;9092507;9199555;9285412;9314561;9506436;9545296;9560306;9582318;9651395;9700512;9730896;9748270;9856810", "class_list": "", "function": "Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry., [RefSeq, PubMed]; Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane., [UniProtKB]; The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies., [UniProtKB]; This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]., [RefSeq]; What's new in the pathogeneses and triggering factors of bullous pemphigoid. Review article, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q02802;Q5JV36;Q99018;Q9NQK9;Q9UC14", "ec_number_list": [], "go_molecular_function": "GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0031012 extracellular matrix", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0008544 epidermis development;GO:0007160 cell-matrix adhesion;GO:0031581 hemidesmosome assembly", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q9UMD9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14910-1", "uniprot_id": [ { "id": "LIN7A_HUMAN", "url": "https://www.uniprot.org/uniprot/O14910", "type": "external" } ], "mass": 25997.0, "length": 233, "protein_name": "Protein lin-7 homolog A", "gene_name": "LIN7A", "organism": "Human", "refseq_name": "protein lin-7 homolog A isoform 1", "refseq_ac": [ { "id": "NP_004655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004655", "type": "external" } ], "gene_names_uniprotkb": "LIN7A; MALS1; VELI1", "gene_names_refseq": "LIN-7A; LIN7A; LIN7; MALS-1; MALS1; TIP-33; VELI1", "protein_names_uniprotkb": "Protein lin-7 homolog A; Lin-7A; MALS-1; Mammalian lin-seven protein 1; TIP-33; Tax interaction protein 33; Veli-1; Vertebrate lin-7 homolog 1; hLin-7", "protein_names_refseq": "lin-7 homolog A, crumbs cell polarity complex component; mammalian lin-seven protein 1; protein lin-7 homolog A isoform 1; tax interaction protein 33; vertebrate LIN7 homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8825); (R-HSA-212676); (R-HSA-6794361); (R-HSA-9609736)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10341223;11237011;11311936;11604393;12519779;12967566;15540461;15935055;16242404;16624946;16846852;17237226;17478680;17855605;17891149;17897391;17989281;17997397;18617632;18812509;18829961;20064387;20064388;20519524;21282647;25378172;25892735;26992070;27397612;27846572;27920218;28228285;28832583;28834231;29242379;29493099;29557506;29632046;30315122;30410026;30590034;31154438;31530632;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33392160;33691108;33912179;33936100;33968037;34171305;34357683;34509645;34932366;35051231;37938771;7695896;7736595;8576240;9069287;9482110;9701566;9753324;9808458;9927700", "class_list": "", "function": "Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity). This complex may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a protein complex that couples synaptic vesicle exocytosis to cell adhesion in the brain. [provided by RefSeq, May 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4FTY3;Q147W1;Q6LES3;Q7LDS4", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0097016 L27 domain binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0015031 protein transport;GO:0007269 neurotransmitter secretion;GO:0006887 exocytosis;GO:0048489 synaptic vesicle transport;GO:0008582 regulation of synaptic assembly at neuromuscular junction", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "O14910-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13425-1", "uniprot_id": [ { "id": "SNTB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13425", "type": "external" } ], "mass": 57950.0, "length": 540, "protein_name": "Beta-2-syntrophin", "gene_name": "SNTB2", "organism": "Human", "refseq_name": "beta-2-syntrophin", "refseq_ac": [ { "id": "NP_006741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006741", "type": "external" } ], "gene_names_uniprotkb": "SNTB2; D16S2531E; SNT2B2; SNTL", "gene_names_refseq": "D16S2531E; EST25263; SNT2B2; SNT3; SNTB2; SNTL", "protein_names_uniprotkb": "Beta-2-syntrophin; 59 kDa dystrophin-associated protein A1 basic component 2; SNT3; SNTL; Syntrophin-3; Syntrophin-like", "protein_names_refseq": "59 kDa dystrophin-associated protein A1 basic component 2; beta-2-syntrophin; dystrophin-associated protein A1, 59kD, basic component 2; syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2); syntrophin-3", "tax_id": 9606, "disease": "Duchenne muscular dystrophy (Disease Ontology:DOID:11723); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:6645); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 134, "publication_id_list": "10022829;10189375;10441321;10545507;10725395;10893187;10932245;10942431;11043403;11237011;11352924;11430802;11483505;11495720;12189167;1319059;14759258;15175026;16524571;17081983;17322306;17905726;17924679;18220336;18452278;18491316;18578522;18669648;18691976;18764929;18767875;19346169;19413330;19415658;19651622;19664994;19664995;19946898;20044576;20058876;20068231;20166139;20886068;22159078;22223806;23186163;23481700;23783831;24029068;24234652;24275569;24715725;25576301;25645385;26154972;26375851;26768311;26992070;27600516;27862975;27920218;28228285;28446606;28510447;28832583;28834231;28904123;29242379;29331515;29493099;29557506;29632711;29786170;30315122;30379171;30429286;30484775;30779550;30833945;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;3282674;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34357683;34405274;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;37938771;40596516;7527495;7547961;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8627307;8798547;8845841;9214383;9405466;9412493;9652404;9864373", "class_list": "", "function": "Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN., [UniProtKB]; Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9BY09", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0005516 calmodulin binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q13425-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75880-1", "uniprot_id": [ { "id": "SCO1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75880", "type": "external" } ], "mass": 33814.0, "length": 301, "protein_name": "Cytochrome c oxidase assembly factor SCO1", "gene_name": "SCO1", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly factor SCO1", "refseq_ac": [ { "id": "NP_004580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004580", "type": "external" } ], "gene_names_uniprotkb": "SCO1; SCOD1", "gene_names_refseq": "MC4DN4; SCO1; SCOD1", "protein_names_uniprotkb": "Cytochrome c oxidase assembly factor SCO1", "protein_names_refseq": "SCO cytochrome c oxidase assembly protein 1; SCO cytochrome oxidase deficient homolog 1; SCO1, cytochrome c oxidase assembly protein; cytochrome c oxidase assembly factor SCO1; protein SCO1 homolog, mitochondrial", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); mitochondrial complex IV deficiency nuclear type 4 (Disease Ontology:DOID:0070493); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); neurodegenerative disease (Disease Ontology:DOID:1289); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); liver disease (Disease Ontology:DOID:409); mitochondrial metabolism disease (Disease Ontology:DOID:700); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:6341); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "11013136;11027508;11237011;11579424;15229189;15659396;16735468;17182746;17189203;19336478;19503089;20068231;21872626;22342701;23125284;23260140;23345593;23481700;23746447;24403053;24714562;25576301;25645385;25892735;25926683;25959673;26160915;26321642;26375851;26728094;26992070;27600516;27693358;28082314;28199844;28330871;28832583;28834231;29154948;29242379;29508533;29557506;29632711;29786170;29789417;30833945;31154438;31217245;31222486;31536960;31844290;31848261;32157095;32317297;32350084;32375044;32488085;32502341;32897882;32938616;32983136;33141586;33691108;33717175;33912179;33968037;34171305;34932366;34969438;35051231;35318648;35494241;35580925;35750769;36010968;36241641;36284347;36581221;37938771;9843204;9878253", "class_list": "", "function": "Copper metallochaperone essential for the maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Together with SCO2, involved in delivering copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15229189, PubMed:15659396, PubMed:16735468, PubMed:17189203, PubMed:19336478). Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDM0", "ec_number_list": [], "go_molecular_function": "GO:0005507 copper ion binding;GO:0016531 copper chaperone activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0030016 myofibril", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O75880-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUD6-1", "uniprot_id": [ { "id": "RN135_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUD6", "type": "external" } ], "mass": 47888.0, "length": 432, "protein_name": "E3 ubiquitin-protein ligase RNF135", "gene_name": "RNF135", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF135 isoform 3", "refseq_ac": [ { "id": "NP_001171921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171921", "type": "external" } ], "gene_names_uniprotkb": "RNF135; L13", "gene_names_refseq": "L13; MMFD; REUL; RNF135; Riplet", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF135; 2.3.2.27; REUL; RIG-I E3 ubiquitin ligase; RING finger protein 135; RING finger protein leading to RIG-I activation; RING-type E3 ubiquitin transferase RNF135; Riplet", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF135 isoform 3; E3 ubiquitin-protein ligase RNF135; RIG-I E3 ubiquitin ligase; RING finger protein leading to RIG-I activation; RING-type E3 ubiquitin transferase RNF135", "tax_id": 9606, "disease": "", "pathway": " (hsa:84282); (R-HSA-168928); (R-HSA-5689896); (R-HSA-918233); (R-HSA-933541); (R-HSA-933542); (R-HSA-933543); (R-HSA-936440); (R-HSA-9705671)", "pathway_count": 9, "publication_count": 184, "publication_id_list": "10082512;10385526;10421793;10581243;11002417;11073981;11237011;11244049;11463333;11717445;12019269;12107169;12133833;12221085;12604599;12692549;12696059;12759408;12884866;14661020;14703513;15208624;15258597;15334068;15334086;15361868;16125763;16127453;16153868;16281057;16306936;16394098;16585540;16618810;16699525;16715065;16846591;16858409;16914100;17190786;17327220;17392790;17526488;17600090;17632510;17991829;18057259;18200010;18307765;18591409;18761323;19017631;19125153;19291764;19383985;19464428;19479062;19484123;19531363;19666475;19668221;19818707;19881509;19893624;19996094;20043992;20304918;20403326;20434986;20553488;20627800;20628368;21147464;21632562;22124327;22619329;22941947;23453971;23827681;23950712;24610782;24715725;24722368;24755855;25576301;25645385;25880248;25892735;25904330;26154972;26280536;26992070;28469175;28832583;28834231;28855257;28904123;29242379;29393594;29557506;30059200;30315122;30429286;31006531;31530632;31844290;31848261;31850239;32157095;32353859;32357974;32428392;32502341;32589897;32726803;32728199;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33298915;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33936100;33963333;33968037;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;35051231;35102342;35254053;35580925;35643212;36010968;36495591;37051252;38056362;38154055;38459884;39118262;39894887;9008162;9463386;9541017;9660935;9689078;9822609", "class_list": "", "function": "A pan-cancer analysis of ring finger protein 135 and its relationship to triple-negative breast cancer proliferation and metastasis., [RefSeq, PubMed]; E2-dependent E3 ubiquitin-protein ligase that functions as a RIGI coreceptor in the sensing of viral RNAs in cell cytoplasm and the activation of the antiviral innate immune response (PubMed:19017631, PubMed:19484123, PubMed:21147464, PubMed:23950712, PubMed:28469175, PubMed:31006531). Together with the UBE2D3, UBE2N and UB2V1 E2 ligases, catalyzes the 'Lys-63'-linked polyubiquitination of RIGI oligomerized on viral RNAs, an essential step in the activation of the RIG-I signaling pathway (PubMed:19017631, PubMed:21147464, PubMed:28469175, PubMed:31006531). Through a ubiquitin-independent parallel mechanism, which consists in bridging RIGI filaments forming on longer viral RNAs, further activates the RIG-I signaling pathway (PubMed:31006531). This second mechanism that synergizes with the ubiquitin-dependent one would thereby allow an RNA length-dependent regulation of the RIG-I signaling pathway (Probable). Associated with the E2 ligase UBE2N, also constitutively synthesizes unanchored 'Lys-63'-linked polyubiquitin chains that may also activate the RIG-I signaling pathway (PubMed:28469175, PubMed:31006531)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Plasma methylated GNB4 and Riplet as a novel dual-marker panel for the detection of hepatocellular carcinoma., [RefSeq, PubMed]; RNF135 Promotes Human Osteosarcoma Cell Growth and Inhibits Apoptosis by Upregulating the PI3K/AKT Pathway., [RefSeq, PubMed]; RNF135 promotes cell proliferation and autophagy in lung adenocarcinoma by promoting the phosphorylation of ULK1. Publication Status: Online-Only, [RefSeq, PubMed]; The E3 ubiquitin ligase RNF135 modulates chemotherapy resistance to oxaliplatin for colorectal cancer by modulating autophagy., [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AVM5;B2R7G9;B6ZLM5;F5GX60;Q9BSE9", "ec_number_list": [ { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "type": "external" }, { "id": "3.4.22.63", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.63", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0043021 ribonucleoprotein complex binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0010494 cytoplasmic stress granule;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0045087 innate immune response;GO:0051260 protein homooligomerization;GO:0016567 protein ubiquitination;GO:0000209 protein polyubiquitination;GO:0070534 protein K63-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "Q8IUD6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25025-1", "uniprot_id": [ { "id": "CXCR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P25025", "type": "external" } ], "mass": 40759.0, "length": 360, "protein_name": "C-X-C chemokine receptor type 2", "gene_name": "CXCR2", "organism": "Human", "refseq_name": "C-X-C chemokine receptor type 2", "refseq_ac": [ { "id": "NP_001161770", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161770", "type": "external" } ], "gene_names_uniprotkb": "CXCR2; IL8RB", "gene_names_refseq": "CD182; CDw128b; CMKAR2; CXCR2; IL8R2; IL8RA; IL8RB; WHIMS2", "protein_names_uniprotkb": "C-X-C chemokine receptor type 2; CDw128b; CXC-R2; CXCR-2; GRO/MGSA receptor; High affinity interleukin-8 receptor B; IL-8 receptor type 2; IL-8R B", "protein_names_refseq": "C-X-C chemokine receptor type 2; CXC-R2; CXCR-2; CXCR2 gene for IL8 receptor type B; GRO/MGSA receptor; IL-8 receptor type 2; IL-8R B; chemokine (CXC) receptor 2; high affinity interleukin-8 receptor B; interleukin 8 receptor type 2; interleukin 8 receptor, beta; interleukin-8 receptor type B", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); WHIM syndrome 2 (Disease Ontology:DOID:0060973); nephritis (Disease Ontology:DOID:10952); urinary bladder cancer (Disease Ontology:DOID:11054); nephroblastoma (Disease Ontology:DOID:2154); IgA glomerulonephritis (Disease Ontology:DOID:2986); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); demyelinating disease (Disease Ontology:DOID:3213); acute pyelonephritis (Disease Ontology:DOID:559); end stage renal disease (Disease Ontology:DOID:783); periapical periodontitis (Disease Ontology:DOID:823); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:3579); (R-HSA-380108); (R-HSA-418594); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11196695;11237011;12120503;12149255;12554737;12884299;1379593;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;22850671;23650620;2423119;24777453;2534964;2748346;2834384;2970963;3098319;32502341;3260265;34171305;34357683;35051231;35076390;38627393;38715171;38724465;39244903;7512557;7602097;7622448;7642634;7679328;7851893;7875320;7929358;7937899;8015379;8048929;8383238;8384312;8406495;8639485;8662698;8692836;8849694;9024663;9079638;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "CD276 regulates the immune escape of esophageal squamous cell carcinoma through CXCL1-CXCR2 induced NETs. Publication Status: Online-Only, [RefSeq, PubMed]; CXCL5 activates CXCR2 in nociceptive sensory neurons to drive joint pain and inflammation in experimental gouty arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; CXCR2/Snail-1-Induced Epithelial-Mesenchymal Transition in the Formation and Progression of RCC with Inferior Vena Cava Tumour Thrombus., [RefSeq, PubMed]; IL-8 promotes lens capsular residual cells migration by down-regulates expression of E-cadherin and ZO-1 via the CXCR1/2-NF-kappaB-RhoA signal pathway., [RefSeq, PubMed]; Receptor for interleukin-8 which is a powerful neutrophil chemotactic factor (PubMed:1891716). Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:8662698). Binds to IL-8 with high affinity. Also binds with high affinity to CXCL3, GRO/MGSA and NAP-2 (PubMed:1891716). Involved in the homeostatic wound healing response to tissue injury, a multistep cascade that guides neutrophil migration to necrotic sites while avoiding collateral damage of healthy tissues. Signals intravascular neutrophil chemotaxis to the injury site., [UniProtKB, PubMed, PubMed, UniProtKB]; Receptor for interleukin-8 which is a powerful neutrophil chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Binds to IL-8 with high affinity. Also binds with high affinity to CXCL3, GRO/MGSA and NAP-2. Involved in the homeostatic wound healing response to tissue injury, a multistep cascade that guides neutrophil migration to necrotic sites while avoiding collateral damage of healthy tissues. Signals intravascular neutrophil chemotaxis to the injury site., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IUZ1;Q9P2T6;Q9P2T7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0016494 C-X-C chemokine receptor activity;GO:0019957 C-C chemokine binding;GO:0019959 interleukin-8 binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0009897 external side of plasma membrane;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P25025-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49959-1", "uniprot_id": [ { "id": "MRE11_HUMAN", "url": "https://www.uniprot.org/uniprot/P49959", "type": "external" } ], "mass": 80593.0, "length": 708, "protein_name": "Double-strand break repair protein MRE11", "gene_name": "MRE11", "organism": "Human", "refseq_name": "double-strand break repair protein MRE11 isoform 2", "refseq_ac": [ { "id": "NP_005581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005581", "type": "external" } ], "gene_names_uniprotkb": "MRE11; HNGS1; MRE11A", "gene_names_refseq": "ATLD; HNGS1; MRE11A; MRE11B; MRE11", "protein_names_uniprotkb": "Double-strand break repair protein MRE11; 3.1.-.-; MRE11 homolog 1; MRE11 homolog A; Meiotic recombination 11 homolog 1; Meiotic recombination 11 homolog A", "protein_names_refseq": "AT-like disease; DNA recombination and repair protein; MRE11 double strand break repair nuclease A; MRE11 homolog 1; MRE11 homolog A, double strand break repair nuclease; MRE11 homolog, double strand break repair nuclease A; MRE11 meiotic recombination 11 homolog A; MRE11 meiotic recombination 11-like protein A; double-strand break repair protein MRE11 isoform 2; double-strand break repair protein MRE11A; endo/exonuclease Mre11; meiotic recombination 11 homolog 1; meiotic recombination 11 homolog A", "tax_id": 9606, "disease": "ataxia-telangiectasia-like disorder 1 (Disease Ontology:DOID:0081384); intestinal cancer (Disease Ontology:DOID:10155); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); rectum cancer (Disease Ontology:DOID:1993); colon cancer (Disease Ontology:DOID:219); ovarian cancer (Disease Ontology:DOID:2394); malignant astrocytoma (Disease Ontology:DOID:3069); breast carcinoma (Disease Ontology:DOID:3459); liver cancer (Disease Ontology:DOID:3571); Lynch syndrome (Disease Ontology:DOID:3883); skin cancer (Disease Ontology:DOID:4159); stomach carcinoma (Disease Ontology:DOID:5517)", "pathway": " (hsa:4361); (R-HSA-1834949); (R-HSA-2559586); (R-HSA-3270619); (R-HSA-5685938); (R-HSA-5685939); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693548); (R-HSA-5693554); (R-HSA-5693565); (R-HSA-5693568); (R-HSA-5693571); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-912446); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)", "pathway_count": 24, "publication_count": 524, "publication_id_list": 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"class_list": "", "function": "Binding of the TRF2 iDDR motif to RAD50 highlights a convergent evolutionary strategy to inactivate MRN at telomeres., [RefSeq, PubMed]; Core component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:11741547, PubMed:14657032, PubMed:22078559, PubMed:23080121, PubMed:24316220, PubMed:26240375, PubMed:27889449, PubMed:28867292, PubMed:29670289, PubMed:30464262, PubMed:30612738, PubMed:31353207, PubMed:37696958, PubMed:38128537, PubMed:9590181, PubMed:9651580, PubMed:9705271). The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases (PubMed:24316220, PubMed:28867292, PubMed:31353207, PubMed:38128537). The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage (PubMed:24316220, PubMed:27889449, PubMed:28867292, PubMed:36050397, PubMed:38128537). Within the MRN complex, MRE11 possesses both single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity (PubMed:11741547, PubMed:22078559, PubMed:24316220, PubMed:26240375, PubMed:27889449, PubMed:29670289, PubMed:31353207, PubMed:36563124, PubMed:9590181, PubMed:9651580, PubMed:9705271). After DSBs, MRE11 is loaded onto DSBs sites and cleaves DNA by cooperating with RBBP8/CtIP to initiate end resection (PubMed:27814491, PubMed:27889449, PubMed:30787182). MRE11 first endonucleolytically cleaves the 5' strand at DNA DSB ends to prevent non-homologous end joining (NHEJ) and licence HR (PubMed:24316220). It then generates a single-stranded DNA gap via 3' to 5' exonucleolytic degradation to create entry sites for EXO1- and DNA2-mediated 5' to 3' long-range resection, which is required for single-strand invasion and recombination (PubMed:24316220, PubMed:28867292). RBBP8/CtIP specifically promotes the endonuclease activity of MRE11 to clear protein-DNA adducts and generate clean double-strand break ends (PubMed:27814491, PubMed:27889449, PubMed:30787182). MRE11 endonuclease activity is also enhanced by AGER/RAGE (By similarity). The MRN complex is also required for DNA damage signaling via activation of the ATM and ATR kinases: the nuclease activity of MRE11 is not required to activate ATM and ATR (PubMed:14657032, PubMed:15064416, PubMed:15790808, PubMed:16622404). The MRN complex is also required for the processing of R-loops (PubMed:31537797). The MRN complex is involved in the activation of the cGAS-STING pathway induced by DNA damage during tumorigenesis: the MRN complex acts by displacing CGAS from nucleosome sequestration, thereby activating it (By similarity). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; MRE11 and TREX1 control senescence by coordinating replication stress and interferon signaling. Publication Status: Online-Only, [RefSeq, PubMed]; MRE11 contains two DNA-binding domains (DBDs), enabling it to bind both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA)., [UniProtKB]; MRE11 liberates cGAS from nucleosome sequestration during tumorigenesis., [RefSeq, PubMed]; MRE11A: a novel negative regulator of human DNA mismatch repair. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 31, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KTC7;O43475", "ec_number_list": [ { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.14.11.69", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.69", "type": "external" }, { "id": "1.14.11.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.66", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.4.19.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.-", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.2", "type": "external" } ], "go_molecular_function": "GO:0008296 3'-5'-DNA exonuclease activity;GO:0030145 manganese ion binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016605 PML body", "go_biological_process": "GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0043066 negative regulation of apoptotic process;GO:0000723 telomere maintenance;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 52.9, "record_id": "P49959-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75711-1", "uniprot_id": [ { "id": "SCRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75711", "type": "external" } ], "mass": 11081.0, "length": 98, "protein_name": "Scrapie-responsive protein 1", "gene_name": "SCRG1", "organism": "Human", "refseq_name": "scrapie-responsive protein 1 precursor", "refseq_ac": [ { "id": "NP_001316526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316526", "type": "external" } ], "gene_names_uniprotkb": "SCRG1; PRO725", "gene_names_refseq": "SCRG-1; SCRG1; lincSCRG1", "protein_names_uniprotkb": "Scrapie-responsive protein 1; ScRG-1; Scrapie-responsive gene 1 protein", "protein_names_refseq": "scrapie responsive gene 1; scrapie-responsive gene 1 protein; scrapie-responsive protein 1 precursor; scrapie-responsive protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11341)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12975309;15340161;24413464;24715725;30226813;32134193;35720295;36770940;9660755", "class_list": "", "function": "Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects., [RefSeq, PubMed]; High lncRNA in SCRG1 gene expression is associated with liver fibrosis., [RefSeq, PubMed]; Identification of SCRG1 as a Potential Therapeutic Target for Human Synovial Inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a Novel Angiogenesis Signalling circSCRG1/miR-1268b/NR4A1 Pathway in Atherosclerosis and the Regulatory Effects of TMP-PF In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Novel SCRG1/BST1 axis regulates self-renewal, migration, and osteogenic differentiation potential in mesenchymal stem cells. GeneRIF: Aomatsu et al. identified a novel SCRG1/BST1 (CD157) ligand-receptor combination that maintains human mesenchymal stem cells expressions of stem cell markers Oct-4 and CD271 (LNGFR), as well as self-renewal, migration, and osteogenic differentiation potentials during ex vivo expansion. Publication Status: Online-Only, [RefSeq, PubMed]; Scrapie-responsive gene 1 is associated with neurodegenerative changes observed in transmissible spongiform encephalopathies. It may play a role in host response to prion-associated infections. The scrapie responsive protein 1 may be partly included in the membrane or secreted by the cells due to its hydrophobic N-terminus. In addition, the encoded protein can interact with bone marrow stromal cell antigen 1 (BST1) to enhance the differentiation potentials of human mesenchymal stem cells during tissue and bone regeneration. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0044306 neuron projection terminus", "go_biological_process": "GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "O75711-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVK8-1", "uniprot_id": [ { "id": "TM147_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVK8", "type": "external" } ], "mass": 25261.0, "length": 224, "protein_name": "BOS complex subunit TMEM147", "gene_name": "TMEM147", "organism": "Human", "refseq_name": "BOS complex subunit TMEM147 isoform 2", "refseq_ac": [ { "id": "NP_001229526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229526", "type": "external" } ], "gene_names_uniprotkb": "TMEM147", "gene_names_refseq": "NEDFLPH; NIFIE14; TMEM147", "protein_names_uniprotkb": "BOS complex subunit TMEM147; Protein NIFIE 14; Transmembrane protein 147", "protein_names_refseq": "BOS complex subunit TMEM147 isoform 2; BOS complex subunit TMEM147; protein NIFIE 14; seven transmembrane domain protein", "tax_id": 9606, "disease": "neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly (MONDO:MONDO:0859298)", "pathway": " (hsa:10430)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "11237011;20112406;20538592;21056967;23481700;24397554;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26811146;26929215;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;32157095;32265295;32357974;32387766;32488085;32502341;32694168;32820719;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34509645;34638576;34932366;35051231;35318648;35580925;36010968;36044892;36215666;36241641;36261522;36284347;37305689;37668766;37938771", "class_list": "", "function": "A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity., [RefSeq, PubMed]; Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huet anomaly., [RefSeq, PubMed]; Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Also acts as a negative regulator of CHRM3 function, most likely by interfering with its trafficking to the cell membrane (PubMed:21056967). Negatively regulates CHRM3-mediated calcium mobilization and activation of RPS6KA1/p90RSK activity (PubMed:21056967). Regulates LBR localization to the nucleus inner membrane (PubMed:32694168)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Regulation of ER Composition and Extent, and Putative Action in Protein Networks by ER/NE Protein TMEM147. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM147 Correlates with Immune Infiltration and Serve as a Potential Prognostic Biomarker in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM147 is a novel core component of the Nicalin-NOMO complex, further emphasizing its similarity with gamma-secretase., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MWW0;O75790", "ec_number_list": [], "go_molecular_function": "GO:0043022 ribosome binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane;GO:0032991 protein-containing complex;GO:0160064 multi-pass translocon complex", "go_biological_process": "GO:0036228 protein localization to nuclear inner membrane;GO:0160063 multi-pass transmembrane protein insertion into ER membrane", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9BVK8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09919-1", "uniprot_id": [ { "id": "CSF3_HUMAN", "url": "https://www.uniprot.org/uniprot/P09919", "type": "external" } ], "mass": 22293.0, "length": 207, "protein_name": "Granulocyte colony-stimulating factor", "gene_name": "CSF3", "organism": "Human", "refseq_name": "granulocyte colony-stimulating factor isoform a precursor", "refseq_ac": [ { "id": "NP_000750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000750", "type": "external" } ], "gene_names_uniprotkb": "CSF3; C17orf33; GCSF", "gene_names_refseq": "C17orf33; CSF3OS; CSF3; GCSF", "protein_names_uniprotkb": "Granulocyte colony-stimulating factor; G-CSF; Pluripoietin", "protein_names_refseq": "filgrastim; granulocyte colony-stimulating factor isoform a precursor; granulocyte-colony stimulating factor; lenograstim; pluripoietin", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); stroke (Disease Ontology:DOID:0051061); COVID-19 (Disease Ontology:DOID:0080600); pleurisy (Disease Ontology:DOID:10247); allergic cutaneous vasculitis (Disease Ontology:DOID:11450); anterior ischemic optic neuropathy (Disease Ontology:DOID:12010); neutropenia (Disease Ontology:DOID:1227); cognitive disorder (Disease Ontology:DOID:1561); cystitis (Disease Ontology:DOID:1679); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); asthma (Disease Ontology:DOID:2841); middle cerebral artery infarction (Disease Ontology:DOID:3525); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); lung disease (Disease Ontology:DOID:850); myeloid leukemia (Disease Ontology:DOID:8692); bacterial pneumonia (Disease Ontology:DOID:874); acute myeloid leukemia (Disease Ontology:DOID:9119); pulmonary emphysema (Disease Ontology:DOID:9675); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:1440); (R-HSA-449836); (R-HSA-6783783); (R-HSA-9674555); (R-HSA-9705462)", "pathway_count": 5, "publication_count": 107, "publication_id_list": "10092818;10395686;10415057;10433356;10438516;10537111;10643150;11237011;12133942;12469119;12554859;12558796;12626585;1281794;12832402;12946100;14512302;1460289;15028279;15107455;15601820;15919823;16488976;16492764;16720384;16982608;1701053;17363902;17879956;18467591;18644434;1940369;1940799;19453968;20145033;21431281;2147944;21716315;23291588;23744080;2420009;24220695;2423327;24743777;25662098;26095744;30644389;31844290;31986264;32222466;32488085;33968037;3484805;3494801;35051231;36175465;36911097;37169737;37824822;37922289;7510216;7512027;7512451;7512720;7516408;7518249;7521688;7543512;7593617;7594602;7615501;7684412;7685117;7685769;7687627;7805849;7902377;8063757;8102388;8120391;8163946;8186324;8197119;8301137;8537680;8554326;8662928;8734788;8742066;8871669;8897595;8910398;8921438;8946277;8977235;9013939;9226159;9312047;9354687;9422780;9449724;9550426;9794440;9836587;9864153;9885206;9918218", "class_list": "", "function": "Elevated G-CSF, IL8, and HGF in patients with definite Meniere's disease may indicate the role of NET formation in triggering autoimmunity and autoinflammation. Publication Status: Online-Only, [RefSeq, PubMed]; G-CSF reshapes the cytosolic PCNA scaffold and modulates glycolysis in neutrophils., [RefSeq, PubMed]; Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages. This CSF induces granulocytes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; P140Cap inhibits beta-Catenin in the breast cancer stem cell compartment instructing a protective anti-tumor immune response. Publication Status: Online-Only, [RefSeq, PubMed]; Serum cytokines MCP-1 and GCS-F as potential biomarkers in pediatric inflammatory bowel disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the IL-6 superfamily of cytokines. The encoded cytokine controls the production, differentiation, and function of granulocytes. Granulocytes are a type of white blood cell that are part of the innate immune response. A modified form of this protein is commonly administered to manage chemotherapy-induced neutropenia. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2020]., [RefSeq]; Tumor-derived GCSF Alters Tumor and Systemic Immune System Cell Subset Composition and Signaling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic; monitoring", "glycan_count": 0, "disease_count": 21, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MXR7", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity;GO:0005130 granulocyte colony-stimulating factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0043202 lysosomal lumen;GO:0071682 endocytic vesicle lumen", "go_biological_process": "GO:0030851 granulocyte differentiation;GO:0006955 immune response;GO:0008284 positive regulation of cell population proliferation;GO:0045471 response to ethanol;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P09919-1", "record_type": "protein", "filter_code": "0101000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0U4-1", "uniprot_id": [ { "id": "CXXC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0U4", "type": "external" } ], "mass": 75712.0, "length": 656, "protein_name": "CXXC-type zinc finger protein 1", "gene_name": "CXXC1", "organism": "Human", "refseq_name": "CXXC-type zinc finger protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001095124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095124", "type": "external" } ], "gene_names_uniprotkb": "CXXC1; CFP1; CGBP; PCCX1; PHF18", "gene_names_refseq": "2410002I16Rik; 5830420C16Rik; CFP1; CGBP; CXXC1; HsT2645; PCCX1; PHF18; SPP1; ZCGPC1; hCGBP", "protein_names_uniprotkb": "CXXC-type zinc finger protein 1; CpG-binding protein; PHD finger and CXXC domain-containing protein 1", "protein_names_refseq": "CXXC finger 1 (PHD domain); CXXC-type zinc finger protein 1 isoform 1; CXXC-type zinc finger protein 1; CpG binding protein; DNA-binding protein with PHD finger and CXXC domain; PHD finger and CXXC domain-containing protein 1; cpG-binding protein; zinc finger, CpG binding-type containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:30827); (R-HSA-381038); (R-HSA-9772755)", "pathway_count": 3, "publication_count": 146, "publication_id_list": "10601334;10688657;10799292;10827079;11230166;11237011;11572867;12200428;12204115;12393701;12482972;12670868;14636557;14992727;15199122;15466936;16227571;16239140;16253997;16461360;16539657;16829959;16878130;16892064;17355966;17500065;17612494;17671196;17925232;17998332;18452278;18598942;18664523;18669648;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19556245;19651622;20018852;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;21282569;21406692;21407193;22266653;22327296;22645359;22652693;22665483;23178126;23186163;23481700;23508102;23995757;24244196;24368734;24680668;24715725;25218447;25418920;25561738;25576301;25593305;26154972;26324722;26886794;26992070;27563068;27698142;27760318;28182322;28218747;28228285;28398509;28832583;28834231;28904123;29138278;29242379;29393594;29508533;29557506;29632046;29786170;29897600;29937342;30315122;30429286;30484775;30779550;31154438;31222486;31400120;31485071;31544921;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33657400;33691108;33912179;33936100;33968037;33981976;34012049;34211107;34320252;34932366;34933446;35033534;35051231;35190547;35318648;35439434;35580925;35864225;36010968;36215666;36284347;37270588;38196272;7590364;8666242;9037597;9450183;9473480", "class_list": "", "function": "Analyzing the impact of CFP1 mutational landscape on epigenetic signaling. Review article, [RefSeq, PubMed]; CFP1 governs uterine epigenetic landscapes to intervene in progesterone responses for uterine physiology and suppression of endometriosis. Publication Status: Online-Only, [RefSeq, PubMed]; Cfp1 Controls Cardiomyocyte Maturation by Modifying Histone H3K4me3 of Structural, Metabolic, and Contractile Related Genes., [RefSeq, PubMed]; CpG-binding protein CFP1 promotes ovarian cancer cell proliferation by regulating BST2 transcription., [RefSeq, PubMed]; This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebrate development. [provided by RefSeq, Sep 2015]., [RefSeq]; Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs with a preference for CpGG., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RC03;Q8N2W4;Q96BC8;Q9P2V7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000987 cis-regulatory region sequence-specific DNA binding;GO:0045322 unmethylated CpG binding;GO:0140002 histone H3K4me3 reader activity;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0016363 nuclear matrix;GO:0035097 histone methyltransferase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q9P0U4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54829-1", "uniprot_id": [ { "id": "PTN5_HUMAN", "url": "https://www.uniprot.org/uniprot/P54829", "type": "external" } ], "mass": 63538.0, "length": 565, "protein_name": "Tyrosine-protein phosphatase non-receptor type 5", "gene_name": "PTPN5", "organism": "Human", "refseq_name": "tyrosine-protein phosphatase non-receptor type 5 isoform b", "refseq_ac": [ { "id": "NP_001035059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035059", "type": "external" } ], "gene_names_uniprotkb": "PTPN5", "gene_names_refseq": "PTPN5; PTPSTEP; STEP61; STEP", "protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 5; 3.1.3.48; Neural-specific protein-tyrosine phosphatase; STEP; Striatum-enriched protein-tyrosine phosphatase", "protein_names_refseq": "neural-specific protein-tyrosine phosphatase; protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched); protein-tyrosine phosphatase striatum-enriched; striatal-enriched protein tyrosine phosphatase; striatum-enriched protein-tyrosine phosphatase; tyrosine-protein phosphatase non-receptor type 5 isoform b; tyrosine-protein phosphatase non-receptor type 5", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:84867); (R-HSA-9008059)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11145836;11237011;11839743;12096920;12381835;12809600;15527767;16441242;18390730;20935647;21777200;24481253;25729923;27060871;28092676;29557506;30484775;32387766;32461127;33968037;34270805;35051231;36639708;7490079", "class_list": "", "function": "Inhibition of striatal-enriched protein tyrosine phosphatase (STEP) activity reverses behavioral deficits in a rodent model of autism., [RefSeq, PubMed]; May regulate the activity of several effector molecules involved in synaptic plasticity and neuronal cell survival, including MAPKs, Src family kinases and NMDA receptors., [UniProtKB, PubMed]; PTPN5 promotes follicle-stimulating hormone secretion through regulating intracellular calcium homeostasis., [RefSeq, PubMed]; Tyrosine phosphatase STEP61 in human dementia and in animal models with amyloid and tau pathology. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KXG7;B7Z386;B7ZAF5;D3DQY7;Q6P1Z2;Q8N2A1;Q8NDP8", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0019901 protein kinase binding;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030054 cell junction", "go_biological_process": "GO:0007165 signal transduction;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P54829-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGM5-1", "uniprot_id": [ { "id": "FETUB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGM5", "type": "external" } ], "mass": 42055.0, "length": 382, "protein_name": "Fetuin-B", "gene_name": "FETUB", "organism": "Human", "refseq_name": "fetuin-B isoform 3 precursor", "refseq_ac": [ { "id": "NP_001295008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295008", "type": "external" } ], "gene_names_uniprotkb": "FETUB", "gene_names_refseq": "16G2; FETUB; Gugu; IRL685", "protein_names_uniprotkb": "Fetuin-B; 16G2; Fetuin-like protein IRL685; Gugu", "protein_names_refseq": "fetuin-B isoform 3 precursor; fetuin-like protein IRL685", "tax_id": 9606, "disease": "", "pathway": " (hsa:26998)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10947975;11237011;15280384;15499407;16335952;23090970;23562279;24275569;27452731;29391424;29557506;29671580;29741879;30459171;32157095;32382986;32892030;35051231;35896788;37074911;37883127", "class_list": "", "function": "Fetuin B overexpression suppresses proliferation, migration, and invasion in prostate cancer by inhibiting the PI3K/AKT signaling pathway., [RefSeq, PubMed]; Fetuin-B Overexpression Promotes Inflammation in Diabetic Retinopathy Through Activating Microglia and the NF-kappaB Signaling Pathway., [RefSeq, PubMed]; Fetuin-B regulates vascular plaque rupture via TGF-beta receptor-mediated Smad pathway in vascular smooth muscle cells., [RefSeq, PubMed]; Hepatokine Fetuin B expression is regulated by leptin-STAT3 signalling and associated with leptin in obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Protease inhibitor required for egg fertilization. Required to prevent premature zona pellucida hardening before fertilization, probably by inhibiting the protease activity of ASTL, a protease that mediates the cleavage of ZP2 and triggers zona pellucida hardening (By similarity)., [UniProtKB]; Serum fetuin has a role in processing and transport of matrix gamma-carboxyglutamic acid protein and bone morphogenetic protein-2 in cultured human vascular smooth muscle cells, [RefSeq, PubMed]; The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 8645, "biomarker_type": "", "glycan_count": 33, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B2RCW6;E9PG06;Q1RMZ0;Q5J876;Q6DK58;Q6GRB6;Q9Y6Z0", "ec_number_list": [], "go_molecular_function": "GO:0004869 cysteine-type endopeptidase inhibitor activity;GO:0008191 metalloendopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0070062 extracellular exosome;GO:0005615 extracellular space", "go_biological_process": "GO:0007339 binding of sperm to zona pellucida;GO:0007338 single fertilization;GO:0010951 negative regulation of endopeptidase activity", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9UGM5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQA9-1", "uniprot_id": [ { "id": "CYBC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQA9", "type": "external" } ], "mass": 20774.0, "length": 187, "protein_name": "Cytochrome b-245 chaperone 1", "gene_name": "CYBC1", "organism": "Human", "refseq_name": "cytochrome b-245 chaperone 1 isoform a", "refseq_ac": [ { "id": "NP_001028218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028218", "type": "external" } ], "gene_names_uniprotkb": "CYBC1; C17orf62; EROS", "gene_names_refseq": "C17orf62; CGD5; CYBC1; Eros", "protein_names_uniprotkb": "Cytochrome b-245 chaperone 1; Eros; Essential for reactive oxygen species protein", "protein_names_refseq": "cytochrome b-245 chaperone 1 isoform a; essential for reactive oxygen species protein; uncharacterized protein C17orf62", "tax_id": 9606, "disease": "autosomal recessive chronic granulomatous disease 5 (Disease Ontology:DOID:0070368)", "pathway": " (hsa:79415)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;17081983;20112406;23481700;25502872;25576301;26811146;26992070;27920218;28063628;28351984;28600779;28832583;28834231;28904123;29242379;29393594;29632046;30312704;30361506;30429286;31154438;31844290;31848261;31862710;32157095;32350084;32357974;32387766;32488085;32983136;33141586;33298915;33592498;33936100;33968037;34171305;34211107;34280579;34509645;34932366;35051231;35580925", "class_list": "", "function": "CYBC1 deficiency results in chronic granulomatous disease characterized by colitis and a distinct profile of infections indicative of macrophage dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a chaperone necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer (PubMed:30361506). Controls the phagocyte respiratory burst and is essential for innate immunity (By similarity)., [UniProtKB, PubMed, UniProtKB]; HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function., [RefSeq, PubMed]; These results indicated that Eros acts as a chaperone not only for NADPH oxidase, but also for P2X7, and contributes to the innate immune reaction, [RefSeq, PubMed]; This study shows that the function of EROS is fully conserved between human and mouse, and that homozygous mutations in EROS underlie a novel sixth cause of chronic granulomatous disease, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1B6X3;Q96NR1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045087 innate immune response;GO:0045728 respiratory burst after phagocytosis", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9BQA9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWE4-1", "uniprot_id": [ { "id": "DCNL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWE4", "type": "external" } ], "mass": 34291.0, "length": 304, "protein_name": "DCN1-like protein 3", "gene_name": "DCUN1D3", "organism": "Human", "refseq_name": "DCN1-like protein 3", "refseq_ac": [ { "id": "NP_775746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775746", "type": "external" } ], "gene_names_uniprotkb": "DCUN1D3; SCCRO3", "gene_names_refseq": "44M2.4; DCNL3; DCUN1D3; SCCRO3", "protein_names_uniprotkb": "DCN1-like protein 3; DCNL3; DCUN1 domain-containing protein 3; Defective in cullin neddylation protein 1-like protein 3; Squamous cell carcinoma-related oncogene 3", "protein_names_refseq": "DCN1, defective in cullin neddylation 1, domain containing 3; DCN1-like protein 3; DCUN1 domain-containing protein 3; defective in cullin neddylation protein 1-like protein 3; squamous cell carcinoma-related oncogene 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:123879); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16533400;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18823379;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27542266;27565346;28115426;29153394;30610225;30833945;32005965;32157095;32284348;32488085;33444648;34171305;35051231;36656536;9790970;9887101;9891082", "class_list": "", "function": "Bladder Cancer Progression Is Suppressed Through the Heart and Neural Crest Derivatives Expressed 2-Antisense RNA 1/microRNA-93-5p/Defective in Cullin Neddylation 1 Domain Containing 3 Axis. Erratum:[Appl Biochem Biotechnol. 2023 Dec;195(12):7898-7899. doi: 10.1007/s12010-023-04478-x. PMID: 37052864], [RefSeq, PubMed]; Contributes to the neddylation of all cullins by transferring NEDD8 from N-terminally acetylated NEDD8-conjugating E2s enzyme to different cullin C-terminal domain-RBX complexes and may play a role in the cell cycle progression by regulating the SCF ubiquitin E3 ligase complex, after UV damage (PubMed:18823379, PubMed:19617556, PubMed:23201271, PubMed:27542266). At the cell membrane, can promote and as well inhibit cullins neddylation (PubMed:19617556, PubMed:25349211, PubMed:26906416)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DCUN1D3 has a role in activating SCFSKP2 ubiquitin E3 ligase activity through cullin-1 neddylation and cell cycle progression in tumor cells with UV damage, [RefSeq, PubMed]; DCUN1D3 is a novel UVC-response gene involved in cell cycle regulation and cell survival., [RefSeq, PubMed]; SCCRO3 functions as a tumor suppressor by antagonizing the neddylation activity of SCCRO, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVY4", "ec_number_list": [], "go_molecular_function": "GO:0032182 ubiquitin-like protein binding;GO:0097602 cullin family protein binding;GO:0031624 ubiquitin conjugating enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0010332 response to gamma radiation;GO:0043065 positive regulation of apoptotic process;GO:0030308 negative regulation of cell growth;GO:2000134 negative regulation of G1/S transition of mitotic cell cycle;GO:2000435 negative regulation of protein neddylation", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q8IWE4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16520-1", "uniprot_id": [ { "id": "GBB3_HUMAN", "url": "https://www.uniprot.org/uniprot/P16520", "type": "external" } ], "mass": 37221.0, "length": 340, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3", "gene_name": "GNB3", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform 2", "refseq_ac": [ { "id": "NP_001284500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284500", "type": "external" } ], "gene_names_uniprotkb": "GNB3", "gene_names_refseq": "CSNB1H; GNB3; HG2D", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3; Transducin beta chain 3", "protein_names_refseq": "G protein, beta-3 subunit; GTP-binding regulatory protein beta-3 chain; guanine nucleotide binding protein (G protein), beta polypeptide 3; guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3; guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform 2; heterotrimeric guanine nucleotide-binding protein 2D; hypertension associated protein; transducin beta chain 3", "tax_id": 9606, "disease": "congenital stationary night blindness 1H (Disease Ontology:DOID:0110866); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); familial hyperlipidemia (Disease Ontology:DOID:1168); depressive disorder (Disease Ontology:DOID:1596); carotid artery disease (Disease Ontology:DOID:3407); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2784); (R-HSA-1296041); (R-HSA-163359); (R-HSA-202040); (R-HSA-381676); (R-HSA-381771); (R-HSA-392170); (R-HSA-392451); (R-HSA-392851); (R-HSA-400042); (R-HSA-4086398); (R-HSA-416476); (R-HSA-416482); (R-HSA-418217); (R-HSA-418555); (R-HSA-418592); (R-HSA-418594); (R-HSA-418597); (R-HSA-420092); (R-HSA-428930); (R-HSA-432040); (R-HSA-456926); (R-HSA-500657); (R-HSA-6814122); (R-HSA-8964315); (R-HSA-8964616); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9717207); (R-HSA-9856530); (R-HSA-997272)", "pathway_count": 32, "publication_count": 541, "publication_id_list": 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"class_list": "", "function": "Association of GNB3, ACE polymorphisms with POAG and NTG., [RefSeq, PubMed]; Association of miRNA targetome variants in LAMC1 and GNB3 genes with colorectal cancer and obesity., [RefSeq, PubMed]; Characterization of the splice variant Gbeta3v., [RefSeq, PubMed]; Endothelium function biomarkers and carotid intima-media thickness changes in relation to NOS3 (rs2070744) and GNB3 (rs5443) genes polymorphism in the essential arterial hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; G Protein Subunit Beta 3 (GNB3) Variant Is Associated with Biochemical Changes in Brazilian Patients with Hypertension., [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction., [UniProtKB, UniProtKB, UniProtKB]; Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96B71;Q9BQC0", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0030507 spectrin binding;GO:0051020 GTPase binding;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0090181 regulation of cholesterol metabolic process;GO:0008217 regulation of blood pressure;GO:0010906 regulation of glucose metabolic process;GO:0006884 cell volume homeostasis", "synthesized_glycan_count": 0, "hit_score": 54.2, "record_id": "P16520-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43474-3", "uniprot_id": [ { "id": "KLF4_HUMAN", "url": "https://www.uniprot.org/uniprot/O43474", "type": "external" } ], "mass": 54671.0, "length": 513, "protein_name": "Krueppel-like factor 4", "gene_name": "KLF4", "organism": "Human", "refseq_name": "Krueppel-like factor 4 isoform 1", "refseq_ac": [ { "id": "NP_001300981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300981", "type": "external" } ], "gene_names_uniprotkb": "KLF4; EZF; GKLF", "gene_names_refseq": "EZF; GKLF; KLF4", "protein_names_uniprotkb": "Krueppel-like factor 4; Epithelial zinc finger protein EZF; Gut-enriched krueppel-like factor", "protein_names_refseq": "Krueppel-like factor 4 isoform 1; Kruppel like factor 4; Kruppel-like factor 4 (gut); endothelial Kruppel-like zinc finger protein; epithelial zinc finger protein EZF; gut Kruppel-like factor; gut-enriched krueppel-like factor; krueppel-like factor 4", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:9314); (R-HSA-381340); (R-HSA-422085); (R-HSA-452723); (R-HSA-9617828); (R-HSA-9764790)", "pathway_count": 6, "publication_count": 154, "publication_id_list": "10075656;10392904;10425206;10604470;11089560;11095972;11600536;11756331;11872672;11884591;11964479;12050285;12213831;12354137;12414809;12553549;12787505;12829629;14599721;14688391;15084259;15108323;15126574;15142980;15256494;15273253;15277698;15342930;15458387;15493035;15513931;15561714;15582778;15604212;15625129;15695770;15743839;15850785;15860457;15919796;15983365;15988017;16153702;16380219;16978057;17011499;17068183;17204602;17267691;17289852;17308127;17467953;17506876;17567999;17572666;17595255;17628018;17980149;18029452;18035408;18212089;18396350;18443287;18444242;18655026;18824471;18931025;19043829;19115207;19151334;19172745;19280057;19327128;19489980;19522013;19604364;19628676;19688839;19755485;19829295;19966271;20027182;20068231;20071344;20101261;20505756;20505821;20837710;20953172;21630377;21654807;21746878;21924763;22210884;22215994;22327294;22988117;23134681;23178592;23239344;23580232;23827706;23827708;23918930;24047697;25116380;25576301;25843800;26154972;29237092;29242379;29493099;29526737;29557506;29593216;29786170;29789417;30206221;30429286;30542730;31154438;31281496;31375868;31844290;31848261;31957176;32157095;32983136;33214551;33968037;34171305;35051231;35580925;36241641;36284347;36420658;39000273;39134187;39185902;39390495;40596516;8325954;8643605;8702718;8706692;8770873;8970730;9000051;9065481;9218496;9422764;9428642;9454824;9836620", "class_list": "", "function": "A longer isoform of gut-enriched Kruppel-like factor 4 (GKLF) we term GKLFa interacts with the CD11d promoter, [RefSeq, PubMed]; A review of KLF4 and inflammatory disease: Current status and future perspective. Review article, [RefSeq, PubMed]; KLF4 Suppresses the Progression of Hepatocellular Carcinoma by Reducing Tumor ATP Synthesis through Targeting the Mir-206/RICTOR Axis. Publication Status: Online-Only, [RefSeq, PubMed]; KLF4 regulates trophoblast function and associates with unexplained recurrent spontaneous abortion. Publication Status: Online-Only, [RefSeq, PubMed]; KLF4-induced upregulation of SOCS1 ameliorates myocardial ischemia/reperfusion injury by attenuating AC16 cardiomyocyte damage and enhancing M2 macrophage polarization., [RefSeq, PubMed]; This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]., [RefSeq]; This is the first paper that describes the identification and characterization of KLF4 (also called GKLF) and that KLF4 is inhibitor of cell growth., [RefSeq, PubMed]; This paper describes that the nuclear localization signals within KLF4 define a closely related subfamily of Kruppel-like factors including KLF1, KLF2 and KLF4., [RefSeq, PubMed]; This study examines the expression of KLF4 during embryonic and postnatal development and in intestinal tumorigenesis., [RefSeq, PubMed]; Transcription factor; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining embryonic stem cells, and in preventing their differentiation. Required for establishing the barrier function of the skin and for postnatal maturation and maintenance of the ocular surface. Involved in the differentiation of epithelial cells and may also function in skeletal and kidney development. Contributes to the down-regulation of p53/TP53 transcription., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R8S4;B3KT79;L0R3I6;L0R4N5;P78338;Q5T3J8;Q5T3J9;Q8N717;Q9UNP3", "ec_number_list": [], "go_molecular_function": "GO:0001010 RNA polymerase II sequence-specific DNA-binding transcription factor recruiting activity;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042826 histone deacetylase binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:1903672 positive regulation of sprouting angiogenesis;GO:0014740 negative regulation of muscle hyperplasia;GO:1904998 negative regulation of leukocyte adhesion to arterial endothelial cell;GO:2000342 negative regulation of chemokine (C-X-C motif) ligand 2 production;GO:1990859 cellular response to endothelin", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "O43474-3", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYR9-1", "uniprot_id": [ { "id": "KRA24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYR9", "type": "external" } ], "mass": 13480.0, "length": 128, "protein_name": "Keratin-associated protein 2-4", "gene_name": "KRTAP2-4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "KRTAP2-4; KAP2.4; KRTAP2.4", "gene_names_refseq": "", "protein_names_uniprotkb": "Keratin-associated protein 2-4; High sulfur keratin-associated protein 2.4; Keratin-associated protein 2.4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:730755); (hsa:85294); (R-HSA-6805567)", "pathway_count": 3, "publication_count": 11, "publication_id_list": "11279113;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q495J2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BYR9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3C6-1", "uniprot_id": [ { "id": "PPIL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3C6", "type": "external" } ], "mass": 18237.0, "length": 166, "protein_name": "Peptidyl-prolyl cis-trans isomerase-like 1", "gene_name": "PPIL1", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase-like 1", "refseq_ac": [ { "id": "NP_057143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057143", "type": "external" } ], "gene_names_uniprotkb": "PPIL1; CGI-124; CYPL1; PRO4984", "gene_names_refseq": "CGI-124; CYPL1; PCH14; PPIL1; PPIase; hCyPX", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase-like 1; 5.2.1.8; PPIase; Rotamase PPIL1", "protein_names_refseq": "cyclophilin like 1; cyclophilin-related gene 1; peptidyl-prolyl cis-trans isomerase-like 1; peptidyl-prolyl cis-trans isomerase; peptidylprolyl isomerase (cyclophilin)-like 1; rotamase PPIL1", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 14 (Disease Ontology:DOID:0112325); microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:51645); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10882114;11014198;11101529;11233976;11747608;11991638;12176931;12411573;12414731;12477934;12975309;14519844;14625303;14713954;14762106;15084397;16314458;16595688;16809785;17095540;17332742;17606899;18077418;18322460;18593880;19103666;19165350;19536130;20068231;20368803;20423332;20980672;21536652;2176635;21911577;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;24196718;24304693;24448447;24737827;24914973;25555158;2558966;26092250;26385511;26420826;26969736;27108190;27377154;27459055;27683217;28062851;28076346;28502770;28510447;28781166;29242379;29301961;29360106;29361316;29393594;29485866;2963332;29786170;29902443;30315277;30599162;30705154;30728453;30765414;30975767;31409651;31530632;31844290;32179686;32329775;32350084;32357974;32494006;32938616;33177556;33220177;33243851;33446560;33537174;33592498;33968037;34019948;34301950;34357683;34561969;34822310;35051231;35215846;35251023;35385551;36241641;3757028;8566756;8608946;8978786;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:33220177). PPIases accelerate the folding of proteins. Catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (PubMed:16595688). Catalyzes prolyl peptide bond isomerization in CDC40/PRP17 (PubMed:33220177). Plays an important role in embryonic brain development; this function is independent of its isomerase activity (PubMed:33220177)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O15001;Q5TDC9", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" } ], "go_molecular_function": "GO:0097718 disordered domain specific binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0071013 catalytic step 2 spliceosome;GO:0071007 U2-type catalytic step 2 spliceosome", "go_biological_process": "GO:0006457 protein folding;GO:0000398 mRNA splicing, via spliceosome;GO:1990403 embryonic brain development;GO:0000413 protein peptidyl-prolyl isomerization", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q9Y3C6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0M0-1", "uniprot_id": [ { "id": "WWP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0M0", "type": "external" } ], "mass": 105202.0, "length": 922, "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP1", "gene_name": "WWP1", "organism": "Human", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP1", "refseq_ac": [ { "id": "NP_008944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008944", "type": "external" } ], "gene_names_uniprotkb": "WWP1", "gene_names_refseq": "AIP5; Tiul1; WWP1; hSDRP1", "protein_names_uniprotkb": "NEDD4-like E3 ubiquitin-protein ligase WWP1; 2.3.2.26; AIP5; Atrophin-1-interacting protein 5; HECT-type E3 ubiquitin transferase WWP1; TGIF-interacting ubiquitin ligase 1; Tiul1; WW domain-containing protein 1", "protein_names_refseq": "HECT-type E3 ubiquitin transferase WWP1; NEDD4-like E3 ubiquitin-protein ligase WWP1; Nedd-4-like ubiquitin-protein ligase; TGIF-interacting ubiquitin ligase 1; WW domain-containing protein 1; atrophin-1 interacting protein 5", "tax_id": 9606, "disease": "Liddle syndrome (Disease Ontology:DOID:0050477)", "pathway": " (hsa:11059); (R-HSA-1253288); (R-HSA-2672351); (R-HSA-8939902); (R-HSA-983168)", "pathway_count": 5, "publication_count": 183, "publication_id_list": "10215629;10564087;10572046;10642508;10720933;10767424;10830164;10831588;10911365;11062501;11182090;11230166;11237011;11350924;11588175;11687798;11734858;11779188;11842292;11904445;11956057;12000792;12393854;12450395;12535537;12646216;12738770;12907679;12923053;1379744;14584882;14634667;14734113;15010458;15044642;15147738;15221015;15224091;15224092;15318163;15359284;15504734;15505377;15571818;15703179;15916532;15919655;16115867;16219661;16421188;16595681;16728642;16813530;16849430;16849449;16850186;16954532;17081983;17381423;17448995;17463226;17609263;17699613;17786208;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18510355;18541707;18662336;18662542;18724360;18724389;19028597;19047365;19153159;19193720;19307298;19343052;19352404;19380724;19387438;19452197;19489725;19561640;19580544;19620632;19808995;19851334;19874575;19940261;19953639;20068231;20388639;20466723;20525693;20538786;21040849;21191027;21527911;21931630;21984732;22002868;22422618;2261476;22773952;22946059;2298749;23112050;2321095;23230144;23403054;23616951;23943595;25260729;2536303;25576301;26091038;26359375;26562072;26778333;28071645;28154142;28514659;28649982;28790369;28832583;28855257;28904123;29242379;29314611;29331515;29393594;29557506;29632046;29632711;30429286;31092671;31154438;31217245;31844290;32157095;32161166;32350084;32983136;33592498;33691108;33936100;33968037;34087483;34357683;34404733;34433824;35051231;35154481;35580925;36010968;39059493;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9169421;9380723;9395096;9571199;9647693;9662395;9668046;9700209;9719863;9744806", "class_list": "", "function": "Alpha-Catulin promotes cancer stemness by antagonizing WWP1-mediated KLF5 degradation in lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CYYR1 promotes the degradation of the E3 ubiquitin ligase WWP1 and is associated with favorable prognosis in breast cancer., [RefSeq, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates ERBB4 isoforms JM-A CYT-1 and JM-B CYT-1, KLF2, KLF5 and TP63 and promotes their proteasomal degradation. Ubiquitinates RNF11 without targeting it for degradation. Ubiquitinates and promotes degradation of TGFBR1; the ubiquitination is enhanced by SMAD7. Ubiquitinates SMAD6 and SMAD7. Ubiquitinates and promotes degradation of SMAD2 in response to TGF-beta signaling, which requires interaction with TGIF. Activates the Hippo signaling pathway in response to cell contact inhibition and recruitment to the Crumbs complex at the cell membrane (PubMed:34404733). Monoubiquitinates AMOTL2 which facilitates its interaction with and activation of LATS2 (PubMed:34404733). LATS2 then phosphorylates YAP1, excluding it from the nucleus and therefore ultimately represses YAP1-driven transcription of target genes (PubMed:34404733)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00307;Q5YLC1;Q96BP4", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:0045892 negative regulation of DNA-templated transcription;GO:0007417 central nervous system development;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q9H0M0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57076-1", "uniprot_id": [ { "id": "CF298_HUMAN", "url": "https://www.uniprot.org/uniprot/P57076", "type": "external" } ], "mass": 33224.0, "length": 290, "protein_name": "Cilia- and flagella-associated protein 298", "gene_name": "CFAP298", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 298 isoform 1", "refseq_ac": [ { "id": "NP_067077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067077", "type": "external" } ], "gene_names_uniprotkb": "CFAP298; C21orf48; C21orf59", "gene_names_refseq": "C21orf48; C21orf59; CFAP298; CILD26; DNAAF16; FBB18; Kur", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 298; Protein kurly homolog", "protein_names_refseq": "UPF0769 protein C21orf59; cilia- and flagella-associated protein 298 isoform 1; dynein axonemal assembly factor 16; kurly homolog; prostate cancer upregulated protein 1; protein kurly homolog", "tax_id": 9606, "disease": "primary ciliary dyskinesia 26 (Disease Ontology:DOID:0110627)", "pathway": " (hsa:56683)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "11237011;15592455;21872626;21993680;22645359;23481700;24094744;24714562;24715725;25576301;25645385;25880248;26154972;26375851;26758079;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29601588;29632711;29786170;30315122;30410026;30484775;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34357683;34509645;34932366;35051231;35251023;35318648;35580925;36010968;36241641;36284347", "class_list": "", "function": "Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly (PubMed:24094744). Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53FH0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0060271 cilium assembly;GO:0003352 regulation of cilium movement", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P57076-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53GD3-1", "uniprot_id": [ { "id": "CTL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53GD3", "type": "external" } ], "mass": 79254.0, "length": 710, "protein_name": "Choline transporter-like protein 4", "gene_name": "SLC44A4", "organism": "Human", "refseq_name": "choline transporter-like protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001171515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171515", "type": "external" } ], "gene_names_uniprotkb": "SLC44A4; C6orf29; CTL4; NG22; PRO874; TPPT1", "gene_names_refseq": "C6orf29; CTL4; DFNA72; NG22; SLC44A4; TPPT; hTPPT1", "protein_names_uniprotkb": "Choline transporter-like protein 4; Solute carrier family 44 member 4; Thiamine pyrophosphate transporter 1; hTPPT1", "protein_names_refseq": "choline transporter-like protein 4 isoform 2; choline transporter-like protein 4; testicular tissue protein Li 48; thiamine pyrophosphate transporter 1", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 72 (Disease Ontology:DOID:0080268); sensorineural hearing loss (Disease Ontology:DOID:10003)", "pathway": " (hsa:80736); (R-HSA-1483191); (R-HSA-9958517)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "10100195;10191259;10677542;10893425;11068039;11237011;11420179;11698453;12055623;12067718;12216837;12221122;12975309;14656967;14973250;15175005;15715662;15911624;16959974;17007874;17158099;17491011;17561512;18694939;19915674;20338778;21926997;23090970;23328280;23651124;23901139;24190977;24379411;24732803;24828044;26005868;26048993;26741288;26828122;26901654;26945070;27759029;28013291;28753073;28821867;29557506;29741879;29769354;29789417;3057511;31844290;31848261;32157095;34185709;35051231;36284347;37074911;38713615;9593753", "class_list": "", "function": "Also has thiamine pyrophosphate transporter activity., [UniProtKB, PubMed]; Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity) (PubMed:23651124, PubMed:28013291). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis (PubMed:24379411, PubMed:26741288)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Effect of knocking out mouse Slc44a4 on colonic uptake of the microbiota-generated thiamine pyrophosphate and colon physiology., [RefSeq, PubMed]; Epigenetic mechanisms (histone modifications) play a role in determining the tissue-specific pattern of expression of the TPPT along the GI tract. Erratum:[PLoS One. 2017 Oct 11;12(10):e0186550. doi: 10.1371/journal.pone.0186550. PMID: 29020075] Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]., [RefSeq]; These results suggest (i) apparent allelic heterogeneity in CFB and genetic heterogeneity in SLC44A4 across different ethnic groups; (ii) shared ulcerative colitis genetic etiological factors among Asians, [RefSeq, PubMed]; We found that rs2736428 was significantly associated with UC risk (allelic p = 0.0004), and the CT and TT genotypes of rs2736428 had a higher distribution compared with the CC genotypes (genotypic p = 0.001), suggesting that the T allele was a risk allele (odds ratio = 1.45, 95% confidence interval = 1.18-1.78). Moreover, one haplotype block that included rs2736428 was found to be strongly associated with UC risk as well, [RefSeq, PubMed]; Whole-exome sequencing revealed SLC44A4, which encodes the choline transport protein, as the pathogenic gene in this family. In the zebrafish model, downregulation of slc44a4 using morpholinos led to significant abnormalities in the zebrafish inner ear and lateral line neuromasts and contributed, to some extent, to disabilities in hearing and balance. Erratum:[Hum Mol Genet. 2017 Aug 15;26(16):3234. doi: 10.1093/hmg/ddx232. PMID: 28859437], [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 5, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 9, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A2BED3;B0UXX8;B0UZY8;B4DU94;B4DWM2;E9PEK7;Q5JP84;Q5JQ93;Q658S8;Q6UX89;Q8TEW4;Q96C58;Q96K59;Q9Y332", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0015220 choline transmembrane transporter activity;GO:0090422 thiamine pyrophosphate transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0030307 positive regulation of cell growth;GO:0015721 bile acid and bile salt transport;GO:0006656 phosphatidylcholine biosynthetic process;GO:0008292 acetylcholine biosynthetic process;GO:0015871 choline transport", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q53GD3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SY80-1", "uniprot_id": [ { "id": "CTSRE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SY80", "type": "external" } ], "mass": 109662.0, "length": 951, "protein_name": "Cation channel sperm-associated auxiliary subunit epsilon", "gene_name": "CATSPERE", "organism": "Human", "refseq_name": "cation channel sperm-associated auxiliary subunit epsilon isoform 1 precursor", "refseq_ac": [ { "id": "NP_001124429", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124429", "type": "external" } ], "gene_names_uniprotkb": "CATSPERE; C1orf101", "gene_names_refseq": "C10orf101; C1orf101; CATSPERE", "protein_names_uniprotkb": "Cation channel sperm-associated auxiliary subunit epsilon; CatSper-epsilon; CatSperepsilon", "protein_names_refseq": "catSper-epsilon; catSperepsilon; cation channel sperm-associated auxiliary subunit epsilon isoform 1 precursor; cation channel sperm-associated auxiliary subunit epsilon; cation channel sperm-associated protein subunit epsilon; uncharacterized protein C1orf101", "tax_id": 9606, "disease": "", "pathway": " (hsa:257044)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;16959974;30379171", "class_list": "", "function": "Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization., [UniProtKB, UniProtKB]", "predicted_glycosites": 11, "predicted_n_glycosites": 11, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B4DZR4;B7Z7X5;E9PEA3;Q8IYZ6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097229 sperm end piece;GO:0036128 CatSper complex;GO:0097228 sperm principal piece;GO:0097225 sperm midpiece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5SY80-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PZ7-1", "uniprot_id": [ { "id": "CSMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PZ7", "type": "external" } ], "mass": 388736.0, "length": 3564, "protein_name": "CUB and sushi domain-containing protein 1", "gene_name": "CSMD1", "organism": "Human", "refseq_name": "CUB and sushi domain-containing protein 1 precursor", "refseq_ac": [ { "id": "NP_150094", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150094", "type": "external" } ], "gene_names_uniprotkb": "CSMD1; KIAA1890; PRO19863", "gene_names_refseq": "CSMD1; PPP1R24", "protein_names_uniprotkb": "CUB and sushi domain-containing protein 1; CUB and sushi multiple domains protein 1", "protein_names_refseq": "CUB and sushi domain-containing protein 1 precursor; CUB and sushi domain-containing protein 1; protein phosphatase 1, regulatory subunit 24", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:64478)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;11472063;12696061;12874026;12906867;12975309;14506705;16751668;25576301;25645385;25892735;26566883;26992070;28832583;29242379;29557506;29769354;29786170;30484775;31217245;32157095;32387766;32938616;34087483;35051231;36241641;36553598;37748985;38552925;38561856;38816421", "class_list": "", "function": "Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations. Publication Status: Online-Only, [RefSeq, PubMed]; CSMD1 is a member of a suite of genes whose downregulation is predictive of prostate cancer relapse, [RefSeq, PubMed]; CSMD1 protein domain structure and the sequence of the cytoplasmic tail are highly conserved between mammals and fish, [RefSeq, PubMed]; CSMD1 regulates brain complement activity and circuit development., [RefSeq, PubMed]; CSMD1 rs10503253 increases schizophrenia risk in a Tunisian population-group., [RefSeq, PubMed]; Potential suppressor of squamous cell carcinomas., [UniProtKB]; Previously reported apparent homozygous deletions wholly contained within CSMD1 introns are a PCR artifact caused by SNPs within the primer sequences. The allele remaining after LOH can't be amplified by these primers., [RefSeq, PubMed]; Simple inactivation of CSMD1 may not explain the deletions observed in oropharyngeal squamous cell carcinoma and may call into question the role of this gene in head and neck carcinogenesis., [RefSeq, PubMed]; The Diverse Role of CUB and Sushi Multiple Domains 1 (CSMD1) in Human Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Tumor suppressor role of the complement inhibitor CSMD1 and its role in TNF-induced neuroinflammation in gliomas. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 41, "predicted_n_glycosites": 40, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 366, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 41, "binding_glycan_count": 0, "secondary_ac_list": "A0A0U1RQY1;Q0H0J5;Q96QU9;Q96RM4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q96PZ7-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z407-1", "uniprot_id": [ { "id": "CSMD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z407", "type": "external" } ], "mass": 406000.0, "length": 3707, "protein_name": "CUB and sushi domain-containing protein 3", "gene_name": "CSMD3", "organism": "Human", "refseq_name": "CUB and sushi domain-containing protein 3 isoform 3", "refseq_ac": [ { "id": "NP_443132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443132", "type": "external" } ], "gene_names_uniprotkb": "CSMD3; KIAA1894", "gene_names_refseq": "CSMD3", "protein_names_uniprotkb": "CUB and sushi domain-containing protein 3; CUB and sushi multiple domains protein 3", "protein_names_refseq": "CUB and sushi domain-containing protein 3 isoform 3; CUB and sushi domain-containing protein 3; CUB and sushi multiple domains protein 3", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:114788)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12906867;12943675;15523607;16959974;18270536;19528667;21248752;21351276;25645385;25892735;29393594;29557506;29769354;29786170;31154438;32157095;32387766;35051231;37217939;38253038", "class_list": "", "function": "Breakpoints on chromosomes 8 in both patients do not interrupt any known gene but both map in a region containing the CSMD3 gene, which thereby can be considered as a candidate for autistic spectrum disorders, [RefSeq, PubMed]; CSMD3 encodes a protein with CUB and sushi multiple domains and is a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1, [RefSeq, PubMed]; CSMD3 is deleted in a subject with combined tricho-rhino-phalangeal syndrome II with mental retardation and growth hormone deficiency., [RefSeq, PubMed]; CSMD3 protein domain structure and the sequence of the cytoplasmic tail are highly conserved between mammals and fish., [RefSeq, PubMed]; Involved in dendrite development., [UniProtKB, UniProtKB]; Nonsynonymous variants of CSMD3 is associated with familial colorectal cancer., [RefSeq, PubMed]; Single-nucleotide polymorphisms in CSMD3 is associated with prostate cancer risk in hispanic men., [RefSeq, PubMed]", "predicted_glycosites": 45, "predicted_n_glycosites": 41, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 654, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 48, "binding_glycan_count": 0, "secondary_ac_list": "Q96PZ3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050773 regulation of dendrite development", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q7Z407-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04899-1", "uniprot_id": [ { "id": "GNAI2_HUMAN", "url": "https://www.uniprot.org/uniprot/P04899", "type": "external" } ], "mass": 40451.0, "length": 355, "protein_name": "Guanine nucleotide-binding protein G(i) subunit alpha-2", "gene_name": "GNAI2", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(i) subunit alpha-2 isoform 2", "refseq_ac": [ { "id": "NP_001159897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159897", "type": "external" } ], "gene_names_uniprotkb": "GNAI2; GNAI2B", "gene_names_refseq": "GIP; GNAI2B; GNAI2; HG1C; H_LUCA15.1; H_LUCA16.1", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(i) subunit alpha-2; 3.6.5.-; Adenylate cyclase-inhibiting G alpha protein", "protein_names_refseq": "GTP-binding regulatory protein Gi alpha-2 chain; adenylate cyclase-inhibiting G alpha protein; guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2; guanine nucleotide-binding protein G(i) subunit alpha-2 isoform 2; guanine nucleotide-binding protein G(i) subunit alpha-2; guanine nucleotide-binding protein G(i), alpha-2 subunit; heterotrimeric guanine nucleotide-binding protein 1C", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); inflammatory bowel disease 12 (Disease Ontology:DOID:0110887); hypertension (Disease Ontology:DOID:10763); McCune Albright syndrome (Disease Ontology:DOID:1858)", "pathway": " (hsa:2771); (R-HSA-170670); (R-HSA-392170); (R-HSA-400042); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-422356); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821)", "pathway_count": 11, "publication_count": 363, "publication_id_list": "10194514;10206966;10319328;10342826;10424882;10427092;10449730;10496952;10526167;10714768;10749889;10773014;10806474;10866047;10868950;10948191;10954748;11007482;11029009;11029403;11043579;11044445;11078440;11078469;11185956;11196645;11237011;11264248;11313909;11369763;11577798;11689445;11716850;11773440;11773442;11773443;11780755;11815450;11815460;11815462;11815463;11825873;11873862;11981029;12036966;12048194;12058044;12106601;12120503;12180353;12196472;12359238;12388769;12403834;12421825;12431978;12475777;12511868;12560222;12588983;12682286;12684222;12764427;12808053;12860470;12881510;12887316;1309948;1325798;13459201;1347957;13549488;1378832;14514350;14573771;14671004;14675202;14764897;15000528;15033483;15044318;15090535;1517224;15231873;15245432;15305887;15314172;15467163;15496458;15504896;15539556;15569929;15572341;15585596;15657067;15678092;15705661;15705806;15765929;15769620;15951850;15956360;16239258;16274718;16313925;16332676;16352729;16371464;16373322;16443778;1645720;16513675;16556766;1658606;16634148;16636149;16645038;16687412;16714477;16835357;16868246;16923326;17021801;17037979;17095603;17168849;17230639;17259518;17379646;17380317;17424910;17525128;17535799;17550964;17635935;17660294;17900700;17916740;17919183;17921256;18044684;18083107;18162464;18206197;18346985;18434541;1849000;18566127;18577758;18596924;18657504;19105585;19138696;19211784;19258039;19342448;1939224;19587354;19741198;19876791;19879889;19929708;19931550;20086079;20381629;20439495;20650261;20861220;21036126;2163110;21680538;21844907;21851428;22028449;22031296;22223895;22266855;22446104;22495674;22869377;23992284;24039841;24141704;2417744;24273487;24530924;24687066;24715725;2491850;24962572;25255805;2534964;25367160;25502872;2553411;2553705;25576301;25587652;25807930;25880248;26126266;26154972;26190834;26375851;26417854;26517901;26987903;26992070;27288742;27392633;27452731;2748346;27846572;27920218;28219978;28228285;2834384;2837412;28450397;28502923;28539435;28595943;2871555;28832583;28834231;28904123;29108130;29242379;29331515;29351928;29443750;29493099;29508533;29557506;29602314;29738483;29786170;29925945;30315122;30429286;30524438;30779550;30833991;3100330;31067468;3120178;3127824;31279028;31399091;31844290;31848261;31983287;32157095;32226383;32350084;32357974;32387766;32488085;32497535;32540603;32618402;32715661;32897882;32938616;32983136;33043033;33049737;33141586;33214551;33298915;33392160;33537174;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34433824;34509645;34561969;34725712;35051231;35115535;35132862;35154160;3517644;35251023;35318648;35365641;35580925;35637350;36010968;36241641;36284347;37938771;38153649;38505600;38665916;3923453;39302247;40596516;40914422;6019353;6085243;6424440;6435940;7526779;7559455;7568118;7589840;7593639;7595566;7641683;7651538;7750475;7929812;7937899;8007951;8015379;8027028;8099279;8119955;8277227;8327893;8340388;8406495;8457197;8514797;8522976;8527267;8554519;8598224;8662698;8662784;8672451;8675920;8702633;8778232;8782602;8876252;8987985;8997178;9173876;9263355;9350615;9395517;9417641;9565625;9616126;9651336;9707174;9726229;9739505;9751501;9760042;9865521;9914469;9920805", "class_list": "", "function": "Galphai2-induced conductin/axin2 condensates inhibit Wnt/beta-catenin signaling and suppress cancer growth. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:38505600, PubMed:29925945, PubMed:35637350, PubMed:35365641). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:12359238). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:29925945). Examples of interacting GPCRs include the adenosine A1 receptor/ADORA1, CNR1, and FPR2 (PubMed:29925945, PubMed:35637350, PubMed:35365641). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:12359238). Signaling is mediated via effector proteins, such as adenylate cyclase: inhibits adenylate cyclase activity of ADCY1, ADCY5 and ADCY6, leading to decreased intracellular cAMP levels. Plays an important role in the activation of the transcription factor NFAT in endothelial cells to promote angiogenesis (PubMed:38505600). The G(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta-adrenergic stimuli. Plays an essential role for neutrophil recruitment in the context of acute inflammation suggesting a linked function of both GNAI2 in neutrophils and endothelial cells for polymorphonuclear neutrophils transmigration (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; MiR-30c-5p-Targeted Regulation of GNAI2 Improves Neural Function Injury and Inflammation in Cerebral Ischemia-Reperfusion Injury., [RefSeq, PubMed]; Regulates the cell surface density of dopamine receptors DRD2 by sequestrating them as an intracellular pool., [UniProtKB, PubMed]; The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KTZ0;B4DYA0;B4E2X5;Q6B6N3;Q8IZ71", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "4.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.1", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.7.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.85", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0001664 G protein-coupled receptor binding;GO:0031683 G-protein beta/gamma-subunit complex binding", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 37.1, "record_id": "P04899-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6N9-1", "uniprot_id": [ { "id": "USH1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6N9", "type": "external" } ], "mass": 62211.0, "length": 552, "protein_name": "Harmonin", "gene_name": "USH1C", "organism": "Human", "refseq_name": "harmonin isoform c", "refseq_ac": [ { "id": "NP_001284693", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284693", "type": "external" } ], "gene_names_uniprotkb": "USH1C; AIE75", "gene_names_refseq": "AIE-75; DFNB18A; DFNB18; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73/NY-CO-38; PDZ-73; PDZ73; PDZD7C; USH1C; ush1cpst", "protein_names_uniprotkb": "Harmonin; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; Usher syndrome type-1C protein", "protein_names_refseq": "Usher syndrome 1C (autosomal recessive, severe); antigen NY-CO-38/NY-CO-37; autoimmune enteropathy-related antigen AIE-75; harmonin isoform c; harmonin; renal carcinoma antigen NY-REN-3; usher syndrome type-1C protein", "tax_id": 9606, "disease": "Usher syndrome (Disease Ontology:DOID:0050439); Usher syndrome type 1B (Disease Ontology:DOID:0070655); autosomal recessive nonsyndromic deafness 18A (Disease Ontology:DOID:0110473); Usher syndrome type 1 (Disease Ontology:DOID:0110826); Usher syndrome type 1C (Disease Ontology:DOID:0110830)", "pathway": " (hsa:10083); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10025409;10500064;10508479;10821263;10973247;11163272;11237011;11311560;12107438;12588794;14759258;16301216;16362076;16464467;18991276;19297620;20068231;20142502;21709241;24725409;26812017;26812018;29393594;29557506;29789417;30833945;31154438;31848261;32161166;32209652;32938616;33231815;33298915;34171305;35051231;35997788;36284347;39894887;9610721", "class_list": "", "function": "Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy., [RefSeq, PubMed]; Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss., [RefSeq, PubMed]; This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K423;Q7RTU8;Q96B29;Q9UM04;Q9UM17;Q9UPC3", "ec_number_list": [], "go_molecular_function": "GO:0030507 spectrin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005903 brush border", "go_biological_process": "GO:0042491 inner ear auditory receptor cell differentiation;GO:0030046 parallel actin filament bundle assembly;GO:0042472 inner ear morphogenesis;GO:0000086 G2/M transition of mitotic cell cycle;GO:0051017 actin filament bundle assembly", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9Y6N9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4X4-1", "uniprot_id": [ { "id": "KLF12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4X4", "type": "external" } ], "mass": 44240.0, "length": 402, "protein_name": "Krueppel-like factor 12", "gene_name": "KLF12", "organism": "Human", "refseq_name": "Krueppel-like factor 12 isoform 1", "refseq_ac": [ { "id": "NP_009180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009180", "type": "external" } ], "gene_names_uniprotkb": "KLF12; AP2REP; HSPC122", "gene_names_refseq": "AP-2rep; AP2REP; HSPC122; KLF12", "protein_names_uniprotkb": "Krueppel-like factor 12; Transcriptional repressor AP-2rep", "protein_names_refseq": "AP-2 repressor; AP-2rep transcription factor; KLF12 zinc finger transcriptional repressor; Krueppel-like factor 12 isoform 1; Kruppel like factor 12; krueppel-like factor 12; transcriptional repressor AP-2rep", "tax_id": 9606, "disease": "", "pathway": " (hsa:11278)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;10704285;11433524;18438403;19690332;23134681;23186163;23481700;28832583;29242379;29437277;30429286;30779550;31154438;31375868;31844290;31848261;32157095;32938616;33592498;33968037;34019948;35132862;35138101;35580925;37156774;37290172;37543362;37606530;37698263;38665916;40307207", "class_list": "", "function": "Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Circ_0084188 promotes colorectal cancer progression by sponging miR-654-3p and regulating kruppel-like factor 12., [RefSeq, PubMed]; Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alpha gene promoter., [UniProtKB]; KLF12 promotes the proliferation of breast cancer cells by reducing the transcription of p21 in a p53-dependent and p53-independent manner. Publication Status: Online-Only, [RefSeq, PubMed]; KLF12 transcriptionally regulates PD-L1 expression in non-small cell lung cancer., [RefSeq, PubMed]; Kruppel-like factor 12 regulates aging ovarian granulosa cell apoptosis by repressing SPHK1 transcription and sphingosine-1-phosphate (S1P) production., [RefSeq, PubMed]; MiR-17-5p promoter methylation regulated by DNA methyltransferase 3 beta (DNMT3B) expedites endometriosis via the Kruppel-like factor 12 (KLF12)/Wnt/beta-catenin axis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K5T2;L0R3J4;Q5VZM7;Q9UHZ0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9Y4X4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14780-1", "uniprot_id": [ { "id": "MMP9_HUMAN", "url": "https://www.uniprot.org/uniprot/P14780", "type": "external" } ], "mass": 78458.0, "length": 707, "protein_name": "Matrix metalloproteinase-9", "gene_name": "MMP9", "organism": "Human", "refseq_name": "matrix metalloproteinase-9 preproprotein", "refseq_ac": [ { "id": "NP_004985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004985", "type": "external" } ], "gene_names_uniprotkb": "MMP9; CLG4B", "gene_names_refseq": "CLG4B; GELB; MANDP2; MMP-9; MMP9", "protein_names_uniprotkb": "Matrix metalloproteinase-9; 3.4.24.35; 92 kDa gelatinase; 92 kDa type IV collagenase; GELB; Gelatinase B; MMP-9", "protein_names_refseq": "macrophage gelatinase; matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase); matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase); matrix metalloproteinase-9 preproprotein; type V collagenase", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); sinusitis (Disease Ontology:DOID:0050127); chorioamnionitis (Disease Ontology:DOID:0050697); cardiomyopathy (Disease Ontology:DOID:0050700); primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); rheumatic heart disease (Disease Ontology:DOID:0050827); obstructive sleep apnea (Disease Ontology:DOID:0050848); glomerulosclerosis (Disease Ontology:DOID:0050851); renal fibrosis (Disease Ontology:DOID:0050855); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); stroke (Disease Ontology:DOID:0051061); autism spectrum disorder (Disease Ontology:DOID:0060041); ductal carcinoma in situ (Disease Ontology:DOID:0060074); atrial fibrillation (Disease Ontology:DOID:0060224); thrombosis (Disease Ontology:DOID:0060903); alcohol-associated liver disease (Disease Ontology:DOID:0070658); meningococcal meningitis (Disease Ontology:DOID:0080176); hepatic veno-occlusive disease (Disease Ontology:DOID:0080177); congenital anomalies of the kidney and urinary tract 2 (Disease Ontology:DOID:0080207); polymyositis (Disease Ontology:DOID:0080745); Sweet syndrome (Disease Ontology:DOID:0080746); Sturge-Weber syndrome (Disease Ontology:DOID:0111563); pigmentation disease (Disease Ontology:DOID:10123); dermatomyositis (Disease Ontology:DOID:10223); stomach cancer (Disease Ontology:DOID:10534); adrenoleukodystrophy (Disease Ontology:DOID:10588); pre-eclampsia (Disease Ontology:DOID:10591); pleural tuberculosis (Disease Ontology:DOID:106); Alzheimer's disease (Disease Ontology:DOID:10652); primary open angle glaucoma (Disease Ontology:DOID:1070); renal hypertension (Disease Ontology:DOID:1073); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); intracranial aneurysm (Disease Ontology:DOID:10941); cholesteatoma of middle ear (Disease Ontology:DOID:10964); membranous glomerulonephritis (Disease Ontology:DOID:10976); urinary bladder cancer (Disease Ontology:DOID:11054); arteriovenous malformation (Disease Ontology:DOID:11294); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); osteoporosis (Disease Ontology:DOID:11476); familial hyperlipidemia (Disease Ontology:DOID:1168); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); primary biliary cholangitis (Disease Ontology:DOID:12236); retinal ischemia (Disease Ontology:DOID:12510); Huntington's disease (Disease Ontology:DOID:12858); Sjogren's syndrome (Disease Ontology:DOID:12894); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); crescentic glomerulonephritis (Disease Ontology:DOID:13139); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); Kawasaki disease (Disease Ontology:DOID:13378); tuberous sclerosis (Disease Ontology:DOID:13515); angle-closure glaucoma (Disease Ontology:DOID:13550); exfoliation syndrome (Disease Ontology:DOID:13641); anodontia (Disease Ontology:DOID:13714); familial hypercholesterolemia (Disease Ontology:DOID:13810); thoracic aortic aneurysm (Disease Ontology:DOID:14004); Down syndrome (Disease Ontology:DOID:14250); fragile X syndrome (Disease Ontology:DOID:14261); cystic fibrosis (Disease Ontology:DOID:1485); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); ventricular septal defect (Disease Ontology:DOID:1657); glaucoma (Disease Ontology:DOID:1686); squamous cell carcinoma (Disease Ontology:DOID:1749); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); childhood absence epilepsy (Disease Ontology:DOID:1825); epilepsy (Disease Ontology:DOID:1826); focal epilepsy (Disease Ontology:DOID:2234); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); colon adenocarcinoma (Disease Ontology:DOID:234); arteriosclerosis (Disease Ontology:DOID:2349); multiple sclerosis (Disease Ontology:DOID:2377); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); Takayasu's arteritis (Disease Ontology:DOID:2508); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); endometrial carcinoma (Disease Ontology:DOID:2871); endometriosis (Disease Ontology:DOID:289); allergic contact dermatitis (Disease Ontology:DOID:3042); glioblastoma (Disease Ontology:DOID:3068); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); temporal lobe epilepsy (Disease Ontology:DOID:3328); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); brain infarction (Disease Ontology:DOID:3454); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); heart valve disease (Disease Ontology:DOID:4079); systemic scleroderma (Disease Ontology:DOID:418); hyperglycemia (Disease Ontology:DOID:4195); conjunctivochalasis (Disease Ontology:DOID:4250); macular degeneration (Disease Ontology:DOID:4448); renal cell carcinoma (Disease Ontology:DOID:4450); epidermolysis bullosa simplex (Disease Ontology:DOID:4644); brain edema (Disease Ontology:DOID:4724); esophagus adenocarcinoma (Disease Ontology:DOID:4914); cholangiocarcinoma (Disease Ontology:DOID:4947); chronic inflammatory demyelinating polyradiculoneuropathy (Disease Ontology:DOID:5213); stomach carcinoma (Disease Ontology:DOID:5517); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); viral encephalitis (Disease Ontology:DOID:646); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693); varicose veins (Disease Ontology:DOID:799); osteoarthritis (Disease Ontology:DOID:8398); ileus (Disease Ontology:DOID:8440); lung disease (Disease Ontology:DOID:850); chronic ulcer of skin (Disease Ontology:DOID:8549); pyoderma gangrenosum (Disease Ontology:DOID:8553); cholesteatoma (Disease Ontology:DOID:869); bacterial pneumonia (Disease Ontology:DOID:874); neuromyelitis optica (Disease Ontology:DOID:8869); rosacea (Disease Ontology:DOID:8881); skin melanoma (Disease Ontology:DOID:8923); diabetic retinopathy (Disease Ontology:DOID:8947); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); degenerative disc disease (Disease Ontology:DOID:90); colorectal cancer (Disease Ontology:DOID:9256); ocular hypertension (Disease Ontology:DOID:9282); type 2 diabetes mellitus (Disease Ontology:DOID:9352); bacterial meningitis (Disease Ontology:DOID:9470); pulmonary embolism (Disease Ontology:DOID:9477); bronchiectasis (Disease Ontology:DOID:9563); pulmonary emphysema (Disease Ontology:DOID:9675); obesity (Disease Ontology:DOID:9970); metaphyseal anadysplasia 2 (MONDO:MONDO:0013113)", "pathway": " (hsa:4318); (R-HSA-1433557); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1592389); (R-HSA-2022090); (R-HSA-3928665); (R-HSA-6785807); (R-HSA-6798695); (R-HSA-9009391); (R-HSA-9918481)", "pathway_count": 11, "publication_count": 441, "publication_id_list": "37639587;10023775;10049780;10219247;10229672;10319328;10358045;10369418;10377264;10386589;10397721;10427092;10510379;10523831;10523834;10551873;10586089;10596943;10598806;10644727;10679268;10706100;10749889;10806474;10809722;10867011;10884405;10966814;10986281;11013208;11029009;11029403;11043579;11044445;11058569;11084045;11104795;11119712;11120780;11123894;11179305;11185956;11278437;11278729;11356008;11369763;11375993;11395417;11404481;11448999;11463377;11494148;11520784;11577169;11689445;11707405;11747608;11773442;11773443;11809791;11825873;11830519;11872628;11927537;11960372;11981029;12048194;12051944;12062105;12077439;12126625;12192036;12223527;12242343;12388769;12421825;12431978;12482924;12511868;12579531;12588983;12600988;12660731;12682286;12727852;12808053;1281792;12824176;12832402;12843408;12878163;12879005;12881510;12973357;1311314;1371271;1371879;1375232;1378832;1381360;1390635;1400327;1400481;14519844;14602708;14634100;1464361;14712222;14762106;14764897;1480033;1480034;14973287;15005656;15033483;15044318;15084397;15090535;15116091;15143187;15231873;15234972;15257288;15261459;15265795;15314172;15351694;15467163;15496458;15526160;15569929;15584925;15591058;15657067;15705661;15805299;15837520;15848800;15869882;15950618;15950906;15956360;15958533;16007214;16048438;16061858;16107692;16129412;16133547;16205632;16236134;16239258;16274718;16397018;16451196;1645657;16483568;1649600;16510571;16511561;16512877;1653055;1653238;16540365;16606674;16631740;16636149;16645038;16737840;16825197;16825321;16835357;16873377;1698775;17037979;1704217;1707285;17088321;17137715;1721591;17255936;17332331;17344430;17354228;17424910;17427945;17428795;17458857;17525128;17535799;17572495;17608959;17662946;1783204;17916740;17921256;18206197;18243101;18353781;18434311;18447642;18455130;18622425;18644974;18657504;18658137;18697750;18713744;19010778;19064570;19124156;19132754;19138696;19185846;1932376;19397496;19571574;19615667;19657146;19693541;19714641;19879889;19893577;2005102;20142769;20304997;20354277;20439495;20479083;20493732;20496116;20574775;20650261;20800577;20861220;21030783;21102457;21252155;21297635;21441952;21593211;2159879;21670566;21680538;21689689;2169257;2169335;21730069;2176865;21784848;21851428;21864727;21911577;21935455;21937440;21994466;22028449;22031296;22046235;22159414;22205702;22241472;22266855;22382088;22383755;22446104;2253219;2269296;22693070;22729913;22851691;23035980;2307289;23086340;23124025;23172665;23455323;23555662;23650620;23783831;2383557;23845380;23967200;24039841;24097101;24530924;24743777;24863943;25234944;2537292;25418920;2546891;2548603;2551898;2557753;25587652;25906101;26092250;26207422;27108190;27288742;27536065;27543614;28235803;2834383;2845110;28539435;28904123;29242379;29328525;29329315;29557506;29704617;29738483;29741879;29786170;29789417;29902443;29964125;30315122;3038863;3058116;30599162;31085175;31154438;31848261;32157095;3223920;32883094;32983136;33043033;33177556;33912179;34357683;34742300;35051231;35215846;35580925;37074911;37938771;39169203;39187355;39234629;39259164;39361067;4216367;6258630;6263256;6270089;6694361;7075587;7506952;7509796;7510216;7512451;7523381;7526158;7526779;7529288;7536744;7547873;7669817;7680037;7683678;7746327;7750475;7780967;7795521;7796300;7826345;7890645;7890717;7896811;7898939;7907877;7981201;8015608;8085155;8194591;8207089;8226919;8314771;8426746;8463259;8530478;8576151;8602263;8611693;8621565;8621622;8626565;8636116;8645182;8647802;8663118;8663255;8668165;8692836;8695790;8774734;8782602;8797861;8804434;8816495;8876252;8920930;8950973;8990121;8999957;9008168;9013879;9038210;9045650;9065415;9092507;9111318;9115292;9148753;9173876;9256427;9261109;9346290;9355737;9395517;9422744;9446650;9461298;9565625;9578462;9616126;9632662;9651359;9651395;9723655;9736340;9799234;9822675;9852107;9856810;9872323;9874564", "class_list": "", "function": "Impacts of Matrix Metalloproteinase-9 Promoter Genotypes on Asthma Risk., [RefSeq, PubMed]; Interaction of MMP-9 in the active phase of Graves' disease with and without ophthalmopathy., [RefSeq, PubMed]; JNK2-MMP-9 axis facilitates the progression of intracranial aneurysms. Erratum:[Sci Rep. 2025 Sep 18;15(1):32593. doi: 10.1038/s41598-025-17846-w. PMID: 40968147] Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of PRDX2 Inhibits the Proliferation, Growth, Migration, Invasion, and MMP9 Activity of Ewing's Sarcoma Cells Cultured In Vitro., [RefSeq, PubMed]; Matrix metalloproteinase that plays an essential role in local proteolysis of the extracellular matrix and in leukocyte migration (PubMed:12879005, PubMed:1480034, PubMed:2551898). Could play a role in bone osteoclastic resorption (By similarity). Cleaves KiSS1 at a Gly-|-Leu bond (PubMed:12879005). Cleaves NINJ1 to generate the Secreted ninjurin-1 form (PubMed:32883094). Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments (PubMed:1480034). Degrades fibronectin but not laminin or Pz-peptide., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Preliminary investigation of MMP8 (rs11225395) and MMP9 (rs3787268) polymorphisms association with breast cancer risk in pashtun women of Pakistan. Publication Status: Online-Only, [RefSeq, PubMed]; Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 2, "mined_o_glycosites": 1, "mined_c_glycosites": 1, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 1, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 10, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 40, "disease_count": 140, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2R7V9;Q3LR70;Q8N725;Q9H4Z1;Q9UCJ9;Q9UCL1;Q9UDK2", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.22.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.43", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "3.4.24.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.7", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.24.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.24", "type": "external" }, { "id": "3.4.24.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.17", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "3.4.24.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.23", "type": "external" }, { "id": "3.4.24.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.22", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "3.4.21.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.1", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.21.39", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.39", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "3.4.24.65", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.65", "type": "external" }, { "id": "3.4.22.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.38", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.4.21.117", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.117", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0006508 proteolysis;GO:0016477 cell migration;GO:0022617 extracellular matrix disassembly;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 48.6, "record_id": "P14780-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100111001000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKN5-1", "uniprot_id": [ { "id": "PRDM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKN5", "type": "external" } ], "mass": 87920.0, "length": 801, "protein_name": "PR domain zinc finger protein 4", "gene_name": "PRDM4", "organism": "Human", "refseq_name": "PR domain zinc finger protein 4 isoform 1", "refseq_ac": [ { "id": "NP_036538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036538", "type": "external" } ], "gene_names_uniprotkb": "PRDM4; PFM1", "gene_names_refseq": "PFM1; PRDM4", "protein_names_uniprotkb": "PR domain zinc finger protein 4; 2.1.1.-; PR domain-containing protein 4", "protein_names_refseq": "PR domain 4; PR domain containing 4; PR domain zinc finger protein 4 isoform 1; PR domain zinc finger protein 4; PR domain-containing protein 4; PR-domain zinc-finger protein PFM1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11108); (R-HSA-193670)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10552934;11237011;22424782;23481700;24715725;25418920;25576301;25645385;26154972;26375851;26992070;27600516;27862975;28218747;28228285;28228349;28832583;28860189;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29669796;29786170;30315122;30429286;30524438;30779550;31154438;31217245;31222486;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35154160;35561310;35580925;36010968;36215666;36284347", "class_list": "", "function": "Both Prdm 4 and Prdm 5 are expressed in human corneal endothelium, primary hCECs and in HCECs-12 cells, characterised by expression of the Na(+)/K(+)-ATPase., [RefSeq, PubMed]; May function as a transcription factor involved in cell differentiation., [UniProtKB]; Results demonstrate that YAP promotes cell invasion by inducing leukocyte-specific integrin expression, and identify PRDM4 as a novel transcription factor for YAP targets., [RefSeq, PubMed]; The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9UFA6", "ec_number_list": [ { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0008168 methyltransferase activity;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035097 histone methyltransferase complex", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0010468 regulation of gene expression;GO:0032259 methylation;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9UKN5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP94-1", "uniprot_id": [ { "id": "S39A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP94", "type": "external" } ], "mass": 32742.0, "length": 309, "protein_name": "Zinc transporter ZIP2", "gene_name": "SLC39A2", "organism": "Human", "refseq_name": "zinc transporter ZIP2 isoform b", "refseq_ac": [ { "id": "NP_001243517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243517", "type": "external" } ], "gene_names_uniprotkb": "SLC39A2; ZIP2", "gene_names_refseq": "6A1; ETI-1; SLC39A2; ZIP-2; ZIP2", "protein_names_uniprotkb": "Zinc transporter ZIP2; 6A1; Eti-1; Solute carrier family 39 member 2; ZIP-2; Zrt- and Irt-like protein 2; hZIP2", "protein_names_refseq": "ZRT/IRT-like protein 2; Zrt- and Irt-like protein 2; solute carrier family 39 (zinc transporter), member 2; zinc transporter 2; zinc transporter ZIP2 isoform b; zinc transporter ZIP2; zinc uptake transporter 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:29986); (R-HSA-442380)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;10364181;10610721;10681536;11301334;12032886;12068297;12839489;14525538;15322118;15642354;16638970;16804107;17359283;17550612;18003899;18390834;19265717;19755388;28345660;29289532;29786170;29791142;30914478;31844290;35051231;7751801", "class_list": "", "function": "Reassessment of the Transport Mechanism of the Human Zinc Transporter SLC39A2., [RefSeq, PubMed]; Results provide the first structural evidence for the previously observed pH and voltage modulation of ZIP2-mediated metal transport, identify the substrate-binding site, and suggest a structure-based transport mechanism for the ZIP2 transporter. Erratum:[J Biol Chem. 2020 Mar 27;295(13):4369. doi: 10.1074/jbc.AAC120.013245. PMID: 32221034], [RefSeq, PubMed]; Results showed decreased expression of Zn uptake transporters ZIP2 and ZIP4 on mRNA and protein level correlating with SHANK3 expression levels, and found reduced levels of ZIP4 protein co-localizing with SHANK3 at the plasma membrane. ZIP4 exists in a complex with SHANK3. Further results confirmed a link between enterocytic SHANK3, ZIP2 and ZIP4. Publication Status: Online-Only, [RefSeq, PubMed]; The splice switch to DeltaC-ZIP2 as well as decreased expression of other ZIPs caused zinc deficiency, which is sufficient for induction of MUC5AC., [RefSeq, PubMed]; This gene encodes a member of the ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010]., [RefSeq]; Transporter for the divalent cation Zn(2+) (PubMed:10681536, PubMed:29791142, PubMed:30914478). Mediates the influx of Zn(2+) into cells from extracellular space. The Zn(2+) uniporter activity is independent of H(+)-driving force, but is modulated by extracellular pH and membrane potential. Also transports other divalent cations Zn(2+), Cd2(+), Cu2(+), Co2(+) in the order of decreasing affinity, respectively (PubMed:29791142, PubMed:30914478). In the skin, aids in the differentiation of keratinocytes in the epidermis (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RC76;G3V5X2;Q4QQJ1;Q4V9S4;Q96JT6;Q9UD20", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0046873 metal ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0006829 zinc ion transport;GO:0030216 keratinocyte differentiation;GO:0070574 cadmium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9NP94-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0C4-1", "uniprot_id": [ { "id": "SEM4C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0C4", "type": "external" } ], "mass": 92623.0, "length": 833, "protein_name": "Semaphorin-4C", "gene_name": "SEMA4C", "organism": "Human", "refseq_name": "semaphorin-4C precursor", "refseq_ac": [ { "id": "NP_060259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060259", "type": "external" } ], "gene_names_uniprotkb": "SEMA4C; KIAA1739; PRO34487; SEMAI", "gene_names_refseq": "M-SEMA-F; SEMA4C; SEMACL1; SEMAF; SEMAI", "protein_names_uniprotkb": "Semaphorin-4C", "protein_names_refseq": "M-Sema F; sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C; semaphorin-4C precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:54910)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;17498836;19413330;22869377;23090970;23186163;23481700;24190977;25502872;25576301;25645385;25892735;26992070;27600516;27862975;28228285;28467828;28514659;28832583;28904123;29242379;29557506;29741879;29769354;29786170;30315122;30573663;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32488085;32502341;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34459126;34747314;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36241641;36284347;36581221;37074911;37938771", "class_list": "", "function": "Cell surface receptor for PLXNB2 that plays an important role in cell-cell signaling. PLXNB2 binding promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248'. Required for normal brain development, axon guidance and cell migration (By similarity). Probable signaling receptor which may play a role in myogenic differentiation through activation of the stress-activated MAPK cascade., [UniProtKB, PubMed]; Effect of microrna-138 on epithelial-Mesenchymal transition and invasion of breast cancer cells by targeting semaphorin 4C., [RefSeq, PubMed]; Serum semaphorin4C as an auxiliary diagnostic biomarker for breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 8851, "biomarker_type": "", "glycan_count": 14, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q32MJ3;Q7Z5X0", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0038191 neuropilin binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway;GO:0001755 neural crest cell migration;GO:0001843 neural tube closure;GO:0050919 negative chemotaxis", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9C0C4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50591-1", "uniprot_id": [ { "id": "TNF10_HUMAN", "url": "https://www.uniprot.org/uniprot/P50591", "type": "external" } ], "mass": 32509.0, "length": 281, "protein_name": "Tumor necrosis factor ligand superfamily member 10", "gene_name": "TNFSF10", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 10 isoform 2", "refseq_ac": [ { "id": "NP_001177871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177871", "type": "external" } ], "gene_names_uniprotkb": "TNFSF10; APO2L; TRAIL", "gene_names_refseq": "APO2L; Apo-2L; CD253; TANCR; TL2; TNFSF10; TNLG6A; TRAIL", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 10; Apo-2 ligand; Apo-2L; Protein TRAIL; TNF-related apoptosis-inducing ligand", "protein_names_refseq": "Apo-2 ligand; TNF-related apoptosis inducing ligand TRAIL; chemokine tumor necrosis factor ligand superfamily member 10; tumor necrosis factor (ligand) family, member 10; tumor necrosis factor (ligand) superfamily, member 10; tumor necrosis factor ligand 6A; tumor necrosis factor ligand superfamily member 10 isoform 2; tumor necrosis factor superfamily member 10", "tax_id": 9606, "disease": "small cell carcinoma (Disease Ontology:DOID:0050685); polycystic ovary syndrome (Disease Ontology:DOID:11612); arteriosclerosis (Disease Ontology:DOID:2349); osteoarthritis (Disease Ontology:DOID:8398); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:8743); (R-HSA-140534); (R-HSA-3371378); (R-HSA-5213460); (R-HSA-5218900); (R-HSA-69416); (R-HSA-75158)", "pathway_count": 7, "publication_count": 93, "publication_id_list": "10485660;10542098;10549288;10837247;10894160;11237011;11384965;11463813;11717445;12181749;12198154;12215447;12620239;12620240;12887920;12912912;14609566;15024054;15289496;15760909;15814722;17081983;17327223;18190721;18256533;18485876;18838202;19278658;19416807;19524512;19524513;19683492;20218968;20308068;20696707;20852190;20951169;21235526;21737330;21859711;22265413;22421439;22817896;23981355;24059293;24280212;24316671;24703947;24813885;25171405;26457518;27397612;27846572;27862975;28467828;28904123;29557506;29681455;29930286;30429286;30484775;31154438;31844290;31848261;32157095;32269263;32350084;32561730;32938616;32983136;33043033;33717175;33912179;33968037;34171305;34185709;35051231;35154160;35251023;35580925;36241641;37938771;38316367;38562920;38787503;39090444;39365855;8663110;8777713;9082980;9311998;9721089;9880531", "class_list": "", "function": "Acquired Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand (TRAIL) Resistance of Human Colorectal Cancer Cells Is Linked to Histone Acetylation and Is Synergistically Ameliorated by Combination with HDAC Inhibitors., [RefSeq, PubMed]; Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG (PubMed:10549288, PubMed:26457518). Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis., [UniProtKB, PubMed, PubMed]; ELF3 plays an important role in defining TRAIL sensitivity in breast cancer by modulating the expression of decoy receptor 2 (DCR2). Publication Status: Online-Only, [RefSeq, PubMed]; Reduced expressions of apoptosis-related proteins TRAIL, Bcl-2, and TNFR1 in NK cells of juvenile-onset systemic lupus erythematosus patients: relations with disease activity, nephritis, and neuropsychiatric involvement. Publication Status: Online-Only, [RefSeq, PubMed]; Significance of TRAIL/Apo-2 ligand and its death receptors in apoptosis and necroptosis signalling: Implications for cancer-targeted therapeutics. Review article, [RefSeq, PubMed]; The generation of stable microvessels in ischemia is mediated by endothelial cell derived TRAIL., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1Y9B3", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0045569 TRAIL binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "P50591-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000100000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZS3-1", "uniprot_id": [ { "id": "SKI8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZS3", "type": "external" } ], "mass": 33581.0, "length": 305, "protein_name": "Superkiller complex protein 8", "gene_name": "SKIC8", "organism": "Human", "refseq_name": "superkiller complex protein 8 isoform a", "refseq_ac": [ { "id": "NP_001290176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290176", "type": "external" } ], "gene_names_uniprotkb": "SKIC8; WDR61", "gene_names_refseq": "REC14; SKI8; SKIC8; WDR61", "protein_names_uniprotkb": "Superkiller complex protein 8; Meiotic recombination REC14 protein homolog; Ski8; WD repeat-containing protein 61, N-terminally processed; WD repeat-containing protein 61", "protein_names_refseq": "SKI complex component SKI8; SKI8 homolog; SKI8 subunit of superkiller complex protein; Ski complex subunit Rec14; WD repeat domain 61; WD repeat-containing protein 61; meiotic recombination REC14 protein homolog; recombination protein REC14; superkiller complex protein 8 isoform a; superkiller complex protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:80349); (R-HSA-112382); (R-HSA-429958); (R-HSA-674695); (R-HSA-75955); (R-HSA-8866654); (R-HSA-9920588); (R-HSA-9943411)", "pathway_count": 8, "publication_count": 172, "publication_id_list": "10199401;10199952;10562279;11237011;11283721;11313498;11313499;11740563;11859374;11884399;12676794;12682017;14749774;15068804;15215855;15215856;15231747;15273322;15475613;15489290;15647753;15769464;16024656;16141059;16263726;16307923;16372014;16868077;17108083;17130289;17174896;17234882;17245413;17433364;17545563;17717186;17726030;18042460;18316726;18359941;18441014;18445686;18496526;18719106;19060886;19208625;19225159;19239894;1939271;19410543;19723507;19754307;19952111;20159561;20178742;20211137;21203937;21329877;21396873;21468892;21554508;21566123;22009320;22021426;22046413;22223895;22569126;22645359;22922743;23223233;23481700;24173023;24397554;2449431;24662292;24715725;24807418;24979766;25030448;25170678;25418920;25576301;25645385;25936802;26024233;26086376;26154972;26210183;26216882;26344566;26350214;26375851;26659056;26711259;26811146;26992070;27569044;27597759;27600516;27661449;27798111;27832191;27846572;27862975;27920218;28218747;28228285;28467828;28510447;28649982;28764923;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30524438;30550790;31154438;31217245;31530632;31844290;31848261;31867016;31998317;32006463;32152943;32157095;32161166;32265295;32357974;32387766;32432721;32488085;32502341;32778820;32897882;32938616;32983136;33298915;33392160;33592498;33633747;33691108;33912179;34087483;34357683;34932366;35051231;35120588;35318648;35580925;36010968;36284347;38665916;7660122;7660129;7660130;8370526;8625414;8991089;9450929;9489704", "class_list": "", "function": "Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency (PubMed:16307923, PubMed:19952111, PubMed:20178742). PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1 (PubMed:16307923, PubMed:19952111, PubMed:20178742). PAF1C is required for transcription of Hox and Wnt target genes (PubMed:16307923, PubMed:19952111, PubMed:20178742). PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL (PubMed:16307923, PubMed:19952111, PubMed:20178742). PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3) (PubMed:16307923, PubMed:19952111, PubMed:20178742). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription (PubMed:16307923, PubMed:19952111, PubMed:20178742). PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors (PubMed:16307923, PubMed:19952111, PubMed:20178742). In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription (PubMed:16307923, PubMed:19952111, PubMed:20178742). Required for mono- and trimethylation on histone H3 'Lys-4' (H3K4me3), dimethylation on histone H3 'Lys-79' (H3K4me3). Required for Hox gene transcription (PubMed:16307923, PubMed:19952111, PubMed:20178742). Also acts as a component of the SKI complex, a multiprotein complex that assists the RNA-degrading exosome during the mRNA decay and quality-control pathways (PubMed:16024656, PubMed:32006463, PubMed:35120588). The SKI complex catalyzes mRNA extraction from 80S ribosomal complexes in the 3'-5' direction and channels mRNA to the cytosolic exosome for degradation (PubMed:32006463, PubMed:35120588). SKI-mediated extraction of mRNA from stalled ribosomes allow binding of the Pelota-HBS1L complex and subsequent ribosome disassembly by ABCE1 for ribosome recycling (PubMed:32006463)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DW84;Q6IA22;Q7Z4X4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0055087 Ski complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0070478 nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay;GO:0016055 Wnt signaling pathway;GO:0006368 transcription elongation by RNA polymerase II;GO:0000956 nuclear-transcribed mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "Q9GZS3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60888-1", "uniprot_id": [ { "id": "CUTA_HUMAN", "url": "https://www.uniprot.org/uniprot/O60888", "type": "external" } ], "mass": 19116.0, "length": 179, "protein_name": "Protein CutA", "gene_name": "CUTA", "organism": "Human", "refseq_name": "protein CutA isoform 1", "refseq_ac": [ { "id": "NP_001014837", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014837", "type": "external" } ], "gene_names_uniprotkb": "CUTA; ACHAP; C6orf82", "gene_names_refseq": "ACHAP; C6orf82; CUTA", "protein_names_uniprotkb": "Protein CutA; Acetylcholinesterase-associated protein; Brain acetylcholinesterase putative membrane anchor", "protein_names_refseq": "acetylcholinesterase-associated protein; brain acetylcholinesterase putative membrane anchor; divalent cation tolerant protein CUTA; protein CutA isoform 1; protein CutA", "tax_id": 9606, "disease": "", "pathway": " (hsa:51596)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10800960;10954708;11237011;17924204;20112406;23234360;23481700;23584533;24715725;25502872;25576301;25645385;25813380;26375851;26992070;27846572;27862975;27920218;28218747;28228285;28446606;28467828;28514659;28832583;28855257;28871256;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30459171;30779550;31020640;31092671;31154438;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35154160;35251023;35580925;36010968;36215666;36241641;37938771;37962983;40307207", "class_list": "", "function": "Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease., [RefSeq, PubMed]; Expression profile of CUTA gene in tissues was examined & revealed CUTA gene was constitutively expressed in the 18 tissues tested; CUTA isoform2 was mainly located in mitochondria as a new potential mitochondrial protein, [RefSeq, PubMed]; Fluorescence in situ hybridization localizes the gene to chromosome 6p21.32-p21.2., [RefSeq, PubMed]; May form part of a complex of membrane proteins attached to acetylcholinesterase (AChE)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A2AB26;A2BEL4;Q3B784;Q5JXM9;Q5SU05;Q9NYQ9", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0005507 copper ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008104 intracellular protein localization;GO:0010038 response to metal ion", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "O60888-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34741-1", "uniprot_id": [ { "id": "SDC2_HUMAN", "url": "https://www.uniprot.org/uniprot/P34741", "type": "external" } ], "mass": 22160.0, "length": 201, "protein_name": "Syndecan-2", "gene_name": "SDC2", "organism": "Human", "refseq_name": "syndecan-2 precursor", "refseq_ac": [ { "id": "NP_002989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002989", "type": "external" } ], "gene_names_uniprotkb": "SDC2; HSPG1", "gene_names_refseq": "CD362; HSPG1; HSPG; SDC2; SYND2", "protein_names_uniprotkb": "Syndecan-2; Fibroglycan; HSPG; Heparan sulfate proteoglycan core protein; SYND2", "protein_names_refseq": "cell surface-associated heparan sulfate proteoglycan 1; fibroglycan; heparan sulfate proteoglycan 1, cell surface-associated; heparan sulfate proteoglycan core protein; syndecan proteoglycan 2; syndecan-2 precursor", "tax_id": 9606, "disease": "cleft palate (Disease Ontology:DOID:674); cleft lip (Disease Ontology:DOID:9296); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:6383); (R-HSA-1971475); (R-HSA-2022928); (R-HSA-2024096); (R-HSA-202733); (R-HSA-3000170); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3656237); (R-HSA-3656253); (R-HSA-381426); (R-HSA-3928662); (R-HSA-4420332); (R-HSA-8957275); (R-HSA-9694614); (R-HSA-975634); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9820960); (R-HSA-9833110); (R-HSA-9918481); (R-HSA-9918485)", "pathway_count": 22, "publication_count": 441, "publication_id_list": 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"class_list": "glycogene", "function": "Analysis of SDC2 gene promoter methylation in whole blood for noninvasive early detection of colorectal cancer., [RefSeq, PubMed]; Cell surface proteoglycan which regulates dendritic arbor morphogenesis., [UniProtKB, UniProtKB]; Cell surface proteoglycan., [UniProtKB, UniProtKB, UniProtKB]; Combined detection of SDC2/ADHFE1/PPP2R5C methylation in stool DNA for colorectal cancer screening., [RefSeq, PubMed]; SDC2 Stabilization by USP14 Promotes Gastric Cancer Progression through Co-option of PDK1. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 263, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 3, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B3KQA3;Q6PIS6;Q9H6V1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0016477 cell migration;GO:0048814 regulation of dendrite morphogenesis;GO:0048813 dendrite morphogenesis", "synthesized_glycan_count": 0, "hit_score": 46.1, "record_id": "P34741-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99572-1", "uniprot_id": [ { "id": "P2RX7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99572", "type": "external" } ], "mass": 68585.0, "length": 595, "protein_name": "P2X purinoceptor 7", "gene_name": "P2RX7", "organism": "Human", "refseq_name": "P2X purinoceptor 7", "refseq_ac": [ { "id": "NP_002553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002553", "type": "external" } ], "gene_names_uniprotkb": "P2RX7", "gene_names_refseq": "P2RX7; P2X7", "protein_names_uniprotkb": "P2X purinoceptor 7; ATP receptor; P2X7; P2Z receptor; Purinergic receptor", "protein_names_refseq": "ATP receptor; P2X purinoceptor 7; P2X7 receptor; P2Z receptor; purinergic receptor P2X, ligand gated ion channel, 7; purnergic receptor P2X 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:5027); (R-HSA-139853); (R-HSA-418346); (R-HSA-844456); (R-HSA-9660826); (R-HSA-9856532)", "pathway_count": 6, "publication_count": 103, "publication_id_list": "10.1101/2023.09.13.557529;10228183;11150303;11157473;11237011;11313357;11341329;11498534;11707406;11786556;11805119;11967258;12107182;12191486;12586825;12615073;12633871;12907444;14595024;14761955;15123679;15304325;15896293;16624800;16959974;17035398;17036048;17349957;17435760;17483156;17603038;17703304;18971257;19570822;20023662;20303873;20450227;20453110;20837475;21821797;2182768;21882811;23303206;23479567;23695678;23815895;23817414;23878142;24190977;24275569;2457808;24715725;25281740;25707358;26116704;26549800;26877061;26992070;27600516;27797339;27920218;28228285;28235784;28326637;28904123;29632711;29712950;29741879;29769354;29786170;30315122;30429286;31844290;31848261;32157095;32350084;32387766;32488085;32938616;32983136;33298915;33717175;33912179;34509645;35051231;35318648;36581221;37074911;38892324;38928378;38993566;38996986;39142135;39219047;39262850;450099;8646775;9023774;9038151;9494101;9565569;9826911;9930701", "class_list": "", "function": "ATP-gated nonselective transmembrane cation channel that requires high millimolar concentrations of ATP for activation (PubMed:17483156, PubMed:25281740, PubMed:9038151). Upon ATP binding, it rapidly opens to allow the influx of small cations Na(+) and Ca(2+), and the K(+) efflux (PubMed:17483156, PubMed:20453110, PubMed:28235784, PubMed:39262850). Also has the ability to form a large pore in the cell membrane, allowing the passage of large cationic molecules (PubMed:17483156). In microglia, may mediate NADPH transport across the plasma membrane (PubMed:39142135). In immune cells, P2RX7 acts as a molecular sensor in pathological inflammatory states by detecting and responding to high local concentrations of extracellar ATP. In microglial cells, P2RX7 activation leads to the release of pro-inflammatory cytokines, such as IL-1beta and IL-18, through the activation of the NLRP3 inflammasome and caspase-1 (PubMed:26877061). Cooperates with KCNK6 to activate NLRP3 inflammasome (By similarity). Activates death pathways leading to apoptosis and autophagy (PubMed:21821797, PubMed:23303206, PubMed:28326637). Activates death pathways leading to pyroptosis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; First description of the expression of functional P2X7 receptors in a subpopulation of osteoblasts, activation of which can result in ATP-mediated apoptosis., [RefSeq, PubMed]; Genetic Polymorphisms of P2RX7 but Not of ADORA2A Are Associated with the Severity of SARS-CoV-2 Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Increased concentrations of P2X7R in oligodendrocyte derived extracellular vesicles of Multiple sclerosis patients., [RefSeq, PubMed]; Inhibition of P2RX7 contributes to cytotoxicity by suppression of glycolysis and AKT activation in human hepatocellular carcinoma., [RefSeq, PubMed]; Non-functional channel., [UniProtKB, PubMed, PubMed]; P2X7 Variants in Pathophysiology. Review article Publication Status: Online-Only, [RefSeq, PubMed]; P2X7R Modulates NEK7-NLRP3 Interaction to Exacerbate Experimental Autoimmune Prostatitis via GSDMD-mediated Prostate Epithelial Cell Pyroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Shows ion channel activity but no macropore function., [UniProtKB, PubMed]; The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 5, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "diagnostic", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K2Z0;E7EMK6;F5H6P2;F5H7E8;F8W951;O14991;Q15G98;Q4VKH8;Q4VKH9;Q4VKI0;Q4VKI1;Q4VKI2;Q4VKI3;Q4VKI4;Q7Z771;Q96EV7", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0016020 membrane;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0051495 positive regulation of cytoskeleton organization;GO:0002931 response to ischemia;GO:0007166 cell surface receptor signaling pathway;GO:0010628 positive regulation of gene expression;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q99572-1", "record_type": "protein", "filter_code": "1000000.1100101.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UI14-1", "uniprot_id": [ { "id": "PRAF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UI14", "type": "external" } ], "mass": 20648.0, "length": 185, "protein_name": "Prenylated Rab acceptor protein 1", "gene_name": "RABAC1", "organism": "Human", "refseq_name": "prenylated Rab acceptor protein 1", "refseq_ac": [ { "id": "NP_006414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006414", "type": "external" } ], "gene_names_uniprotkb": "RABAC1; PRA1; PRAF1", "gene_names_refseq": "PRA1; PRAF1; RABAC1; YIP3", "protein_names_uniprotkb": "Prenylated Rab acceptor protein 1; PRA1 family protein 1", "protein_names_refseq": "PRA1 domain family 1; PRA1 family protein 1; Rab acceptor 1 (prenylated); prenylated Rab acceptor 1; prenylated Rab acceptor protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10567)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "10329441;11237011;11520070;15922294;16481131;20112406;23481700;23783831;24366607;24714562;25505266;25576301;26154972;26375851;26728094;26992070;27397612;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30524438;30833945;31003775;31154438;31217245;31530632;31844290;31998317;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34405274;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36284347", "class_list": "", "function": "General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal of Rab GTPases from the membrane by GDI., [UniProtKB, UniProtKB]; RABAC1 caused caspase-3 activation and decreased cell proliferation, clonogenic cell survival, and cell migration and invasion., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z4Y2;Q9Y3R1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0070064 proline-rich region binding;GO:0051020 GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0008021 synaptic vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9UI14-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0Q3-1", "uniprot_id": [ { "id": "FXYD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0Q3", "type": "external" } ], "mass": 10542.0, "length": 95, "protein_name": "FXYD domain-containing ion transport regulator 6", "gene_name": "FXYD6", "organism": "Human", "refseq_name": "FXYD domain-containing ion transport regulator 6 precursor", "refseq_ac": [ { "id": "NP_001158303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158303", "type": "external" } ], "gene_names_uniprotkb": "FXYD6; PRO1056", "gene_names_refseq": "FXYD6", "protein_names_uniprotkb": "FXYD domain-containing ion transport regulator 6; Phosphohippolin", "protein_names_refseq": "FXYD domain-containing ion transport regulator 6 precursor; phosphohippolin", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:53826); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 107, "publication_id_list": "10087012;10220561;10401004;10484781;10615129;10767338;10913253;11062458;11230166;11237011;11904675;12119109;12832055;12953268;12975309;15146197;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16115318;16182249;16522641;1656976;16700898;16754674;1693919;17224452;17357072;17486119;17662961;18455306;18723824;18995841;19278978;19345671;19531498;19751721;19878721;20149392;20223979;20388710;20468077;21108950;2160952;22186024;22210847;2226863;22401777;22427649;22552008;22707725;22814904;22972900;23196729;23362265;23549614;23610579;23641311;24272870;2430951;24392018;24584101;24715268;24715725;2477373;2559024;25801024;25994790;26002965;26302771;27067231;2838329;28425720;28645727;2953725;29557506;29945920;30201761;31048504;31154438;31844290;32387766;33231612;34509645;35051231;35580925;36010968;36075933;38093622;6328127;6832622;7626145;7702581;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285", "class_list": "", "function": "Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. Reduces the apparent affinity for intracellular Na(+) with no change in the apparent affinity for extracellular K(+) (PubMed:33231612). In addition to modulating NKA kinetics, may also function as a regulator of NKA localization to the plasma membrane (By similarity)., [UniProtKB, UniProtKB, PubMed]; Base-pair changes in FXYD6 or in associated promoter/control regions are likely to cause abnormal function or expression of phosphohippolin and to increase genetic susceptibility to schizophrenia. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Data show that FXYD6 does not play a role in schizophrenia in the Chinese Han population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; FXYD protein isoforms differentially modulate human Na/K pump function., [RefSeq, PubMed]; FXYD6 plays a critical role of in hepatocellular carcinoma disease progression., [RefSeq, PubMed]; FXYD6 was verified to be directly interacting with miR-137.., [RefSeq, PubMed]; Identification of FXYD6 as the novel biomarker for glioma based on differential expression and DNA methylation., [RefSeq, PubMed]; May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase., [UniProtKB, UniProtKB]; Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our findings suggest that FXYD6 is unlikely to be related to the development of schizophrenia in a Japanese population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0R4;J3QLD2;Q6FIG9;Q6UW52", "ec_number_list": [], "go_molecular_function": "GO:0017080 sodium channel regulator activity;GO:0099106 ion channel regulator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane;GO:0042734 presynaptic membrane;GO:0016020 membrane", "go_biological_process": "GO:0006883 intracellular sodium ion homeostasis;GO:0010248 establishment or maintenance of transmembrane electrochemical gradient;GO:0030007 intracellular potassium ion homeostasis;GO:0036376 sodium ion export across plasma membrane;GO:1903278 positive regulation of sodium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9H0Q3-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UH77-1", "uniprot_id": [ { "id": "KLHL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UH77", "type": "external" } ], "mass": 64970.0, "length": 587, "protein_name": "Kelch-like protein 3", "gene_name": "KLHL3", "organism": "Human", "refseq_name": "kelch-like protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001244123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244123", "type": "external" } ], "gene_names_uniprotkb": "KLHL3; KIAA1129", "gene_names_refseq": "KLHL3; PHA2D", "protein_names_uniprotkb": "Kelch-like protein 3", "protein_names_refseq": "kelch-like protein 3 isoform 2; kelch-like protein 3", "tax_id": 9606, "disease": "pseudohypoaldosteronism (Disease Ontology:DOID:4479); pseudohypoaldosteronism type 2D (MONDO:MONDO:0013781)", "pathway": " (hsa:26249); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 177, "publication_id_list": "10535940;10597293;10811609;10843806;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14528312;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22266938;22306028;22406640;22466964;22537386;2261476;22959436;23201271;23333871;23387299;23401859;23453757;23453970;23481700;23535662;23535663;23563313;23573258;23576762;23583660;23665031;23912815;23986495;24076655;24366543;24636985;24641320;24715725;24793695;24793696;25313067;25314029;25349211;25355947;25531226;26344709;26435498;26460955;26632597;26768311;26906416;27026694;27030794;27222660;27565346;27727489;27780982;28052936;28115426;28218747;28228285;28511177;29153394;29242379;29314611;29437277;29557506;30315122;30429286;30610225;30718414;31154438;31530632;31844290;32005965;32284348;32357974;32502341;33141586;33298915;33444648;33592498;33912179;33968037;34022862;34171305;34932366;35051231;35093948;35179207;35580925;35585379;36010968;37481568;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "KLHL3-dependent WNK4 degradation affected by potassium through the neddylation and autophagy pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Kelch-like protein 3 in human disease and therapy. Review article, [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron (PubMed:14528312, PubMed:22406640, PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031, PubMed:25313067, PubMed:35093948). The BCR(KLHL3) complex acts by mediating ubiquitination and degradation of WNK1 and WNK4, two activators of Na-Cl cotransporter SLC12A3/NCC in distal convoluted tubule cells of kidney, thereby regulating NaCl reabsorption (PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031, PubMed:25313067, PubMed:35093948). The BCR(KLHL3) complex also mediates ubiquitination and degradation of WNK3 (PubMed:35179207). The BCR(KLHL3) complex also mediates ubiquitination of CLDN8, a tight-junction protein required for paracellular chloride transport in the kidney, leading to its degradation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBK7;Q9UH75;Q9UH76;Q9ULU0;Q9Y6V6", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005198 structural molecule activity;GO:0097602 cullin family protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0016236 macroautophagy;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0070936 protein K48-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "Q9UH77-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3G5-1", "uniprot_id": [ { "id": "CPVL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3G5", "type": "external" } ], "mass": 54164.0, "length": 476, "protein_name": "Probable serine carboxypeptidase CPVL", "gene_name": "CPVL", "organism": "Human", "refseq_name": "probable serine carboxypeptidase CPVL isoform b precursor", "refseq_ac": [ { "id": "NP_001334981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334981", "type": "external" } ], "gene_names_uniprotkb": "CPVL; PRO223; PSEC0124; VLP", "gene_names_refseq": "CPVL; HVLP", "protein_names_uniprotkb": "Probable serine carboxypeptidase CPVL; 3.4.16.-; Carboxypeptidase, vitellogenic-like; VCP-like protein; Vitellogenic carboxypeptidase-like protein; hVLP", "protein_names_refseq": "CP-Mac carboxypeptidase; VCP-like protein; carboxypeptidase WUG; probable serine carboxypeptidase CPVL isoform b precursor; probable serine carboxypeptidase CPVL; vitellogenic carboxypeptidase-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54504)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11401439;12975309;16303743;19159218;20460425;21081667;21850230;21911749;22661428;23090970;23301498;23719902;23783831;24190977;25576301;27452731;27600516;27726376;28832583;29314611;29557506;29632711;29741879;29786170;29789417;30059200;30779550;31844290;32157095;32350084;32983136;33043033;33091337;33392160;33592498;33936100;33968037;34019948;34171305;34185709;35051231;35251023;35580925;36010968;36241641;36284347;37074911;37712963;37938771;40596516", "class_list": "", "function": "CPVL suppresses metastasis of nasopharyngeal carcinoma through inhibiting epithelial-mesenchymal transition., [RefSeq, PubMed]; Genetic association studies in a Chinese population with type 2 diabetes: An SNP in CPVL (rs39059) is associated with diabetic retinopathy in a Chinese population of type 2 diabetic patients., [RefSeq, PubMed]; May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 109, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A4D1A4;Q6UX20;Q8NBL7;Q96AR7;Q9HB41", "ec_number_list": [], "go_molecular_function": "GO:0004185 serine-type carboxypeptidase activity", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "Q9H3G5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13363-1", "uniprot_id": [ { "id": "CTBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13363", "type": "external" } ], "mass": 47535.0, "length": 440, "protein_name": "C-terminal-binding protein 1", "gene_name": "CTBP1", "organism": "Human", "refseq_name": "C-terminal-binding protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001012632", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012632", "type": "external" } ], "gene_names_uniprotkb": "CTBP1; CTBP", "gene_names_refseq": "BARS; CTBP1; HADDTS", "protein_names_uniprotkb": "C-terminal-binding protein 1; 1.1.1.-; CtBP1", "protein_names_refseq": "C-terminal-binding protein 1 isoform 2; brefeldin A-ribosylated substrate", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); aromatic L-amino acid decarboxylase deficiency (Disease Ontology:DOID:0090123); portal hypertension (Disease Ontology:DOID:10762); nephrotic syndrome (Disease Ontology:DOID:1184); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); hyperinsulinism (Disease Ontology:DOID:2018); bipolar disorder (Disease Ontology:DOID:3312); primary ovarian insufficiency (Disease Ontology:DOID:5426); inherited metabolic disorder (Disease Ontology:DOID:655); end stage renal disease (Disease Ontology:DOID:783); hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (MONDO:MONDO:0060666)", "pathway": " (hsa:1487); (R-HSA-3769402); (R-HSA-3899300); (R-HSA-4641265); (R-HSA-5339700); (R-HSA-9764725)", "pathway_count": 6, "publication_count": 214, "publication_id_list": "10375506;10485457;10485845;10549281;10559189;10597289;10655587;10831834;10898789;10919662;10921920;10944533;11237011;11266540;11290324;11462050;11477070;11509661;11568182;11691915;11842083;11912130;11934263;12150977;12372828;12408824;12408825;12419229;12529333;12679040;12700765;12711682;12712206;12718889;12872159;14567915;14600025;14685266;15060175;15121853;15132997;15187083;15327769;15525529;15542832;15708980;15766567;15768032;15897867;15958389;15976810;16061479;16098147;16393996;16510874;16547505;16609867;16702210;16757475;16984892;17079232;17081986;17085477;17130829;17218525;17298944;17369852;17412698;17525332;17535915;17698607;17803295;17875931;17942393;18082607;18211901;18212045;18339323;18378692;18456656;18488044;18573912;18598779;18621708;18721877;18819930;19047045;19103759;19240082;19364920;19460168;19590513;19596686;19615980;19928349;19940019;19995069;20068231;20098713;20176810;20405012;20418909;20676127;20871592;21338522;21527249;22158034;22304967;22424782;22467880;22713328;23186163;23256519;23291169;23404503;23466526;23481700;23673342;23707407;23747199;24291232;24366607;24715725;25114211;25218447;25576301;25645385;25728771;25800734;26154972;26212009;26375851;26416879;26811146;26992070;27094857;27600516;27846572;27862975;28446606;28832583;29242379;29331515;29493099;29508533;29557506;29729076;29786170;29789417;30315122;30410026;30429286;30524438;30833945;30898548;31092671;31154438;31530632;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33608512;33613771;33691108;33717175;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34932366;35008676;35051231;35138000;35154160;35292107;35318648;35580925;35851744;36010968;36629882;36688959;36764210;37938771;38665916;39294274;40914422;7479821;8365415;8440238;8955148;9751710;9783587;9819412;9858600;9887105", "class_list": "", "function": "CTBP1 links metabolic syndrome to polycystic ovary syndrome through interruption of aromatase and SREBP1. Publication Status: Online-Only, [RefSeq, PubMed]; Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-kappaB-dependent inflammation response., [RefSeq, PubMed]; Succinylation of CTBP1 mediated by KAT2A suppresses its inhibitory activity on the transcription of CDH1 to promote the progression of prostate cancer., [RefSeq, PubMed]; The CRL4[DCAF6] E3 ligase ubiquitinates CtBP1/2 to induce apoptotic signalling and promote intervertebral disc degeneration., [RefSeq, PubMed]; This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4W5N3;Q7Z2Q5", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0098831 presynaptic active zone cytoplasmic component;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0097091 synaptic vesicle clustering;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006468 protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "Q13363-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14406-1", "uniprot_id": [ { "id": "CSHL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14406", "type": "external" } ], "mass": 25391.0, "length": 222, "protein_name": "Chorionic somatomammotropin hormone-like 1", "gene_name": "CSHL1", "organism": "Human", "refseq_name": "chorionic somatomammotropin hormone-like 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_072101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072101", "type": "external" } ], "gene_names_uniprotkb": "CSHL1; CSHP1; CSL", "gene_names_refseq": "CS-5; CSHL1; CSHP1; CSL; GHB4; hCS-L", "protein_names_uniprotkb": "Chorionic somatomammotropin hormone-like 1; Chorionic somatomammotropin-like; Lactogen-like", "protein_names_refseq": "chorionic somatomammotropin CS-5; chorionic somatomammotropin hormone-like 1 isoform 1 precursor; epididymis secretory sperm binding protein; growth hormone B4; growth hormone cluster", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); abdominal obesity-metabolic syndrome (Disease Ontology:DOID:0060611); isolated growth hormone deficiency type II (Disease Ontology:DOID:0060872); hypertension (Disease Ontology:DOID:10763); osteoporosis (Disease Ontology:DOID:11476); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1444)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;19913121;20628086;2744760;8083227", "class_list": "", "function": "May be a novel gestational hormone required to compensate for absence of other members of the GH/CS cluster during gestation., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DU26;D3DU27;Q0VDB2", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005179 hormone activity;GO:0008083 growth factor activity;GO:0005131 growth hormone receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0012505 endomembrane system;GO:0031982 vesicle;GO:0005576 extracellular region", "go_biological_process": "GO:0031667 response to nutrient levels;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT;GO:0048513 animal organ development;GO:0060396 growth hormone receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q14406-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53TN4-1", "uniprot_id": [ { "id": "CYBR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53TN4", "type": "external" } ], "mass": 31641.0, "length": 286, "protein_name": "Plasma membrane ascorbate-dependent reductase CYBRD1", "gene_name": "CYBRD1", "organism": "Human", "refseq_name": "plasma membrane ascorbate-dependent reductase CYBRD1 isoform 2", "refseq_ac": [ { "id": "NP_001120855", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120855", "type": "external" } ], "gene_names_uniprotkb": "CYBRD1; DCYTB; FRRS3", "gene_names_refseq": "CYB561A2; CYBRD1; DCYTB; FRRS3", "protein_names_uniprotkb": "Plasma membrane ascorbate-dependent reductase CYBRD1; 7.2.1.3; Cytochrome b reductase 1; Duodenal cytochrome b; Ferric-chelate reductase 3", "protein_names_refseq": "cytochrome b561 family, member A2; duodenal cytochrome b; ferric-chelate reductase 3; plasma membrane ascorbate-dependent reductase CYBRD1 isoform 2; plasma membrane ascorbate-dependent reductase CYBRD1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79901); (R-HSA-917937)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10597293;11230166;11237011;11323407;12453412;12504026;12949720;12958161;14576842;15001581;15044468;15201052;15338274;15531878;15537541;16143108;16274220;16377569;16407072;16510471;16521301;16521311;16521312;17068337;17081983;17087784;18194661;18578522;18669648;19415658;1946430;19673882;19690332;19762596;19762597;20068231;20550936;2154449;23186163;23481700;23615448;25576301;27862975;28218747;28904123;29242379;29437277;30272000;30315122;30410026;30429286;31530632;31844290;31848261;32157095;32350084;32488085;32938616;32983136;33298915;33592498;33912179;33968037;34714955;35580925;36593242;38665916;39419238;7983023;8041788;8695634", "class_list": "", "function": "DDX17 induces epithelial-mesenchymal transition and metastasis through the miR-149-3p/CYBRD1 pathway in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Duodenal cytochrome b present in human erythrocytes may contribute to their ability to reduce extracellular monodehydroascorbate., [RefSeq, PubMed]; EGFR upregulates miRNA subset to inhibit CYBRD1 and cause DDP resistance in gastric cancer., [RefSeq, PubMed]; In Africans with iron overload not related to the HFE gene, the possible involvement of the SLC40A1 and CYBRD1 genes was demonstrated for the first time. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; MiR-423-3p activates FAK signaling pathway to drive EMT process and tumor growth in lung adenocarcinoma through targeting CYBRD1., [RefSeq, PubMed]; Plasma membrane reductase that uses cytoplasmic ascorbate as an electron donor to reduce extracellular Fe(3+) into Fe(2+) (PubMed:30272000). Probably functions in dietary iron absorption at the brush border of duodenal enterocytes by producing Fe(2+), the divalent form of iron that can be transported into enterocytes (PubMed:30272000). It is also able to reduce extracellular monodehydro-L-ascorbate and may be involved in extracellular ascorbate regeneration by erythrocytes in blood (PubMed:17068337). May also act as a ferrireductase in airway epithelial cells (Probable). May also function as a cupric transmembrane reductase (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RE79;B4DWD7;Q6KC16;Q6KC17;Q6P147;Q6ZR51;Q9H0Q8;Q9H5G5", "ec_number_list": [ { "id": "7.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.1.3", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0016491 oxidoreductase activity;GO:0016722 oxidoreductase activity, acting on metal ions;GO:0140575 transmembrane monodehydroascorbate reductase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0060586 multicellular organismal-level iron ion homeostasis;GO:0140576 ascorbate homeostasis;GO:0033215 reductive iron assimilation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q53TN4-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQB3-1", "uniprot_id": [ { "id": "CTND2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQB3", "type": "external" } ], "mass": 132656.0, "length": 1225, "protein_name": "Catenin delta-2", "gene_name": "CTNND2", "organism": "Human", "refseq_name": "catenin delta-2 isoform 3", "refseq_ac": [ { "id": "NP_001275645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275645", "type": "external" } ], "gene_names_uniprotkb": "CTNND2; NPRAP", "gene_names_refseq": "CTNND2; GT24; NPRAP", "protein_names_uniprotkb": "Catenin delta-2; Delta-catenin; GT24; NPRAP; Neural plakophilin-related ARM-repeat protein; Neurojungin", "protein_names_refseq": "T-cell delta-catenin; catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein); catenin delta-2 isoform 3; neurojungin", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); major depressive disorder (Disease Ontology:DOID:1470); anxiety disorder (Disease Ontology:DOID:2030); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:1501)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10037471;10208590;11237011;15345747;16959974;17525332;17993462;19706605;19706687;20573893;22022388;22706990;25009281;25807484;25892735;26375851;26992070;27600516;28228285;28514659;28657654;29242379;29393594;29508533;29557506;29632046;30315122;30379171;31154438;31844290;32157095;32313227;32502341;33141586;33298915;33592498;33633747;33912179;34211107;34357683;34509645;35051231;35132862;35318648;35580925;37217939;37340703;38604781;39256359;39352808;9049630;9223106;9342840;9971746", "class_list": "", "function": "CTNND2 moderates the pace of synaptic maturation and links human evolution to synaptic neoteny., [RefSeq, PubMed]; Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules., [UniProtKB, UniProtKB, PubMed, PubMed]; Intratumor delta-catenin heterogeneity driven by genomic rearrangement dictates growth factor dependent prostate cancer progression., [RefSeq, PubMed]; Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2., [RefSeq, PubMed]; This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 85, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B0FTZ7;O00379;O15390;O43206;O43840;Q13589;Q9UM66;Q9UPM3", "ec_number_list": [], "go_molecular_function": "GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0014069 postsynaptic density", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0050808 synapse organization;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9UQB3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49238-1", "uniprot_id": [ { "id": "CX3C1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49238", "type": "external" } ], "mass": 40396.0, "length": 355, "protein_name": "CX3C chemokine receptor 1", "gene_name": "CX3CR1", "organism": "Human", "refseq_name": "CX3C chemokine receptor 1 isoform b", "refseq_ac": [ { "id": "NP_001164642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164642", "type": "external" } ], "gene_names_uniprotkb": "CX3CR1; CMKBRL1; GPR13", "gene_names_refseq": "CCRL1; CMKBRL1; CMKDR1; CX3CR1; GPR13; GPRV28; V28", "protein_names_uniprotkb": "CX3C chemokine receptor 1; Beta chemokine receptor-like 1; C-X3-C CKR-1; CMK-BRL-1; CMK-BRL1; CX3CR1; Fractalkine receptor; G protein-coupled receptor 13; V28", "protein_names_refseq": "C-X3-C CKR-1; CMK-BRL-1; CMK-BRL1; CX3C chemokine receptor 1 isoform b; CX3C chemokine receptor 1; G-protein coupled receptor 13; beta chemokine receptor-like 1; chemokine (C-C) receptor-like 1; chemokine (C-X3-C motif) receptor 1; chemokine (C-X3-C) receptor 1; fractalkine receptor", "tax_id": 9606, "disease": "Parkinsonism (Disease Ontology:DOID:0080855); graft-versus-host disease (Disease Ontology:DOID:0081267); age related macular degeneration 12 (Disease Ontology:DOID:0110024); otitis media (Disease Ontology:DOID:10754); portal hypertension (Disease Ontology:DOID:10762); sciatic neuropathy (Disease Ontology:DOID:11446); retinal vasculitis (Disease Ontology:DOID:11563); uveitis (Disease Ontology:DOID:13141); cystitis (Disease Ontology:DOID:1679); status epilepticus (Disease Ontology:DOID:1824); transient cerebral ischemia (Disease Ontology:DOID:224); nephrosis (Disease Ontology:DOID:2527); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); atopic dermatitis (Disease Ontology:DOID:3310); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); borna disease (Disease Ontology:DOID:5154); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); prion disease (Disease Ontology:DOID:649); psoriasis (Disease Ontology:DOID:8893); hepatopulmonary syndrome (Disease Ontology:DOID:900); systemic lupus erythematosus (Disease Ontology:DOID:9074); pulmonary embolism (Disease Ontology:DOID:9477); obesity (Disease Ontology:DOID:9970); susceptibility to HIV infection (MONDO:MONDO:0004951)", "pathway": " (hsa:1524); (R-HSA-380108); (R-HSA-418594); (R-HSA-9820960); (R-HSA-9833110)", "pathway_count": 5, "publication_count": 102, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10731151;10781587;11007482;11060282;11237011;11264153;11477410;11607032;12055230;12120503;12149255;12551893;12554737;12884299;14581400;14607932;14976261;15067078;15208270;15809764;15951850;16107333;16634148;16923326;1744577;17611763;17909628;1840701;18420935;18434541;18577758;1891716;18971423;20002784;20410276;2078213;20974991;22090124;2217207;23125415;23481700;2423119;24715725;2534964;25854864;26154972;26992070;2748346;2834384;28791023;28832583;29242379;29326275;29427996;29557506;2970963;29786170;30429286;3098319;31848261;32161166;32387766;3260265;32983136;34509645;36010968;36102648;38660801;38715600;38760287;38793659;7590284;7602097;7622448;7642634;7646814;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518;9726990;9782118", "class_list": "", "function": "(Microbial infection) Acts as a coreceptor with CD4 for HIV-1 virus envelope protein (PubMed:14607932). May have more potent HIV-1 coreceptor activity than isoform 1 (PubMed:14607932)., [UniProtKB, PubMed]; (Microbial infection) Acts as a coreceptor with CD4 for HIV-1 virus envelope protein., [UniProtKB, PubMed, PubMed]; Deciphering the role of CX3CL1-CX3CR1 in aortic aneurysm pathogenesis: insights from Mendelian randomization and transcriptomic analyses. Publication Status: Online-Only, [RefSeq, PubMed]; Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]., [RefSeq]; M[6]A Reader YTHDC1 Impairs Respiratory Syncytial Virus Infection by Downregulating Membrane CX3CR1 Expression. Publication Status: Online-Only, [RefSeq, PubMed]; Mild Hypoxia Accelerates Cerebral Cavernous Malformation Disease Through CX3CR1-CX3CL1 Signaling., [RefSeq, PubMed]; Receptor for the C-X3-C chemokine fractalkine (CX3CL1) present on many early leukocyte cells; CX3CR1-CX3CL1 signaling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chemotaxis (PubMed:12055230, PubMed:23125415, PubMed:9390561, PubMed:9782118). CX3CR1-CX3CL1 signaling mediates cell migratory functions (By similarity). Responsible for the recruitment of natural killer (NK) cells to inflamed tissues (By similarity). Acts as a regulator of inflammation process leading to atherogenesis by mediating macrophage and monocyte recruitment to inflamed atherosclerotic plaques, promoting cell survival (By similarity). Involved in airway inflammation by promoting interleukin 2-producing T helper (Th2) cell survival in inflamed lung (By similarity). Involved in the migration of circulating monocytes to non-inflamed tissues, where they differentiate into macrophages and dendritic cells (By similarity). Acts as a negative regulator of angiogenesis, probably by promoting macrophage chemotaxis (PubMed:14581400, PubMed:18971423). Plays a key role in brain microglia by regulating inflammatory response in the central nervous system (CNS) and regulating synapse maturation (By similarity). Required to restrain the microglial inflammatory response in the CNS and the resulting parenchymal damage in response to pathological stimuli (By similarity). Involved in brain development by participating in synaptic pruning, a natural process during which brain microglia eliminates extra synapses during postnatal development (By similarity). Synaptic pruning by microglia is required to promote the maturation of circuit connectivity during brain development (By similarity). Acts as an important regulator of the gut microbiota by controlling immunity to intestinal bacteria and fungi (By similarity). Expressed in lamina propria dendritic cells in the small intestine, which form transepithelial dendrites capable of taking up bacteria in order to provide defense against pathogenic bacteria (By similarity). Required to initiate innate and adaptive immune responses against dissemination of commensal fungi (mycobiota) component of the gut: expressed in mononuclear phagocytes (MNPs) and acts by promoting induction of antifungal IgG antibodies response to confer protection against disseminated C.albicans or C.auris infection (PubMed:29326275). Also acts as a receptor for C-C motif chemokine CCL26, inducing cell chemotaxis (PubMed:20974991)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Relationship between aggressive features of oral squamous cell carcinoma and the immunoexpression of CX3CR1, CX3CL1 and ITGAV., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 29, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0N0N6;B2R5Z4;J3KP17", "ec_number_list": [], "go_molecular_function": "GO:0031737 CX3C chemokine receptor binding;GO:0004930 G protein-coupled receptor activity;GO:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding", "go_cellular_component": "GO:0097447 dendritic tree;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0048471 perinuclear region of cytoplasm;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:1904139 regulation of microglial cell migration;GO:0002931 response to ischemia;GO:0006935 chemotaxis;GO:0006955 immune response;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "P49238-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43169-1", "uniprot_id": [ { "id": "CYB5B_HUMAN", "url": "https://www.uniprot.org/uniprot/O43169", "type": "external" } ], "mass": 16695.0, "length": 150, "protein_name": "Cytochrome b5 type B", "gene_name": "CYB5B", "organism": "Human", "refseq_name": "cytochrome b5 type B", "refseq_ac": [ { "id": "NP_085056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085056", "type": "external" } ], "gene_names_uniprotkb": "CYB5B; CYB5M; OMB5", "gene_names_refseq": "CYB5-M; CYB5B; CYPB5M; OMB5", "protein_names_uniprotkb": "Cytochrome b5 type B; Cytochrome b5 outer mitochondrial membrane isoform", "protein_names_refseq": "cytochrome b5 type B (outer mitochondrial membrane); cytochrome b5 type B; outer mitochondrial membrane cytochrome b5; type 2 cyt-b5", "tax_id": 9606, "disease": "", "pathway": " (hsa:80777); (R-HSA-1660661); (R-HSA-203615); (R-HSA-211945)", "pathway_count": 4, "publication_count": 187, "publication_id_list": "10376602;10376603;10445380;10469573;10559837;10722674;10751414;10781589;10802064;10945627;10947957;11154734;11208594;11237011;11422004;11498544;11867265;11879202;11893755;11937514;11988487;12725862;12732646;12799359;1351198;14530264;14685229;14685263;14976195;15063729;15328338;15337768;15350128;15492766;15523003;15535985;15598505;16100120;16118219;16571669;16614850;16722822;16765324;16793762;16864653;16895911;17023427;17050692;17331073;17355976;17400359;17449912;17591919;17982138;18165232;18165233;18171027;18184806;18254726;18256025;18285471;18446211;18491316;18669648;18767875;19005213;19053771;19147491;19233134;19416851;19506037;19588076;19608861;19663506;19764817;20007405;20061445;20100355;20110355;20177059;20182505;20422440;20511233;20542992;21620961;21898353;22517924;22700792;22813719;22970244;23180825;23186163;23481700;23602659;23616950;23754960;23953689;24129315;24423752;24569996;24677340;24782409;24900196;25144769;25418920;25425164;25446851;25576301;25788259;25892735;25923589;26728094;27920218;28228285;28510447;28575652;28649982;28671819;28832583;2897122;29242379;29314611;29393594;29493099;29508533;29557506;29563527;29769354;30779550;30833945;31222486;31844290;31895563;32152082;32171872;32187464;32205870;32210741;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33633747;33691108;33717175;33912179;33981976;34087483;34171305;34357683;34433824;34561969;34932366;35051231;35083852;35409383;35561310;36215666;36241641;36581221;36902339;36907437;37224812;37296100;37390971;4339164;4817756;7512951;7980644;8692835;8798458;8985016;9169443;9188442;9188692;9312549;9325253;9363775;9367528;9580552;9653080;9712842", "class_list": "", "function": "Could be involved in the differential modulation of 17 alpha-hydroxylase and 17,20-lyase activities of P450c17 [type2 cyt-b5], [RefSeq, PubMed]; Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The 21 kDa protein overexpressed in Hodgkin Lymphoma and aggressive non-Hodgkin Lymphomas is identical to CYB5B. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K6B1;J3KNF8;Q96CC3;Q9BT35", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0020037 heme binding", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:1903958 nitric-oxide synthase complex", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0006805 xenobiotic metabolic process;GO:0006809 nitric oxide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "O43169-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15509-1", "uniprot_id": [ { "id": "CSF2R_HUMAN", "url": "https://www.uniprot.org/uniprot/P15509", "type": "external" } ], "mass": 46207.0, "length": 400, "protein_name": "Granulocyte-macrophage colony-stimulating factor receptor subunit alpha", "gene_name": "CSF2RA", "organism": "Human", "refseq_name": "granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor", "refseq_ac": [ { "id": "NP_001155001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001", "type": "external" } ], "gene_names_uniprotkb": "CSF2RA; CSF2RY; CSF2R", "gene_names_refseq": "CD116; CDw116; CSF2RAX; CSF2RAY; CSF2RA; CSF2RX; CSF2RY; CSF2R; GM-CSF-R-alpha; GMCSFR-alpha; GMCSFR; GMR-alpha; GMR; SMDP4; alphaGMR", "protein_names_uniprotkb": "Granulocyte-macrophage colony-stimulating factor receptor subunit alpha; CDw116; GM-CSF-R-alpha; GMCSFR-alpha; GMR-alpha", "protein_names_refseq": "CD116 antigen; GM-CSF receptor alpha subunit; alpha-GM-CSF receptor; colony stimulating factor 2 receptor alpha subunit; colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage); granulocyte-macrophage colony-stimulating factor receptor alpha chain; granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor; granulocyte-macrophage colony-stimulating factor receptor subunit alpha", "tax_id": 9606, "disease": "progressive myoclonus epilepsy 1A (Disease Ontology:DOID:0111452); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); Unverricht-Lundborg syndrome (Disease Ontology:DOID:3535)", "pathway": " (hsa:1438); (R-HSA-512988); (R-HSA-5673001); (R-HSA-5683826); (R-HSA-5688849); (R-HSA-5688890); (R-HSA-912526)", "pathway_count": 7, "publication_count": 178, "publication_id_list": "10.1101/2023.09.13.557529;10207047;10368295;10455108;10477686;10477722;10485905;10496952;10508167;10570274;10580105;10625644;10869344;10949031;10982827;11027663;11090077;11136978;11237011;11278984;11313946;11328862;11340297;11546808;11563989;11702783;12032311;12094235;12121613;12185598;12882447;1325798;1339284;1358805;1396555;1400495;1415726;14506247;1465135;14707138;15356145;1545823;15546878;1568474;15926889;16006481;16199866;1636732;16423266;16627759;16630564;16684964;1702217;1715577;1716764;17496061;17675186;17681666;17998941;18020944;1832774;1833064;1833065;18692472;18775330;18955567;18955570;1898081;1898771;19100526;19144824;19279408;1928448;19824815;19920141;20054143;20147294;20338813;20418254;20478380;2065657;21075760;21102635;21205713;21372320;2148207;21779497;21779505;21993244;22569528;22589270;22750304;23069847;23103841;23303910;23443682;23575685;23590306;23684610;23922714;24715725;24743970;24897931;24937142;2515193;25219551;25424900;2555171;25781681;2587265;26085527;2610270;2681215;27600516;28778966;29557506;29786170;2995821;3037072;30942918;31135801;31844290;31848261;32157095;32161166;32365364;32387766;32473103;32983136;33043033;3366248;34509645;34631;35019940;35043685;35051231;35580925;37074911;3755136;3801783;6148751;7513165;7597036;7651724;7809086;7935463;7972015;8007942;8052307;8084588;8086503;8144676;8294403;8314870;8394845;8428971;8483502;8493579;8522976;8527267;8636114;8647804;8665852;8710374;8939933;8947042;9030599;9099679;9108392;9111318;9162089;9422786;9604935;9685210;9766809;9813380;9885561;9927426", "class_list": "", "function": "A murine model of hereditary pulmonary alveolar proteinosis caused by homozygous Csf2ra gene disruption., [RefSeq, PubMed]; CD116+ fetal precursors migrate to the perinatal lung and give rise to human alveolar macrophages., [RefSeq, PubMed]; Expression of granulocyte macrophage-colony stimulating factor and its receptor in the synovium of osteoarthritis patients is negatively correlated with pain., [RefSeq, PubMed]; Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells., [UniProtKB]; MiR-532-3p-CSF2RA Axis as a Key Regulator of Vulnerable Atherosclerotic Plaque Formation., [RefSeq, PubMed]; The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]., [RefSeq]; These data show that loss of membrane GM-CSFRalpha following GM-CSF exposure does not preclude sustained GM-CSF/GM-CSFRalpha signaling and that this receptor plays a key role in ligand clearance. Hence neutrophilic activation via GM-CSFR may play an important role in neutrophilic lung inflammation even in the absence of high GM-CSF levels or GM-CSFRalpha expression., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 9, "disease_count": 3, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A7J003;A8KAM1;B4DW68;J3JS76;J3JS77;O00207;Q14429;Q14430;Q14431;Q16564", "ec_number_list": [], "go_molecular_function": "GO:0017046 peptide hormone binding;GO:0019955 cytokine binding;GO:0038023 signaling receptor activity;GO:0004903 growth hormone receptor activity;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0070195 growth hormone receptor complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT;GO:0019221 cytokine-mediated signaling pathway;GO:0060396 growth hormone receptor signaling pathway;GO:0007259 cell surface receptor signaling pathway via JAK-STAT", "synthesized_glycan_count": 0, "hit_score": 19.6, "record_id": "P15509-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P299-1", "uniprot_id": [ { "id": "COPZ2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P299", "type": "external" } ], "mass": 23548.0, "length": 210, "protein_name": "Coatomer subunit zeta-2", "gene_name": "COPZ2", "organism": "Human", "refseq_name": "coatomer subunit zeta-2", "refseq_ac": [ { "id": "NP_057513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057513", "type": "external" } ], "gene_names_uniprotkb": "COPZ2", "gene_names_refseq": "COPZ2; zeta2-COP", "protein_names_uniprotkb": "Coatomer subunit zeta-2; Zeta-2 COP; Zeta-2-coat protein", "protein_names_refseq": "COPI coat complex subunit zeta 2; coatomer protein complex subunit zeta 2; coatomer subunit zeta-2; nonclathrin coat protein zeta-COP; zeta-2 COP; zeta-2-coat protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51226); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 128, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11056392;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12634853;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18524849;18809720;1898986;19015319;19109418;19151722;19164740;19167404;19296914;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21746916;21844168;22013193;22094269;22304919;23396477;23839779;24119662;24806965;25364732;25436559;25492864;25576301;27846572;29493099;29508533;30315122;31217245;31530632;31848261;33123756;33592498;36010968;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The knockdown of COPZ1, but not of COPZ2 encoding isoform coatomer protein complex zeta2, caused Golgi apparatus collapse, blocked autophagy, and induced apoptosis in both proliferating and nondividing tumor cells., [RefSeq, PubMed]; The solution structure of a truncated form (residues 1-149; zeta-COP149) of human zeta-COP (total 177 residues), is reported., [RefSeq, PubMed]; This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0030133 transport vesicle;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006891 intra-Golgi vesicle-mediated transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q9P299-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UUV7-1", "uniprot_id": [ { "id": "CRTC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UUV7", "type": "external" } ], "mass": 66959.0, "length": 619, "protein_name": "CREB-regulated transcription coactivator 3", "gene_name": "CRTC3", "organism": "Human", "refseq_name": "CREB-regulated transcription coactivator 3 isoform b", "refseq_ac": [ { "id": "NP_001036039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036039", "type": "external" } ], "gene_names_uniprotkb": "CRTC3; TORC3", "gene_names_refseq": "CRTC3; TORC-3; TORC3", "protein_names_uniprotkb": "CREB-regulated transcription coactivator 3; TORC-3; Transducer of CREB protein 3; Transducer of regulated cAMP response element-binding protein 3", "protein_names_refseq": "CREB-regulated transcription coactivator 3 isoform b; transducer of regulated CREB protein 3; transducer of regulated cAMP response element-binding protein (CREB) 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:64784); (R-HSA-2151201); (R-HSA-9707616); (R-HSA-9931509)", "pathway_count": 4, "publication_count": 133, "publication_id_list": "10.1101/2023.09.13.557529;10198158;10381560;10412986;10643692;10713165;11237011;11340167;11387216;11809803;12130498;12356737;12374852;12377782;12511571;12563009;12745923;14506290;14536081;15175654;15454081;15466468;15589160;15665827;15684387;15761026;16079181;16079853;16788062;16809310;16817901;16890199;16908542;16911507;16980408;17031457;17081983;17210223;17437997;17644518;17715127;17923681;18006707;18037887;18215119;18220336;18343819;18669648;18680753;18691976;19001277;19356719;19417006;19690332;19710360;19951946;20068231;20581824;20817722;21479263;21628546;23033494;23186163;23481700;24196956;24715725;25351958;2539258;25505266;25892735;27754849;27846572;27920218;28063628;28111073;28218747;28649982;28832583;28904123;29237092;29242379;29351928;29393594;29437277;29493099;29557506;29632046;29632711;30059200;30315122;30410026;30611118;31217245;31492838;31748741;31844290;32157095;32350084;32354867;32387766;32695117;32938616;32983136;33214551;3345742;33936100;33947275;33968037;33981976;34509645;34846842;35051231;35132862;35251023;35254053;35289036;35513511;36284347;39302247;39531497;39534244;40307207;7629110;7799916;8108407;8333869;8415693;8622974;8887638;9079689;9144434;9178750;9286700", "class_list": "", "function": "BCL3 functions as a repressor of HTLV-1 LTR-mediated transcription through interactions with TORC3, [RefSeq, PubMed]; Morphological and biological properties of silica nanoparticles for CRTC3-siRNA delivery and downregulation of the RGS2 expression in preadipocytes., [RefSeq, PubMed]; These results strongly suggest that TORCs play a key role in linking these external signals to the transcriptional program of adaptive mitochondrial biogenesis by activating PGC-1alpha gene transcription., [RefSeq, PubMed]; This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]; Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Transducer of regulated cyclic AMP-response element-binding protein 3 (TORC3), a co-activator of CREB, is involved in Tax-induced transcriptional activation from the HTLV-I LTR, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "Q6DK61;Q6DK62;Q8NF38;Q9H6U2", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008140 cAMP response element binding protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051289 protein homotetramerization;GO:0071320 cellular response to cAMP;GO:0071878 negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "Q6UUV7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZV1-1", "uniprot_id": [ { "id": "CRIM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZV1", "type": "external" } ], "mass": 113738.0, "length": 1036, "protein_name": "Cysteine-rich motor neuron 1 protein", "gene_name": "CRIM1", "organism": "Human", "refseq_name": "cysteine-rich motor neuron 1 protein precursor", "refseq_ac": [ { "id": "NP_057525", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057525", "type": "external" } ], "gene_names_uniprotkb": "CRIM1; PRO4330; S52", "gene_names_refseq": "CRIM-1; CRIM1; S52", "protein_names_uniprotkb": "Cysteine-rich motor neuron 1 protein; CRIM-1; Cysteine-rich repeat-containing protein S52", "protein_names_refseq": "cysteine rich transmembrane BMP regulator 1 (chordin-like); cysteine-rich motor neuron 1 protein precursor; cysteine-rich motor neuron 1 protein; cysteine-rich repeat-containing protein S52", "tax_id": 9606, "disease": "microphthalmia (Disease Ontology:DOID:10629); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:51232)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10642437;11237011;12464430;12805376;12975309;15340161;18669648;19260139;20112406;23090970;23186163;23584533;24190977;25502872;25813380;27920218;28467828;29242379;29393594;29557506;29607933;29632046;30365943;30459171;31844290;32157095;32350084;32387766;32611418;32938616;33592498;33968037;35289036;36010968;36215666;37340703;37382169;37807311;38665916", "class_list": "", "function": "CRIM1 has a role in capillary formation and maintenance during angiogenesis, [RefSeq, PubMed]; CRIM1 modulates BMP activity by affecting its processing and delivery to the cell surface, [RefSeq, PubMed]; CRIM1 regulates the expression of several epithelial-mesenchymal transition (EMT) related factors and appears to play a role in suppressing migration and invasion through control of EMT., [RefSeq, PubMed]; CircCRIM1 mediates proliferation, migration, and invasion of trophoblast cell through regulating miR-942-5p/IL1RAP axis., [RefSeq, PubMed]; Homozygote CRIM1 variant is associated with thiopurine-induced neutropenia in leukemic patients with both wildtype NUDT15 and TPMT. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its processing and delivery to the cell surface., [UniProtKB, PubMed, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Silencing of long non-coding RNA SDCBP2-AS1/microRNA-656-3p/CRIM1 axis promotes ferroptosis of lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]., [RefSeq]; We propose here a series of intracellular events where CRIM1 regulation of the ERK pathway prevents UV-induced cell proliferation and may play an important role in the in the pathogenesis of pterygium., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 65, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "Q2M2G4;Q59GH0;Q7LCQ5;Q9H318", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0030165 PDZ domain binding;GO:0005010 insulin-like growth factor receptor activity;GO:0005520 insulin-like growth factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0030514 negative regulation of BMP signaling pathway;GO:0045668 negative regulation of osteoblast differentiation;GO:0001558 regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9NZV1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXS0-1", "uniprot_id": [ { "id": "COPA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXS0", "type": "external" } ], "mass": 64771.0, "length": 654, "protein_name": "Collagen alpha-1(XXV) chain", "gene_name": "COL25A1", "organism": "Human", "refseq_name": "collagen alpha-1(XXV) chain isoform 2", "refseq_ac": [ { "id": "NP_115907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115907", "type": "external" } ], "gene_names_uniprotkb": "COL25A1", "gene_names_refseq": "AMY; CFEOM5; CLAC-P; CLACP; CLAC; COL25A1", "protein_names_uniprotkb": "Collagen alpha-1(XXV) chain; AMY; Alzheimer disease amyloid-associated protein; CLAC-P", "protein_names_refseq": "alzheimer disease amyloid-associated protein; collagen alpha-1(XXV) chain isoform 2; collagen alpha-1(XXV) chain; collagen-like Alzheimer amyloid plaque component; collagenous Alzheimer amyloid plaque component", "tax_id": 9606, "disease": "congenital fibrosis of the extraocular muscles 5 (Disease Ontology:DOID:0081020)", "pathway": " (hsa:84570); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-8948216)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10049780;10479448;10551873;10809722;10934207;11013208;11119712;11237011;11577169;11927537;12473679;12475640;12579531;12646579;1323838;14500733;14656069;15005656;15044469;15215182;15257288;15522881;15615705;1577494;15853808;15950618;16300410;16591531;16825197;1704217;17088321;171650;18487197;18622425;19075007;19548013;19693541;2005102;20470363;21593211;2169335;21878990;21935455;21967573;22241472;22382088;2253219;2537292;2543975;2548603;25500261;2551898;26486031;2834383;2845110;3038863;3173483;3223920;32350084;33287899;33968037;35051231;35077597;35251023;38253038;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7890717;8463259;8576151;8920930;8999957;9054364;9092507;9545296;9560306;9582318;9651395", "class_list": "", "function": "CLAC displays features characteristic of a collagen protein, ie. it forms a partly protease-resistant triple-helical structure, exhibits an intermediate affinity for heparin, and is glycosylated; binding domain between CLAC and amyloid beta-peptide, [RefSeq, PubMed]; COL25A1 leads to Alzheimer's disease-like pathology in vivo, [RefSeq, PubMed]; Collagenous Alzheimer amyloid plaque component impacts on the compaction of amyloid-beta plaques. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder., [RefSeq, PubMed]; Suggest that CLAC becomes involved at an intermediate stage in the pathogenesis of Alzheimer's disease by binding to Abeta fibrils, including fibrils formed from peptides with truncated N- or C-termini, and thereby slows their growth, [RefSeq, PubMed]; This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; We highlight phenotypes of the 4 affected children from the 2 reported families: isolated congenital ptosis (one unilateral, one bilateral) and Duane syndrome (one unilateral, one bilateral) with synergistic divergence., [RefSeq, PubMed]; We identified COL25A1 mutations as a cause of autosomal-recessive congenital cranial dysinnervation disorder., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MPZ6;Q9BXR9", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9BXS0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6VY07-1", "uniprot_id": [ { "id": "PACS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6VY07", "type": "external" } ], "mass": 104898.0, "length": 963, "protein_name": "Phosphofurin acidic cluster sorting protein 1", "gene_name": "PACS1", "organism": "Human", "refseq_name": "phosphofurin acidic cluster sorting protein 1", "refseq_ac": [ { "id": "NP_060496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060496", "type": "external" } ], "gene_names_uniprotkb": "PACS1; KIAA1175", "gene_names_refseq": "MRD17; PACS1; SHMS", "protein_names_uniprotkb": "Phosphofurin acidic cluster sorting protein 1; PACS-1", "protein_names_refseq": "cytosolic sorting protein PACS-1; phosphofurin acidic cluster sorting protein 1", "tax_id": 9606, "disease": "Schuurs-Hoeijmakers Syndrome (Disease Ontology:DOID:0070047)", "pathway": " (hsa:55690); (R-HSA-164940)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10707087;11237011;11331585;12526811;14633983;15302935;15569716;15692563;16308564;16977309;17525332;17646382;17855360;18083107;18296443;18669648;18691976;19413330;19651622;20068231;20230923;21406692;22740416;23159249;23186163;23481700;24275569;24715725;25418920;25576301;25645385;25880248;26154972;26375851;26811146;26929215;26992070;27397612;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28860189;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30484775;30779550;30833945;31092671;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33214551;33298915;33369122;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34068396;34087483;34171305;34357683;34433824;34642815;34725712;34932366;35051231;35318648;35494241;35580925;36010968;36210549;36215666;36241641;36284347;37141437;37938771;38665916", "class_list": "", "function": "Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin-coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN. Required for normal ER Ca2+ handling in lymphocytes. Together with WDR37, it plays an essential role in lymphocyte development, quiescence and survival. Required for stabilizing peripheral lymphocyte populations (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. Review article, [RefSeq, PubMed]; Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?, [RefSeq, PubMed]; Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients., [RefSeq, PubMed]; PACS-1 along with HIV-1 nef, has a role in downregulating cell surface MHC-I to the trans-Golgi network and usurping the ARF6 endocytic pathway, [RefSeq, PubMed]; Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6PJY6;Q6PKB6;Q7Z590;Q7Z5W4;Q8N8K6;Q96MW0;Q9NW92;Q9ULP5", "ec_number_list": [], "go_molecular_function": "GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0030137 COPI-coated vesicle", "go_biological_process": "GO:0002260 lymphocyte homeostasis;GO:0072659 protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q6VY07-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXE0-1", "uniprot_id": [ { "id": "CSKI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXE0", "type": "external" } ], "mass": 126783.0, "length": 1202, "protein_name": "Caskin-2", "gene_name": "CASKIN2", "organism": "Human", "refseq_name": "caskin-2 isoform b", "refseq_ac": [ { "id": "NP_001136115", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136115", "type": "external" } ], "gene_names_uniprotkb": "CASKIN2; KIAA1139", "gene_names_refseq": "ANKS5B; CASKIN2", "protein_names_uniprotkb": "Caskin-2; CASK-interacting protein 2", "protein_names_refseq": "caskin-2 isoform b; caskin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57513)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;12040031;16094384;16497976;17081983;18083107;18669648;19651622;19690332;20068231;21328705;23186163;24275569;25645385;26992070;27619958;27920218;28832583;29237092;29393594;29557506;30059200;30429286;30484775;30779550;31154438;31217245;31492838;31530632;31844290;31848261;32157095;32357974;32488085;32574038;32938616;33298915;33936100;33968037;33981976;34087483;34171305;34405274;35051231;35132862;35580925;36010968;36215666;36241641;37938771;38587458", "class_list": "", "function": "Caskin2 is a novel talin- and Abi1-binding protein that promotes cell motility., [RefSeq, PubMed]; This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]., [RefSeq]; While the NMR structure demonstrates that the CASKIN2 SH3 domain is folded, its cleft has suffered two substitutions that prevent it from binding typical polyproline ligands. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 0, "predicted_o_glycosites": 6, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DTT3;B7Z9H1;Q7LG69;Q9ULT1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8WXE0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y600-1", "uniprot_id": [ { "id": "CSAD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y600", "type": "external" } ], "mass": 55023.0, "length": 493, "protein_name": "Cysteine sulfinic acid decarboxylase", "gene_name": "CSAD", "organism": "Human", "refseq_name": "cysteine sulfinic acid decarboxylase isoform 2", "refseq_ac": [ { "id": "NP_001231634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231634", "type": "external" } ], "gene_names_uniprotkb": "CSAD; CSD", "gene_names_refseq": "CSADC; CSAD; CSD; PCAP", "protein_names_uniprotkb": "Cysteine sulfinic acid decarboxylase; 4.1.1.11; 4.1.1.29; Aspartate 1-decarboxylase; Cysteine-sulfinate decarboxylase; Sulfinoalanine decarboxylase", "protein_names_refseq": "P-selectin cytoplasmic tail-associated protein; aspartate 1-decarboxylase; cysteine sulfinic acid decarboxylase isoform 2; cysteine sulfinic acid decarboxylase-related protein; cysteine-sulfinate decarboxylase; sulfinoalanine decarboxylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:51380); (R-HSA-1614558)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10212249;11237011;12871026;16195549;17135237;17581819;18872649;19261609;19625201;22718265;23038267;23413359;236774;23698001;26327310;26437775;27484215;28412453;29055825;29242379;29372909;29393594;31217245;31844290;32156684;32387766;32938616;33298915;33968037;36241641;9070219;9537447", "class_list": "", "function": "Catalyzes the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. The preferred substrate is 3-sulfino-L-alanine. Does not exhibit any decarboxylation activity toward glutamate., [UniProtKB, UniProtKB]; Taurine biosynthesis in vertebrates involves two structurally related PLP-dependent decarboxylases (cysteine sulfinic acid decarboxylase and glutamic acid decarboxylase like 1), [RefSeq, PubMed]; The presence of cysteine inhibited ADC, CSAD and GDC activity., [RefSeq, PubMed]; This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0U4;Q4QQH9;Q9UNJ5;Q9Y601", "ec_number_list": [ { "id": "4.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.29", "type": "external" }, { "id": "4.1.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.11", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0004782 sulfinoalanine decarboxylase activity;GO:0004068 aspartate 1-decarboxylase activity;GO:0016831 carboxy-lyase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0042412 taurine biosynthetic process;GO:0019449 L-cysteine catabolic process to hypotaurine;GO:0019452 L-cysteine catabolic process to taurine;GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9Y600-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULW2-1", "uniprot_id": [ { "id": "FZD10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULW2", "type": "external" } ], "mass": 65336.0, "length": 581, "protein_name": "Frizzled-10", "gene_name": "FZD10", "organism": "Human", "refseq_name": "frizzled-10 precursor", "refseq_ac": [ { "id": "NP_009128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009128", "type": "external" } ], "gene_names_uniprotkb": "FZD10", "gene_names_refseq": "CD350; FZ-10; FZD10; Fz10; FzE7; hFz10", "protein_names_uniprotkb": "Frizzled-10; Fz-10; FzE7; hFz10", "protein_names_refseq": "frizzled 10, seven transmembrane spanning receptor; frizzled family receptor 10; frizzled homolog 10; frizzled-10 precursor; frizzled-10", "tax_id": 9606, "disease": "", "pathway": " (hsa:11211); (R-HSA-373080)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10448064;11237011;11297558;12098667;12559132;15498814;16602827;18801728;19188438;20966082;32933173;32944403;3616618;36210708;36764493;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337;9707618", "class_list": "", "function": "A Possible Role of FZD10 Delivering Exosomes Derived from Colon Cancers Cell Lines in Inducing Activation of Epithelial-Mesenchymal Transition in Normal Colon Epithelial Cell Line. Publication Status: Online-Only, [RefSeq, PubMed]; N6-Methyladenosine-Mediated Up-Regulation of FZD10 Regulates Liver Cancer Stem Cells' Properties and Lenvatinib Resistance Through WNT/beta-Catenin and Hippo Signaling Pathways., [RefSeq, PubMed]; Receptor for Wnt proteins. Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable)., [UniProtKB, UniProtKB]; Targeting fatty acid synthase sensitizes human nasopharyngeal carcinoma cells to radiation via downregulating frizzled class receptor 10., [RefSeq, PubMed]; This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008]., [RefSeq]; [Exosomal FZD10 derived from non-small cell lung cancer cells promotes angiogenesis of human umbilical venous endothelial cells in vitro]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0017147 Wnt-protein binding;GO:0042813 Wnt receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:0046330 positive regulation of JNK cascade;GO:0071300 cellular response to retinoic acid;GO:0030182 neuron differentiation;GO:0060070 canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9ULW2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43174-1", "uniprot_id": [ { "id": "CP26A_HUMAN", "url": "https://www.uniprot.org/uniprot/O43174", "type": "external" } ], "mass": 56199.0, "length": 497, "protein_name": "Cytochrome P450 26A1", "gene_name": "CYP26A1", "organism": "Human", "refseq_name": "cytochrome P450 26A1 isoform 1", "refseq_ac": [ { "id": "NP_000774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000774", "type": "external" } ], "gene_names_uniprotkb": "CYP26A1; CYP26; P450RAI1", "gene_names_refseq": "CP26; CYP26A1; CYP26; P450RAI1; P450RAI", "protein_names_uniprotkb": "Cytochrome P450 26A1; 1.14.13.-; CYP26A1; Cytochrome P450 retinoic acid-inactivating 1; Cytochrome P450RAI; Retinoic acid 4-hydroxylase; Retinoic acid-metabolizing cytochrome; hP450RAI", "protein_names_refseq": "P450, retinoic acid-inactivating, 1; cytochrome P450 26A1 isoform 1; cytochrome P450 26A1; cytochrome P450 retinoic acid-inactivating 1; cytochrome P450, family 26, subfamily A, polypeptide 1; cytochrome P450, subfamily XXVIA, polypeptide 1; cytochrome P450RAI; hP450RAI; retinoic acid 4-hydroxylase; retinoic acid-metabolizing cytochrome", "tax_id": 9606, "disease": "hereditary systemic amyloidosis 2 (Disease Ontology:DOID:0050636); brain small vessel disease (Disease Ontology:DOID:0112313); keratoconus (Disease Ontology:DOID:10126); disseminated intravascular coagulation (Disease Ontology:DOID:11247); thrombocytopenia (Disease Ontology:DOID:1588); congenital afibrinogenemia (Disease Ontology:DOID:2236); brain ischemia (Disease Ontology:DOID:2316); thrombophilia (Disease Ontology:DOID:2452); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); holoprosencephaly (Disease Ontology:DOID:4621); pancreatitis (Disease Ontology:DOID:4989); myocardial infarction (Disease Ontology:DOID:5844); Barrett's adenocarcinoma (Disease Ontology:DOID:7941); Crohn's disease (Disease Ontology:DOID:8778); actinic keratosis (Disease Ontology:DOID:8866); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); pulmonary emphysema (Disease Ontology:DOID:9675); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:1592); (R-HSA-211916); (R-HSA-5365859)", "pathway_count": 3, "publication_count": 45, "publication_id_list": "10329026;10369264;10823918;10839978;11007799;11012668;11237011;11245473;12036956;12226107;12680773;14532297;14596915;17646648;18039331;18805086;1889753;20801113;21529158;21621639;21851338;22019272;22020119;23220587;26154972;26937021;2935875;29557506;3013304;31419517;31465460;32157095;33197841;33438367;34171305;35580925;35707714;8493914;8679605;9228017;9228021;9677409;9705317;9716180;9826557", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:22020119, PubMed:9228017, PubMed:9716180). RAs exist as at least four different isomers: all-trans-RA (atRA), 9-cis-RA, 13-cis-RA, and 9,13-dicis-RA, where atRA is considered to be the biologically active isomer, although 9-cis-RA and 13-cis-RA also have activity (Probable). Catalyzes the hydroxylation of atRA primarily at C-4 and C-18, thereby contributing to the regulation of atRA homeostasis and signaling (PubMed:22020119, PubMed:9228017, PubMed:9716180). Hydroxylation of atRA limits its biological activity and initiates a degradative process leading to its eventual elimination (Probable). Involved in the convertion of atRA to all-trans-4-oxo-RA. Able to metabolize other RAs such as 9-cis, 13-cis and 9,13-di-cis RA (By similarity) (PubMed:9228017). Can oxidize all-trans-13,14-dihydroretinoate (DRA) to metabolites which could include all-trans-4-oxo-DRA, all-trans-4-hydroxy-DRA, all-trans-5,8-epoxy-DRA, and all-trans-18-hydroxy-DRA (By similarity). May play a role in the oxidative metabolism of xenobiotics such as tazarotenic acid (PubMed:26937021)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; A novel Cytochrome P450 26A1 expressing NK cell subset at the mouse maternal-foetal interface., [RefSeq, PubMed]; CYP26A1 Is a Novel Cancer Biomarker of Pancreatic Carcinoma: Evidence from Integration Analysis and In Vitro Experiments. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a novel CYP26A1 mutation in a Chinese family with congenital microtia., [RefSeq, PubMed]; The combined effects of the novel CYP26 single nucleotide polymorphisms -environment approach may predict the risk of occurrence of oral malignant disorders. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; This review highlights the current knowledge of structure-function of CYP26 enzymes and focuses on their role in human retinoid metabolism in different tissues. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 20, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KNI4;Q5VXH9;Q5VXI0", "ec_number_list": [ { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" } ], "go_molecular_function": "GO:0008401 retinoic acid 4-hydroxylase activity;GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0001972 retinoic acid binding", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006766 vitamin metabolic process;GO:0001822 kidney development;GO:0007417 central nervous system development;GO:0042573 retinoic acid metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "O43174-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05108-1", "uniprot_id": [ { "id": "CP11A_HUMAN", "url": "https://www.uniprot.org/uniprot/P05108", "type": "external" } ], "mass": 60102.0, "length": 521, "protein_name": "Cholesterol side-chain cleavage enzyme, mitochondrial", "gene_name": "CYP11A1", "organism": "Human", "refseq_name": "cholesterol side-chain cleavage enzyme, mitochondrial isoform a precursor", "refseq_ac": [ { "id": "NP_000772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000772", "type": "external" } ], "gene_names_uniprotkb": "CYP11A1; CYP11A", "gene_names_refseq": "CYP11A1; CYP11A; CYPXIA1; P450SCC", "protein_names_uniprotkb": "Cholesterol side-chain cleavage enzyme, mitochondrial; 1.14.15.6; CYPXIA1; Cholesterol desmolase; Cytochrome P450 11A1; Cytochrome P450(scc)", "protein_names_refseq": "cholesterol 20-22 desmolase; cholesterol monooxygenase (side-chain cleaving); cholesterol side-chain cleavage enzyme, mitochondrial isoform a precursor; cholesterol side-chain cleavage enzyme, mitochondrial; cytochrome P450 11A1; cytochrome P450 family 11 subfamily A polypeptide 1; cytochrome P450(scc); cytochrome P450, subfamily XIA (cholesterol side chain cleavage); steroid 20-22-lyase", "tax_id": 9606, "disease": "congenital adrenal insufficiency (Disease Ontology:DOID:0050546); congenital adrenal hyperplasia (Disease Ontology:DOID:0050811); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); status epilepticus (Disease Ontology:DOID:1824); hypogonadism (Disease Ontology:DOID:1924); nephrosis (Disease Ontology:DOID:2527); IgA glomerulonephritis (Disease Ontology:DOID:2986); hyperglycemia (Disease Ontology:DOID:4195); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:1583); (R-HSA-196108); (R-HSA-211976); (R-HSA-5579026)", "pathway_count": 4, "publication_count": 45, "publication_id_list": "10391209;10588945;11237011;11502818;11555828;12161514;15042513;15507506;16705068;1708392;1741400;18182448;1849407;19116240;19661213;20149798;21159840;21636783;2256920;22772592;23481700;2419119;25542846;25818881;2592361;29557506;2981667;3001071;3024157;3038528;3038854;31848261;3487786;35051231;37552904;37732623;38006947;38146648;39113698;8307574;8619637;8645003;9536209;9578606;9915832", "class_list": "", "function": "A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones (PubMed:21636783). Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R-hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal (PubMed:21636783). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:21636783)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Exploring the impact of CYP11A1's missense SNPs on the interaction between CYP11A1 and cholesterol: A comprehensive structural analysis and MD simulation study., [RefSeq, PubMed]; Helicobacter pylori promotes gastric cancer through CagA-mediated mitochondrial cholesterol accumulation by targeting CYP11A1 redistribution. Publication Status: Online-Only, [RefSeq, PubMed]; Placental DNA methylation analysis of selective fetal growth restriction in monochorionic twins reveals aberrant methylated CYP11A1 gene for fetal growth restriction., [RefSeq, PubMed]; The Role of DNMT1 and C/EBPalpha in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts., [RefSeq, PubMed]; The multistep oxidation of cholesterol to pregnenolone by human cytochrome P450 11A1 is highly processive., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8D5;B3KPU8;G3XAD7;Q15081;Q16805;Q8N1A7", "ec_number_list": [ { "id": "1.14.15.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.6", "type": "external" }, { "id": "1.18.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.18.1.6", "type": "external" }, { "id": "1.18.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.18.1.-", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0008386 cholesterol monooxygenase (side-chain-cleaving) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0042359 vitamin D metabolic process;GO:0008203 cholesterol metabolic process;GO:0006700 C21-steroid hormone biosynthetic process;GO:0016125 sterol metabolic process;GO:0006704 glucocorticoid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P05108-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVB6-1", "uniprot_id": [ { "id": "CTF18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVB6", "type": "external" } ], "mass": 107383.0, "length": 975, "protein_name": "Chromosome transmission fidelity protein 18 homolog", "gene_name": "CHTF18", "organism": "Human", "refseq_name": "chromosome transmission fidelity protein 18 homolog", "refseq_ac": [ { "id": "NP_071375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071375", "type": "external" } ], "gene_names_uniprotkb": "CHTF18; C16orf41; CTF18", "gene_names_refseq": "C16orf41; C321D2.2; C321D2.3; C321D2.4; CHL12; CHTF18; Ctf18; RUVBL", "protein_names_uniprotkb": "Chromosome transmission fidelity protein 18 homolog; CHL12; hCTF18", "protein_names_refseq": "CTF18, chromosome transmission fidelity factor 18 homolog; chromosome transmission fidelity protein 18 homolog; homolog of yeast CHL12; some homology with holliday junction DNA helicase RUVB like", "tax_id": 9606, "disease": "", "pathway": " (hsa:63922); (R-HSA-174411)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10329413;11237011;12171929;12766176;12930902;15066120;15302935;16964243;17525332;17545166;18077418;18452278;18491316;18499658;18669648;18691976;19413330;19651622;19664994;19664995;19690332;19691289;1974050;20058876;20068231;20227374;21406692;23186163;24038470;24115439;24714562;24715725;25892735;26154972;26992070;27175616;27397612;27846572;27862975;27920218;28063628;28159928;28199690;28832583;28834231;28904123;29242379;29557506;29632046;29769354;30315122;30429286;31217245;31844290;31998317;32157095;32265295;32387766;32897882;32938616;33141586;33298915;33592498;33912179;33968037;34019948;34932366;35051231;35580925;36010968;37099849;37944988;38669181;39106866;40914422;8954124;9822671", "class_list": "", "function": "CTF18 forms a complex with RPA when replication stress is elicited by hydroxyurea treatment or UV exposure during S phase. The interaction kinetics between CTF18 and RPA is positively associated with the phosphorylation status of Chk1., [RefSeq, PubMed]; CTF18-RFC contributes to cellular tolerance against chain-terminating nucleoside analogs (CTNAs) in cooperation with proofreading exonuclease activity of DNA polymerase epsilon., [RefSeq, PubMed]; Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single-stranded and primed DNAs and has weak ATPase activity that is stimulated by the presence of primed DNA, replication protein A (RPA) and by proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP-dependent loading of PCNA onto primed and gapped DNA. Interacts with and stimulates DNA polymerase POLH. During DNA repair synthesis, involved in loading DNA polymerase POLE at the sites of local damage (PubMed:20227374)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Cryo-EM reveals a nearly complete PCNA loading process and unique features of the human alternative clamp loader CTF18-RFC., [RefSeq, PubMed]; HCTF18, hCTF8, and hDCC1 interact with each other as well as with the p38 subunit of RFC, [RefSeq, PubMed]; Human CTF18-RFC clamp-loader complexed with non-synthesising POLE efficiently loads the PCNA sliding clamp., [RefSeq, PubMed]; Identification as proliferating cell nuclear antigen-binding protein, [RefSeq, PubMed]; The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA., [RefSeq, PubMed]; The proofreading exonuclease of leading-strand DNA polymerase epsilon prevents replication fork collapse at broken template strands., [RefSeq, PubMed]; This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7ZBA2;D3DU68;Q7Z6Y4;Q7Z6Y6;Q9BR83;Q9BRG5;Q9H7K3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0031390 Ctf18 RFC-like complex", "go_biological_process": "GO:0006260 DNA replication;GO:1900264 positive regulation of DNA-directed DNA polymerase activity", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q8WVB6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EN9-1", "uniprot_id": [ { "id": "REX1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EN9", "type": "external" } ], "mass": 22599.0, "length": 201, "protein_name": "Required for excision 1-B domain-containing protein", "gene_name": "REX1BD", "organism": "Human", "refseq_name": "required for excision 1-B domain-containing protein isoform 1", "refseq_ac": [ { "id": "NP_001093888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093888", "type": "external" } ], "gene_names_uniprotkb": "REX1BD; C19orf60", "gene_names_refseq": "C19orf60; REX1BD", "protein_names_uniprotkb": "Required for excision 1-B domain-containing protein", "protein_names_refseq": "required for excision 1-B domain-containing protein isoform 1; required for excision 1-B domain-containing protein; uncharacterized protein C19orf60", "tax_id": 9606, "disease": "", "pathway": " (hsa:55049)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;19770013;21872626;23481700;24714562;26811146;26992070;27862975;28904123;29437277;29493099;29557506;30315122;30410026;30429286;31217245;31844290;32157095;32387766;32502341;32983136;33592498;33691108;33717175;33912179;33968037;34087483;34171305;35051231;35318648;35580925;36215666;36284347;37938771;38679759", "class_list": "", "function": "A human protein of unknown function FLJ20850 interacted specifically with deletion mutant hepatitis B core proteins., [RefSeq, PubMed]; Heterochromatin repeat organization at an individual level: Rex1BD and the 14-3-3 protein coordinate to shape the epigenetic landscape within heterochromatin repeats. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PAS0;Q8NAX4;Q9NWI0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q96EN9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NEN9-1", "uniprot_id": [ { "id": "CX065_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NEN9", "type": "external" } ], "mass": 21305.0, "length": 183, "protein_name": "Uncharacterized protein CXorf65", "gene_name": "CXorf65", "organism": "Human", "refseq_name": "uncharacterized protein CXorf65", "refseq_ac": [ { "id": "NP_001020436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020436", "type": "external" } ], "gene_names_uniprotkb": "CXorf65", "gene_names_refseq": "CXorf65", "protein_names_uniprotkb": "Uncharacterized protein CXorf65", "protein_names_refseq": "uncharacterized protein CXorf65", "tax_id": 9606, "disease": "", "pathway": " (hsa:158830)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;33141586", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NEN9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV87-1", "uniprot_id": [ { "id": "CNPD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV87", "type": "external" } ], "mass": 45456.0, "length": 410, "protein_name": "Protein CNPPD1", "gene_name": "CNPPD1", "organism": "Human", "refseq_name": "protein CNPPD1", "refseq_ac": [ { "id": "NP_001308318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308318", "type": "external" } ], "gene_names_uniprotkb": "CNPPD1; C2orf24; CDABP0125; CGI-57", "gene_names_refseq": "C2orf24; CGI-57; CNPPD1", "protein_names_uniprotkb": "Protein CNPPD1; Cyclin Pas1/PHO80 domain-containing protein 1", "protein_names_refseq": "cyclin Pas1/PHO80 domain-containing protein 1; protein CNPPD1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27013)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17074750;22424782;22645359;23481700;24366607;24715725;25418920;25469497;25576301;25880248;26154972;26375851;26929215;26992070;27600516;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30484775;30524438;31092671;31217245;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33936100;33968037;34087483;34171305;34211107;34509645;34561969;35051231;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RC77;O75548;Q9H4N0;Q9UQN0", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane;GO:0000307 cyclin-dependent protein kinase holoenzyme complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9BV87-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60494-1", "uniprot_id": [ { "id": "CUBN_HUMAN", "url": "https://www.uniprot.org/uniprot/O60494", "type": "external" } ], "mass": 398736.0, "length": 3623, "protein_name": "Cubilin", "gene_name": "CUBN", "organism": "Human", "refseq_name": "cubilin precursor", "refseq_ac": [ { "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072", "type": "external" } ], "gene_names_uniprotkb": "CUBN; IFCR", "gene_names_refseq": "CUBN; IFCR; IGS1; IGS; MGA1; gp280", "protein_names_uniprotkb": "Cubilin; 460 kDa receptor; Intestinal intrinsic factor receptor; Intrinsic factor-cobalamin receptor; Intrinsic factor-vitamin B12 receptor", "protein_names_refseq": "460 kDa receptor; cubilin (intrinsic factor-cobalamin receptor); cubilin precursor; intestinal intrinsic factor receptor; intrinsic factor-vitamin B12 receptor", "tax_id": 9606, "disease": "abdominal obesity-metabolic syndrome 4 (Disease Ontology:DOID:0080945); pre-eclampsia (Disease Ontology:DOID:10591); megaloblastic anemia (Disease Ontology:DOID:13382); coronary artery disease (Disease Ontology:DOID:3393); kidney disease (Disease Ontology:DOID:557); proteinuria, chronic benign (MONDO:MONDO:0030042)", "pathway": " (hsa:8029); (R-HSA-196791); (R-HSA-3359462); (R-HSA-3359463); (R-HSA-8964011); (R-HSA-9758881)", "pathway_count": 6, "publication_count": 96, "publication_id_list": "10052453;10080186;10371504;10518789;10887099;11012668;11085925;11234559;11237011;11284697;11561168;11606717;11717447;11799400;11856765;12227689;12590260;12788804;12855575;12867411;13828999;13852753;14576052;15465040;15647825;15728261;16959974;17124247;17652309;17668238;17954916;17990953;19136951;19473635;20237569;21248752;21355061;21595846;21849106;22547309;22564762;22631584;22877430;22879719;22900303;22918710;22922874;23114252;23481700;23857223;24101867;24156255;24366607;24569127;25363733;25645385;26434738;26748501;26791533;27250744;27456980;27543614;27913313;28005175;28206978;28841848;29402915;29557506;29671580;30429286;30459171;30523278;30777892;31092671;31613795;31844290;32387766;32938616;33845046;34411563;35051231;35580925;36266725;36926036;37074911;37594671;38008818;38488435;4001945;7768901;8506296;8679605;8706697;9211901;9572993;9821970", "class_list": "", "function": "Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]., [RefSeq]; Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake (PubMed:10371504, PubMed:11606717, PubMed:11717447, PubMed:14576052, PubMed:9572993). Acts together with LRP2 to mediate endocytosis of high-density lipoproteins, GC, hemoglobin, ALB, TF and SCGB1A1. Acts together with AMN to mediate endocytosis of the CBLIF-cobalamin complex (PubMed:14576052, PubMed:9572993). Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the CBLIF-cobalamin complex. Ligand binding requires calcium (PubMed:9572993). Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans. Publication Status: Online-Only, [RefSeq, PubMed]; Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin?, [RefSeq, PubMed]; Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria., [RefSeq, PubMed]; Novel pathogenic variants in CUBN uncouple proteinuria from renal function. Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea., [RefSeq, PubMed]", "predicted_glycosites": 25, "predicted_n_glycosites": 25, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 22, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 15, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 22, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 22, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 304, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 173, "disease_count": 6, "glyco_site_count": 53, "binding_glycan_count": 0, "secondary_ac_list": "B0YIZ4;Q5VTA6;Q96RU9", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0031419 cobalamin binding;GO:0038024 cargo receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0042359 vitamin D metabolic process;GO:0008203 cholesterol metabolic process;GO:0015031 protein transport;GO:0001894 tissue homeostasis;GO:0006898 receptor-mediated endocytosis", "synthesized_glycan_count": 0, "hit_score": 29.8, "record_id": "O60494-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14548-1", "uniprot_id": [ { "id": "CO72L_HUMAN", "url": "https://www.uniprot.org/uniprot/O14548", "type": "external" } ], "mass": 12615.0, "length": 114, "protein_name": "Cytochrome c oxidase subunit 7A2-like, mitochondrial", "gene_name": "COX7A2L", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 7A2-like, mitochondrial isoform a", "refseq_ac": [ { "id": "NP_001305965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305965", "type": "external" } ], "gene_names_uniprotkb": "COX7A2L; COX7AR; COX7RP; SCAF1; SCAFI", "gene_names_refseq": "COX7A2L; COX7AR; COX7RP; EB1; SCAF1; SCAFI; SIG81", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 7A2-like, mitochondrial; COX7a-related protein; Cytochrome c oxidase subunit 7A-related protein; Cytochrome c oxidase subunit VIIa-related protein; EB1; Supercomplex assembly factor 1", "protein_names_refseq": "COX7a-related protein; cytochrome c oxidase subunit 7A-related protein, mitochondrial; cytochrome c oxidase subunit 7A2-like, mitochondrial isoform a; cytochrome c oxidase subunit 7A2-like, mitochondrial; cytochrome c oxidase subunit VII-related protein; cytochrome c oxidase subunit VIIa polypeptide 2 like; cytochrome c oxidase subunit VIIa-related protein; estrogen receptor binding CpG island; supercomplex assembly factor 1", "tax_id": 9606, "disease": "cholelithiasis (Disease Ontology:DOID:10211); pancreatic cancer (Disease Ontology:DOID:1793); epilepsy (Disease Ontology:DOID:1826); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9167); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 185, "publication_id_list": "10327278;10329961;10335655;10716435;10745013;10980602;11029283;11034341;11156535;11237011;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;186667;18692468;19113821;19439913;19487573;19503089;19608861;19690164;19822145;19968714;20068231;20080666;20182617;20351271;20378837;20929863;21750704;21958598;22342701;22363791;22427940;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24714562;24718924;25418920;25502872;25564869;25576301;25579166;25645385;25880248;25926683;25959673;26154972;26321642;26652033;26728094;26811146;26992070;27452731;27545886;27693358;27846572;27920218;28082314;28199844;28218747;28330871;28649982;28698372;28832583;28834231;28904123;29154948;29242379;29393594;29437277;29493099;29508533;29557506;29632711;30315122;30410026;30428348;30429286;30779550;31023583;31154438;31217245;31222486;31530632;31536960;31611695;31844290;31848261;32157095;32161166;32317297;32357974;32375044;32502341;32897882;32938616;32983136;33123756;33298915;33392160;33537174;33592498;33691108;33717175;33727070;33912179;33936100;33968037;33981976;34087483;34171305;3427020;34357683;34561969;3475708;34932366;34969438;35051231;35318648;35580925;35750769;36198313;36241641;36253618;36284347;37938771;4288886;5666113;6094553;7979252;7989588;8119488;9418891;9843204;9878551;9926927", "class_list": "", "function": "Assembly factor that mediates the formation of some mitochondrial respiratory supercomplexes (respirasomes), thereby promoting oxidative phosphorylation and energy metabolism (PubMed:27545886, PubMed:30428348, PubMed:33727070, PubMed:36198313). Acts as a molecular adapter that associates with both mitochondrial respiratory complexes III (CIII) and IV (CIV), promoting their association (PubMed:27545886, PubMed:36198313). Mediates the formation of various mitochondrial respiratory supercomplexes, such as MCIII(2)IV(2), composed of two CIII and two CIV, and the CS-respirasome (MCI(1)III(2)IV(2)), composed of one CI, two CIII and two CIV (PubMed:27545886, PubMed:30428348). Not involved in the formation of the canonical respirasome (MCI(1)III(2)IV(1)), composed of one CI, two CIII and one CIV (By similarity). The formation of different respirasomes is important for cell adaptation to oxygen conditions and prevent metabolic exhaustion: supercomplexes mediated by COX7A2L/SCAF1 are required to maintain oxidative phosphorylation upon low oxygen conditions and promote metabolic rewiring toward glycolysis (PubMed:36198313)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; COX7A2L establishes a regulatory checkpoint for the biogenesis of Complex III and specific supercomplexes., [RefSeq, PubMed]; COX7A2L genetic variants determine cardiorespiratory fitness in mice and human., [RefSeq, PubMed]; Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9P118", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0004129 cytochrome-c oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0097250 mitochondrial respirasome assembly", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "O14548-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4M1-1", "uniprot_id": [ { "id": "CTL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4M1", "type": "external" } ], "mass": 73783.0, "length": 653, "protein_name": "Choline transporter-like protein 3", "gene_name": "SLC44A3", "organism": "Human", "refseq_name": "choline transporter-like protein 3 isoform 7", "refseq_ac": [ { "id": "NP_001288008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288008", "type": "external" } ], "gene_names_uniprotkb": "SLC44A3; CTL3; PRO1115", "gene_names_refseq": "CTL3; SLC44A3", "protein_names_uniprotkb": "Choline transporter-like protein 3; Solute carrier family 44 member 3", "protein_names_refseq": "choline transporter-like protein 3 isoform 7; choline transporter-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:126969); (R-HSA-1483191); (R-HSA-9958517)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "10100195;10191259;10677542;10893425;11068039;11237011;11420179;11698453;12055623;12216837;12221122;12975309;14973250;15175005;15715662;15911624;17007874;17158099;17491011;17561512;18694939;19915674;20338778;21248752;21926997;23328280;23901139;24715725;24732803;24828044;26005868;26048993;26945070;28821867;28832583;3057511;31844290;32157095;33537174;34185709;35051231;36010968;38674343;9593753", "class_list": "", "function": "Choline transporter., [UniProtKB, UniProtKB, UniProtKB]; Genome-Wide Analysis of Exertional Rhabdomyolysis in Sickle Cell Trait Positive African Americans. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DVY4;B4E1M4;B7ZA08;E9PJH2;E9PJY8;Q6UWT1;Q7Z6C5;Q9BWY7", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015220 choline transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0015721 bile acid and bile salt transport;GO:0006656 phosphatidylcholine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q8N4M1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36383-1", "uniprot_id": [ { "id": "CXG1_HUMAN", "url": "https://www.uniprot.org/uniprot/P36383", "type": "external" } ], "mass": 45470.0, "length": 396, "protein_name": "Gap junction gamma-1 protein", "gene_name": "GJC1", "organism": "Human", "refseq_name": "gap junction gamma-1 protein", "refseq_ac": [ { "id": "NP_001073852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073852", "type": "external" } ], "gene_names_uniprotkb": "GJC1; GJA7", "gene_names_refseq": "CX45; GJA7; GJC1", "protein_names_uniprotkb": "Gap junction gamma-1 protein; Connexin-45; Cx45; Gap junction alpha-7 protein", "protein_names_refseq": "CTC-296K1.4; connexin-45; gap junction alpha-7 protein; gap junction gamma-1 protein; gap junction protein, gamma 1, 45kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:10052); (R-HSA-112303); (R-HSA-190861)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "10191254;10462698;11237011;12881038;14597722;15536180;17200141;18452278;1850831;19864490;20930146;24077100;24454290;25892735;26375851;27452731;28218747;28514659;29242379;29437277;29557506;31217245;31844290;31992625;32157095;32938616;33003547;33429106;33592498;33912179;33936100;34357683;35051231;36010968;37684404;40010341;7929580;7966354", "class_list": "", "function": "Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease., [RefSeq, PubMed]; Identification of Cx45 as a Major Component of GJs in HeLa Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells. Forms homotypic and heterotypic channels gated by transjunctional voltage (By similarity). Involved in intercellular innate immune signaling. Mediates translocation of 2',3'-cGAMP and 2',5'-oligoadenylates (2-5A) second messengers from virus-infected cells to macrophages and uninfected neighboring cells to propagate and amplify the antiviral immune response (PubMed:24077100, PubMed:31992625, PubMed:40010341)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The role of the Cx43/Cx45 gap junction voltage gating on wave propagation and arrhythmogenic activity in cardiac tissue. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KW68;Q4VAY0", "ec_number_list": [], "go_molecular_function": "GO:0005216 monoatomic ion channel activity;GO:0086020 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling;GO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling;GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0014704 intercalated disc;GO:0005921 gap junction;GO:0005922 connexin complex", "go_biological_process": "GO:0006936 muscle contraction;GO:0007267 cell-cell signaling;GO:0045087 innate immune response;GO:0007043 cell-cell junction assembly;GO:0086014 atrial cardiac muscle cell action potential", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P36383-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16082-1", "uniprot_id": [ { "id": "HSPB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16082", "type": "external" } ], "mass": 20233.0, "length": 182, "protein_name": "Heat shock protein beta-2", "gene_name": "HSPB2", "organism": "Human", "refseq_name": "heat shock protein beta-2", "refseq_ac": [ { "id": "NP_001532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001532", "type": "external" } ], "gene_names_uniprotkb": "HSPB2", "gene_names_refseq": "HSP27; HSPB2; Hs.78846; LOH11CR1K; MKBP", "protein_names_uniprotkb": "Heat shock protein beta-2; DMPK-binding protein; Heat shock protein family B member 2; HspB2; MKBP", "protein_names_refseq": "DMPK-binding protein; heat shock 27kDa protein 2; heat shock protein beta-2; heat shock protein family B member 2; heat-shock protein beta-2", "tax_id": 9606, "disease": "adult-onset myofibrillar myopathy 2A (Disease Ontology:DOID:0080093)", "pathway": " (hsa:3316)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "19464326;25576301;32157095;36215666;36768927;36931492;37606039;37797796;8227983;9344664;9490724", "class_list": "", "function": "Evaluation of the Small Heat Shock Protein Family Members HSPB2 and HSPB3 in Bladder Cancer Prognosis and Progression. Publication Status: Online-Only, [RefSeq, PubMed]; HSP-27 and HSP-70 negatively regulate protective defence responses from macrophages during mycobacterial infection., [RefSeq, PubMed]; HSPB2 facilitates neural regeneration through autophagy for sensorimotor recovery after traumatic brain injury. Publication Status: Online-Only, [RefSeq, PubMed]; May regulate the kinase DMPK., [UniProtKB, PubMed]; Phosphorylated Hsp27 promotes adriamycin resistance in breast cancer cells through regulating dual phosphorylation of c-Myc., [RefSeq, PubMed]; The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The protein is expressed preferentially in the heart and skeletal muscle. This protein regulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6I9U7", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0051082 unfolded protein binding;GO:0005212 structural constituent of eye lens", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0009408 response to heat;GO:0042026 protein refolding;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q16082-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UI47-1", "uniprot_id": [ { "id": "CTNA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UI47", "type": "external" } ], "mass": 99809.0, "length": 895, "protein_name": "Catenin alpha-3", "gene_name": "CTNNA3", "organism": "Human", "refseq_name": "catenin alpha-3 isoform a", "refseq_ac": [ { "id": "NP_001120856", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120856", "type": "external" } ], "gene_names_uniprotkb": "CTNNA3", "gene_names_refseq": "ARVD13; CTNNA3; VR22", "protein_names_uniprotkb": "Catenin alpha-3; Alpha T-catenin; Cadherin-associated protein", "protein_names_refseq": "alpha-T-catenin; alpha-catenin-like protein; catenin (cadherin-associated protein), alpha 3; catenin alpha-3 isoform a", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); congenital muscular dystrophy (Disease Ontology:DOID:0050557); complex cortical dysplasia with other brain malformations 13 (Disease Ontology:DOID:0061144); autosomal dominant intellectual developmental disorder 13 (Disease Ontology:DOID:0070043); spinal muscular atrophy with lower extremity predominant 1 (Disease Ontology:DOID:0070351); esophageal atresia/tracheoesophageal fistula (Disease Ontology:DOID:0080171); childhood-onset asthma (Disease Ontology:DOID:0080815); occupational asthma (Disease Ontology:DOID:0080820); arrhythmogenic right ventricular dysplasia 13 (Disease Ontology:DOID:0110084); Charcot-Marie-Tooth disease axonal type 2O (Disease Ontology:DOID:0110175); Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); epilepsy (Disease Ontology:DOID:1826); asthma (Disease Ontology:DOID:2841); nervous system disease (Disease Ontology:DOID:863)", "pathway": " (hsa:29119)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;11590244;12596047;14559775;15075440;15302915;17081983;17535849;18318008;18452278;18491316;23136403;23481700;24275569;28228285;28801652;28904123;30379171;31154438;31492838;33298915;33592498;33968037;34087483;34405274;34717601;35051231;37126683", "class_list": "", "function": "Alpha-T catenin gene has variants which influence Abeta42 and contribute to the previously reported linkage for plasma Abeta42 in late-onset Alzheimer's disease families., [RefSeq, PubMed]; CTNNA3 genetic polymorphism may be a new genetic signal of type 2 diabetes in the Chinese Han population: a case control study. Publication Status: Online-Only, [RefSeq, PubMed]; G allele of rs7903491 in CTNNA3 is a risk factor for essential tremor in Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; GATA-4 and MEF2C transcription factors transactivate the alphaT-catenin gene CTNNA3 in a tissue-specific manner. Publication Status: Online-Only, [RefSeq, PubMed]; Gene localized on chromosome 10q21 and is 1,776 kb in length; mutation screening of all 18 exons of the CTNNA3 gene in a family showing dilated cardiomyopathy (DCM)linkage to the 10q21-q23 locus, however, has not detected any DCM-linked CTNNA3 mutations, [RefSeq, PubMed]; May be involved in formation of stretch-resistant cell-cell adhesion complexes., [UniProtKB, PubMed]; Proteomics and phosphoproteomics of failing human left ventricle identifies dilated cardiomyopathy-associated phosphorylation of CTNNA3., [RefSeq, PubMed]; Results suggest a causal relationship between CTNNA3 mutations and arrhythmogenic right ventricular cardiomyopathy, [RefSeq, PubMed]; This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]., [RefSeq]; We found no association between CTNNA3 and Alzheimer disease in subjects showing linkage to chromosome 10, nor were these SNPs associated with Abeta deposition in brain. CTNNA3 is unlikely to account for the susceptibility locus on chromosome 10, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 59, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5VSR2;Q6P056", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005912 adherens junction;GO:0030027 lamellipodium;GO:0005916 fascia adherens;GO:0030057 desmosome", "go_biological_process": "GO:0016477 cell migration;GO:0086091 regulation of heart rate by cardiac conduction;GO:0098609 cell-cell adhesion;GO:0098911 regulation of ventricular cardiac muscle cell action potential;GO:0086073 bundle of His cell-Purkinje myocyte adhesion involved in cell communication", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9UI47-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10145-1", "uniprot_id": [ { "id": "IL8_HUMAN", "url": "https://www.uniprot.org/uniprot/P10145", "type": "external" } ], "mass": 11098.0, "length": 99, "protein_name": "Interleukin-8", "gene_name": "CXCL8", "organism": "Human", "refseq_name": "interleukin-8 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000575", "type": "external" } ], "gene_names_uniprotkb": "CXCL8; IL8", "gene_names_refseq": "CXCL8; GCP-1; GCP1; IL8; LECT; LUCT; LYNAP; MDNCF; MONAP; NAF; NAP-1; NAP1; SCYB8", "protein_names_uniprotkb": "Interleukin-8; (Ala-IL-8)77; (Ser-IL-8)72; C-X-C motif chemokine 8; Chemokine (C-X-C motif) ligand 8; Emoctakin; GCP-1; GCP/IL-8 protein III; GCP/IL-8 protein II; GCP/IL-8 protein IV; GCP/IL-8 protein I; GCP/IL-8 protein VI; GCP/IL-8 protein V; Granulocyte chemotactic protein 1; IL-8(1-77); IL-8; IL8/NAP1 form III; IL8/NAP1 form II; IL8/NAP1 form IV; IL8/NAP1 form I; IL8/NAP1 form VI; IL8/NAP1 form V; LYNAP; Lymphocyte-derived neutrophil-activating factor; MDNCF-b; MDNCF-c; MDNCF; MONAP; Monocyte-derived neutrophil chemotactic factor; Monocyte-derived neutrophil-activating peptide; NAF; NAP-1; Neutrophil-activating factor; Neutrophil-activating protein 1; Protein 3-10C; T-cell chemotactic factor", "protein_names_refseq": "T-cell chemotactic factor; alveolar macrophage chemotactic factor I; beta endothelial cell-derived neutrophil activating peptide; beta-thromboglobulin-like protein; chemokine (C-X-C motif) ligand 8; emoctakin; granulocyte chemotactic protein 1; interleukin 8; interleukin-8 isoform 1 precursor; lung giant cell carcinoma-derived chemotactic protein; lymphocyte derived neutrophil activating peptide; monocyte-derived neutrophil chemotactic factor; monocyte-derived neutrophil-activating peptide; neutrophil-activating peptide 1; small inducible cytokine subfamily B, member 8; tumor necrosis factor-induced gene 1", "tax_id": 9606, "disease": "autoimmune uveitis (Disease Ontology:DOID:0040088); chikungunya (Disease Ontology:DOID:0050012); extrapulmonary tuberculosis (Disease Ontology:DOID:0050598); COVID-19 (Disease Ontology:DOID:0080600); urinary tract infection (Disease Ontology:DOID:0080784); acute asthma (Disease Ontology:DOID:0080810); vitamin D-dependent rickets (Disease Ontology:DOID:0080883); trypanosomiasis (Disease Ontology:DOID:10113); leprosy (Disease Ontology:DOID:1024); common cold (Disease Ontology:DOID:10459); brucellosis (Disease Ontology:DOID:11077); trachoma (Disease Ontology:DOID:11265); adult respiratory distress syndrome (Disease Ontology:DOID:11394); primary biliary cholangitis (Disease Ontology:DOID:12236); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); eumycotic mycetoma (Disease Ontology:DOID:13078); biliary atresia (Disease Ontology:DOID:13608); cystic fibrosis (Disease Ontology:DOID:1485); intrahepatic cholestasis (Disease Ontology:DOID:1852); hepatitis C (Disease Ontology:DOID:1883); vulvovaginal candidiasis (Disease Ontology:DOID:2272); multiple sclerosis (Disease Ontology:DOID:2377); Mycobacterium avium complex disease (Disease Ontology:DOID:2755); endometriosis (Disease Ontology:DOID:289); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); pulmonary fibrosis (Disease Ontology:DOID:3770); tuberculosis (Disease Ontology:DOID:399); gastritis (Disease Ontology:DOID:4029); bacterial gastritis (Disease Ontology:DOID:4033); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); stomach carcinoma (Disease Ontology:DOID:5517); acute pyelonephritis (Disease Ontology:DOID:559); viral encephalitis (Disease Ontology:DOID:646); hepatocellular carcinoma (Disease Ontology:DOID:684); visceral leishmaniasis (Disease Ontology:DOID:9146)", "pathway": " (hsa:3576); (R-HSA-2559582); (R-HSA-375276); (R-HSA-380108); (R-HSA-380994); (R-HSA-418594); (R-HSA-6783783); (R-HSA-6785807)", "pathway_count": 8, "publication_count": 384, "publication_id_list": "10023775;10079109;10092818;10100623;10219247;10229797;10368283;10369418;10381885;10415057;10421367;10421368;10432220;10433356;10438732;10461880;10498338;10499587;10510379;10548110;10586089;10604470;10640743;10706668;10707023;10725696;10725697;10781587;10854085;10867011;10899166;10958673;11007482;11023497;11058569;11060282;11084045;11104795;11114305;11120780;11237011;11278437;11278729;11322507;11340163;11356008;11385580;11404481;11457843;11463377;11562423;11683476;11773063;11960372;11971003;11978786;12120503;12149255;12223527;12242343;12427552;12540846;12554737;12554859;12600988;12626585;12719537;1280419;12832402;12832467;12884299;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;1460289;14634100;14679213;14711052;14712222;14742429;15067078;15116091;15139756;15183770;15261459;15385533;15539556;15584925;1567413;15774718;15805299;15869882;15919823;15947423;15950906;15951850;16007214;16048438;16107333;16107692;16205632;16236134;1639201;16397018;16451196;16510571;16534867;16540365;1655761;16606674;16626623;16634148;16687408;16912112;16923326;16931790;16982608;16989641;1710450;1710578;1719979;1722333;17427945;1744577;17458857;1755384;17572495;18127230;18243101;18267069;18285520;18353781;1840701;18411265;18434541;18447642;1847994;18555777;18555778;18577758;18644974;18692776;18710930;18840095;1891716;19124156;19185846;19397496;1940369;1940799;19608678;19805069;1988949;20002784;20022965;2005614;2007144;20145033;20351173;20361218;20452968;20493732;2078213;20829347;21102457;21109482;21252155;2145175;21673904;21689689;21730069;2182630;2183031;2184886;21937440;21979375;21994466;2200751;22046235;2212672;2217207;22178396;22205702;22383755;22634325;22693070;22802018;22819556;22851691;22978410;23086340;23124025;23172665;23269699;23446738;23455323;23555662;23690594;23846687;23967200;2405250;24097101;2423119;24501198;24706756;24743777;24906252;25234944;2523801;2534964;2648135;2649896;2655583;2659722;2663993;2664463;2681204;2748346;27496565;2834384;28791816;28836077;29242379;29413899;2953813;29557506;2970963;30304975;3098319;31235521;3202875;32511562;32576222;3260265;3279957;32938616;32983136;3322281;33349241;3366244;33968037;3480540;35051231;3525564;3856870;39000323;39199417;39244903;39382416;39405497;6274691;6281660;6373251;6589611;7057924;7510216;7512027;7512451;7516408;7524088;7529288;7543512;7590751;7592910;7592911;7593617;7594602;7602097;7622448;7624359;7636208;7642634;7679328;7684412;7687627;7795521;7796300;7797512;7851893;7875320;7898939;7902377;7905839;7907877;7937899;8015379;8035319;8048929;8062389;8063757;8063797;8085155;8102388;8120391;8163946;8185599;8186324;8201839;8234276;8248172;8294032;8301137;8344717;8373420;8381365;8383238;8383682;8384717;8395824;8406495;8413215;8413306;8440682;8463333;8503909;8537680;8602263;8615752;8617720;8621622;8631339;8639485;8662698;8662928;8663118;8666380;8668165;8688489;8702752;8734788;873923;8742066;8797861;8816495;8823230;8849694;8871669;8884985;8897595;8910398;8921438;8939459;8946277;9013879;9013939;9024663;9164944;9166430;9169459;9171878;9207005;9276730;9312047;9354687;9390561;9449724;9463416;9521323;9530155;9550426;9593744;9607765;9618518;9623510;9624135;9651359;9685625;9722565;9723655;9736340;9792798;9794440;9822675;9832121;9836587;9851594;9874564;9918218", "class_list": "", "function": "Chemotactic factor that mediates inflammatory response by attracting neutrophils, basophils, and T-cells to clear pathogens and protect the host from infection. Also plays an important role in neutrophil activation. Released in response to an inflammatory stimulus, exerts its effect by binding to the G-protein-coupled receptors CXCR1 and CXCR2, primarily found in neutrophils, monocytes and endothelial cells. G-protein heterotrimer (alpha, beta, gamma subunits) constitutively binds to CXCR1/CXCR2 receptor and activation by IL8 leads to beta and gamma subunits release from Galpha (GNAI2 in neutrophils) and activation of several downstream signaling pathways including PI3K and MAPK pathways., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Comparative Bindings of Glycosaminoglycans with CXCL8 Monomer and Dimer: Insights from Conformational Dynamics and Kinetics of Hydrogen Bonds., [RefSeq, PubMed]; Diagnostic utility of sortilin & other biomarkers in the diagnosis of carotid & coronary atherosclerosis in individuals with arterial hypertension., [RefSeq, PubMed]; Extracellular Vesicles Induce Nuclear Factor-kappaB Activation and Interleukin-8 Synthesis through miRNA-191-5p Contributing to Inflammatory Processes: Potential Implications in the Pathogenesis of Chronic Obstructive Pulmonary Disease. Publication Status: Online-Only, [RefSeq, PubMed]; IL-8 Induces Neutrophil Extracellular Trap Formation in Severe Thermal Injury. Publication Status: Online-Only, [RefSeq, PubMed]; IL-8 promotes lens capsular residual cells migration by down-regulates expression of E-cadherin and ZO-1 via the CXCR1/2-NF-kappaB-RhoA signal pathway., [RefSeq, PubMed]; The protein encoded by this gene is a member of the CXC chemokine family and is a major mediator of the inflammatory response. The encoded protein is commonly referred to as interleukin-8 (IL-8). IL-8 is secreted by mononuclear macrophages, neutrophils, eosinophils, T lymphocytes, epithelial cells, and fibroblasts. It functions as a chemotactic factor by guiding the neutrophils to the site of infection. Bacterial and viral products rapidly induce IL-8 expression. IL-8 also participates with other cytokines in the proinflammatory signaling cascade and plays a role in systemic inflammatory response syndrome (SIRS). This gene is believed to play a role in the pathogenesis of the lower respiratory tract infection bronchiolitis, a common respiratory tract disease caused by the respiratory syncytial virus (RSV). The overproduction of this proinflammatory protein is thought to cause the lung inflammation associated with csytic fibrosis. This proinflammatory protein is also suspected of playing a role in coronary artery disease and endothelial dysfunction. This protein is also secreted by tumor cells and promotes tumor migration, invasion, angiogenesis and metastasis. This chemokine is also a potent angiogenic factor. The binding of IL-8 to one of its receptors (IL-8RB/CXCR2) increases the permeability of blood vessels and increasing levels of IL-8 are positively correlated with increased severity of multiple disease outcomes (eg, sepsis). This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, May 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic; monitoring; diagnostic", "glycan_count": 0, "disease_count": 39, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4L8;Q6FGF6;Q6LAE6;Q96RG6;Q9C077;Q9UCE1;Q9UCR8;Q9UCR9;Q9UCS0", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0005153 interleukin-8 receptor binding;GO:0008009 chemokine activity;GO:0045236 CXCR chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane", "go_biological_process": "GO:2000535 regulation of entry of bacterium into host cell;GO:0045091 regulation of single stranded viral RNA replication via double stranded DNA intermediate;GO:0001525 angiogenesis;GO:0006935 chemotaxis;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 38.5, "record_id": "P10145-1", "record_type": "protein", "filter_code": "1101000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14529-1", "uniprot_id": [ { "id": "CUX2_HUMAN", "url": "https://www.uniprot.org/uniprot/O14529", "type": "external" } ], "mass": 161677.0, "length": 1486, "protein_name": "Homeobox protein cut-like 2", "gene_name": "CUX2", "organism": "Human", "refseq_name": "homeobox protein cut-like 2 isoform 1", "refseq_ac": [ { "id": "NP_056082", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056082", "type": "external" } ], "gene_names_uniprotkb": "CUX2; CUTL2; KIAA0293", "gene_names_refseq": "CDP2; CUTL2; CUX2; DEE67; EIEE67", "protein_names_uniprotkb": "Homeobox protein cut-like 2; Homeobox protein cux-2", "protein_names_refseq": "homeobox protein cut-like 2 isoform 1; homeobox protein cut-like 2; homeobox protein cux-2", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 67 (Disease Ontology:DOID:0112203); cancer (Disease Ontology:DOID:162); hematologic cancer (Disease Ontology:DOID:2531)", "pathway": " (hsa:23316)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;18669648;20068231;23481700;26154972;26992070;28832583;29557506;29630738;29795476;30720667;30779550;32357974;32938616;33093602;33141586;34561969;35051231;35881915;36215666;9179496", "class_list": "", "function": "CUX2, BRAP and ALDH2 are associated with metabolic traits in people with excessive alcohol consumption. Publication Status: Online-Only, [RefSeq, PubMed]; CUX2/KDM5B/SOX17 Axis Affects the Occurrence and Development of Breast Cancer. Erratum:[Endocrinology. 2022 Nov 14;164(1):bqac199. doi: 10.1210/endocr/bqac199. PMID: 36527259], [RefSeq, PubMed]; De novo variant c.1768G>A; p.(Glu590Lys) in CUX2 was identifies in a patient with intellectual disability, seizures, and autism spectrum disorder., [RefSeq, PubMed]; This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4. [provided by RefSeq, Jan 2013]., [RefSeq]; This is the first study to explore and validate the relationships between seven SNPs in the FAM65B, AGBL4, and CUX2 genes and ATDH in a Chinese population. On the basis of this case-control study, SNP rs10946737 in FAM65B may be associated with susceptibility to ATDH in Chinese Han anti-TB treatment patients., [RefSeq, PubMed]; Transcription factor involved in the control of neuronal proliferation and differentiation in the brain. Regulates dendrite development and branching, dendritic spine formation, and synaptogenesis in cortical layers II-III. Binds to DNA in a sequence-specific manner., [UniProtKB, UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A7E2Y4", "ec_number_list": [], "go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0070062 extracellular exosome;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0050890 cognition", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "O14529-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5W5-1", "uniprot_id": [ { "id": "WIF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5W5", "type": "external" } ], "mass": 41528.0, "length": 379, "protein_name": "Wnt inhibitory factor 1", "gene_name": "WIF1", "organism": "Human", "refseq_name": "wnt inhibitory factor 1 precursor", "refseq_ac": [ { "id": "NP_009122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009122", "type": "external" } ], "gene_names_uniprotkb": "WIF1; PRO217", "gene_names_refseq": "WIF-1; WIF1", "protein_names_uniprotkb": "Wnt inhibitory factor 1; WIF-1", "protein_names_refseq": "wnt inhibitory factor 1 precursor", "tax_id": 9606, "disease": "small cell carcinoma (Disease Ontology:DOID:0050685); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); nephroblastoma (Disease Ontology:DOID:2154); invasive ductal carcinoma (Disease Ontology:DOID:3008); renal cell carcinoma (Disease Ontology:DOID:4450)", "pathway": " (hsa:11197); (R-HSA-201681); (R-HSA-3772470)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10198061;10201374;10347172;11029007;11137016;11237011;11357136;11433302;11448771;11493532;11742004;12050670;12167704;12205098;12223464;12527209;12775774;12897152;12975309;14636582;14981260;15084453;15208637;15256437;15351726;15377999;15454084;15459103;15778503;15908424;16007117;16116452;16172602;16280981;16427602;16476441;16554443;16723543;16971168;17143291;17234765;17462603;18077588;18322270;18423204;18502762;18606139;19000841;19174556;19188438;19208630;19307728;19619488;19755491;20004982;20053636;20093360;21383061;21743455;21875946;21944579;21984209;22000855;22000856;22014570;22411803;22653731;22773843;22951645;22986341;23256519;23791946;29557506;32157095;34627187;34944004;37306343;37849332;38604345;9135132;9391096;9501980", "class_list": "", "function": "Aberrant Wnt signaling is a common event in NPC carcinogenesis linked with WIF-1 silencing, [RefSeq, PubMed]; Binds to WNT proteins and inhibits their activities. May be involved in mesoderm segmentation., [UniProtKB, UniProtKB, UniProtKB]; Expanding the histological spectrum of salivary gland neoplasms with HMGA2::WIF1 fusion emphasising their malignant potential: a report of eight cases., [RefSeq, PubMed]; Novel mechanism of Wnt pathway regulation whereby activation of Rac1 amplifies signaling activity of stabilized/mutated beta-catenin by promoting accumulation in nucleus, and synergizing with beta-catenin to augment TCF/LEF-dependent gene transcription, [RefSeq, PubMed]; The detection of specific hypermethylated WIF1 and NPY genes in circulating DNA by crystal digital PCR is a powerful new tool for colorectal cancer diagnosis and screening. Publication Status: Online-Only, [RefSeq, PubMed]; The methylation-status of the CpG island within the functional WIF-1 promoter region is an important key in Wnt activation in human cancer, [RefSeq, PubMed]; The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010]., [RefSeq]; Upregulated miR-374a-5p drives psoriasis pathogenesis through WIF1 downregulation and Wnt5a/NF-kappaB activation., [RefSeq, PubMed]; WIF-1 silencing due to promoter hypermethylation is an important mechanism underlying aberrant activation of the Wnt signaling pathway in carcinogenesis of the digestive organs, [RefSeq, PubMed]; WIF1 was downregulated in cervical cancer due to promoter methylation., [RefSeq, PubMed]; Wnt Inhibitory Factor 1 Binds to and Inhibits the Activity of Sonic Hedgehog. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXI1;Q8WVG4", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0009986 cell surface", "go_biological_process": "GO:0007165 signal transduction;GO:0016055 Wnt signaling pathway;GO:0030178 negative regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9Y5W5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYD5-1", "uniprot_id": [ { "id": "CNFN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYD5", "type": "external" } ], "mass": 12376.0, "length": 112, "protein_name": "Cornifelin", "gene_name": "CNFN", "organism": "Human", "refseq_name": "cornifelin", "refseq_ac": [ { "id": "NP_115877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115877", "type": "external" } ], "gene_names_uniprotkb": "CNFN", "gene_names_refseq": "CNFN; PLAC8L2", "protein_names_uniprotkb": "Cornifelin", "protein_names_refseq": "cornefied envelope protein cornefilin; cornifelin", "tax_id": 9606, "disease": "", "pathway": " (hsa:84518)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "15147942;26992070;28834231;37149695;9115270", "class_list": "", "function": "Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R569", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9BYD5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZP3-1", "uniprot_id": [ { "id": "CR002_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZP3", "type": "external" } ], "mass": 9646.0, "length": 86, "protein_name": "Putative uncharacterized protein encoded by LINC00470", "gene_name": "LINC00470", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00470; C18orf2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00470", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11173868", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BZP2;Q9BZP4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9BZP3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95715-1", "uniprot_id": [ { "id": "CXL14_HUMAN", "url": "https://www.uniprot.org/uniprot/O95715", "type": "external" } ], "mass": 13078.0, "length": 111, "protein_name": "C-X-C motif chemokine 14", "gene_name": "CXCL14", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CXCL14; MIP2G; NJAC; PRO273; PSEC0212; SCYB14", "gene_names_refseq": "", "protein_names_uniprotkb": "C-X-C motif chemokine 14; Chemokine BRAK; MIP-2G; Small-inducible cytokine B14", "protein_names_refseq": "", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:9547)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10049774;10854217;10946286;11237011;12975309;16303743;16987528;17074750;29557506;29786170;29789417;31844290;32387766;32488085;35051231;35251023;36284347", "class_list": "", "function": "Potent chemoattractant for neutrophils, and weaker for dendritic cells. Not chemotactic for T-cells, B-cells, monocytes, natural killer cells or granulocytes. Does not inhibit proliferation of myeloid progenitors in colony formation assays., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQU8;Q6UW97;Q86U69;Q9BTR1;Q9NS21", "ec_number_list": [], "go_molecular_function": "GO:0008009 chemokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006935 chemotaxis;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O95715-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NM66-1", "uniprot_id": [ { "id": "CU054_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NM66", "type": "external" } ], "mass": 11668.0, "length": 108, "protein_name": "Uncharacterized protein encoded by LINC01548", "gene_name": "LINC01548", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01548; C21orf54", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein encoded by LINC01548", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NM66-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15255-1", "uniprot_id": [ { "id": "CXX1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15255", "type": "external" } ], "mass": 22278.0, "length": 209, "protein_name": "CAAX box protein 1", "gene_name": "RTL8C", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RTL8C; CXX1; FAM127A; MAR8C; MAR8; MART8; hucep-5", "gene_names_refseq": "", "protein_names_uniprotkb": "CAAX box protein 1; Cerebral protein 5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:8933)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "15716091;16093683;9403077", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IBF1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "O15255-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24387-1", "uniprot_id": [ { "id": "CRHBP_HUMAN", "url": "https://www.uniprot.org/uniprot/P24387", "type": "external" } ], "mass": 36144.0, "length": 322, "protein_name": "Corticotropin-releasing hormone-binding protein", "gene_name": "CRHBP", "organism": "Human", "refseq_name": "corticotropin-releasing factor-binding protein", "refseq_ac": [ { "id": "NP_001873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001873", "type": "external" } ], "gene_names_uniprotkb": "CRHBP; CRFBP", "gene_names_refseq": "CRF-BP; CRFBP; CRHBP", "protein_names_uniprotkb": "Corticotropin-releasing hormone-binding protein; CRF-BP; CRF-binding protein; CRH-BP; Corticotropin-releasing factor-binding protein", "protein_names_refseq": "CRF-binding protein; CRH-BP; corticotropin-releasing factor-binding protein", "tax_id": 9606, "disease": "opioid abuse (Disease Ontology:DOID:11206); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); anxiety disorder (Disease Ontology:DOID:2030); temporal lobe epilepsy (Disease Ontology:DOID:3328); cocaine abuse (Disease Ontology:DOID:809); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1393); (R-HSA-373080)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10097073;11237011;11297558;12098667;12559132;15498814;16602827;18234674;1846945;18559919;18801728;20966082;25505266;27862975;29391424;29557506;31154438;31570754;32551975;33295169;3494446;35580925;36114994;3616618;36280595;37074911;6950381;7477348;7585095;7797535;8082781;8198617;8307998;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337", "class_list": "", "function": "Binds CRF and inactivates it. May prevent inappropriate pituitary-adrenal stimulation in pregnancy., [UniProtKB, UniProtKB]; Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008]., [RefSeq]; Genetic Variation, Stress, and Physiological Stress Response in Adults With Food Allergy or Celiac Disease., [RefSeq, PubMed]; Integrative analysis reveals CRHBP inhibits renal cell carcinoma progression by regulating inflammation and apoptosis., [RefSeq, PubMed]; Specifically binds and inactivates the corticotropin-releasing hormone (CRH) and urocortin-1 (UCN) hormones, thereby inhibiting the hypothalamus-pituitary-adrenal axis and preventing corticotropin hormone (ACTH) production (PubMed:18234674, PubMed:1846945, PubMed:3494446, PubMed:7477348, PubMed:7585095). May be required to prevent inappropriate pituitary-adrenal stimulation in pregnancy (PubMed:7585095)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The Effect of CRHBP rs10062367 Polymorphism and Parenting Styles on Internalizing Problems in Preschoolers: The Moderating Effect of Sensory Processing Sensitivity., [RefSeq, PubMed]; The GCAG Haplotype of the CRHBP Gene May Decrease the Risk for Robbery Behavior Among the Han Chinese., [RefSeq, PubMed]; [Analysis of Correlation between Gene Polymorphisms of CRHBP in Yunnan Han Population and Schizophrenia and Aggressive Behavior]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 9, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53F32;Q6FHT5", "ec_number_list": [], "go_molecular_function": "GO:0042277 peptide binding;GO:0051424 corticotropin-releasing hormone binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005874 microtubule;GO:0030141 secretory granule", "go_biological_process": "GO:0002125 maternal aggressive behavior;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007611 learning or memory;GO:0045055 regulated exocytosis", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P24387-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVV8-1", "uniprot_id": [ { "id": "F174C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVV8", "type": "external" } ], "mass": 14249.0, "length": 132, "protein_name": "Protein FAM174C", "gene_name": "FAM174C", "organism": "Human", "refseq_name": "protein FAM174C precursor", "refseq_ac": [ { "id": "NP_060384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060384", "type": "external" } ], "gene_names_uniprotkb": "FAM174C; C19orf24", "gene_names_refseq": "C19orf24; FAM174C", "protein_names_uniprotkb": "Protein FAM174C", "protein_names_refseq": "protein FAM174C precursor; protein FAM174C", "tax_id": 9606, "disease": "", "pathway": " (hsa:55009)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16847563;17081983;18669648;19651622;20068231;23481700;26154972;27600516;28832583;29242379;29493099;29557506;30429286;31154438;31844290;31848261;32157095;32350084;32488085;32938616;32983136;33592498;34561969;35251023;35580925;36215666", "class_list": "", "function": "The isolation and characterization of a novel human non-classical secreted protein which is encoded by the hypothetical gene C19orf24 (chromosome 19 open reading frame 24), is reported., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9NWS2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9BVV8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14936-1", "uniprot_id": [ { "id": "CSKP_HUMAN", "url": "https://www.uniprot.org/uniprot/O14936", "type": "external" } ], "mass": 105123.0, "length": 926, "protein_name": "Peripheral plasma membrane protein CASK", "gene_name": "CASK", "organism": "Human", "refseq_name": "peripheral plasma membrane protein CASK isoform 2", "refseq_ac": [ { "id": "NP_001119526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119526", "type": "external" } ], "gene_names_uniprotkb": "CASK; LIN2", "gene_names_refseq": "CAGH39; CAMGUK; CASK; CMG; FGS4; LIN2; MICPCH; MRXSNA; TNRC8; hCASK", "protein_names_uniprotkb": "Peripheral plasma membrane protein CASK; 2.7.11.1; Calcium/calmodulin-dependent serine protein kinase; Protein lin-2 homolog; hCASK", "protein_names_refseq": "calcium/calmodulin-dependent serin protein kinase; calcium/calmodulin-dependent serine protein kinase (MAGUK family); calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase; peripheral plasma membrane protein CASK isoform 2; peripheral plasma membrane protein CASK; protein lin-2 homolog; trinucleotide repeat containing 8", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); syndromic X-linked intellectual disability (Disease Ontology:DOID:0060309); syndromic X-linked intellectual disability Najm type (Disease Ontology:DOID:0060807); FG syndrome (Disease Ontology:DOID:14711)", "pathway": " (hsa:8573); (R-HSA-212676); (R-HSA-3000170); (R-HSA-373753); (R-HSA-6794361); (R-HSA-9609736); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 8, "publication_count": 133, "publication_id_list": "10.1101/2023.09.13.557529;10025409;10393930;10541305;10611248;10821263;11003712;11163272;11237011;11340081;11562357;11604393;11733557;12519779;12660326;12668668;12846735;12865409;12975610;14570703;14633607;14681059;14976204;15331416;15479743;15540461;15545998;15579503;15634346;15843475;15935055;15994232;16242404;16525419;16543952;16624946;16630808;16846852;16945929;17314405;17344846;17478680;17855605;17891149;17893108;17897391;17923684;17989281;17997397;18033240;18054859;18423203;18617632;18812509;18829961;19012874;19165920;19200522;19377476;19443634;20064387;20064388;20067577;20233749;20519524;21282647;23186163;23662938;24275569;25378172;25880248;25892735;26154972;26992070;27846572;27862975;28218747;28228285;28514659;28832583;28834231;28904123;29237092;29242379;29331515;29393594;29437277;29493099;29508533;29557506;2963012;29632046;29769354;29786170;29789417;30315122;30429286;30590034;31844290;32157095;32357974;32488085;32502341;32938616;33141586;33592498;33717175;33912179;33968037;34087483;34171305;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36581221;38670634;7695896;7736595;8576240;8609172;9069287;9115237;9546224;9660868;9701566;9753324;9808458;9927700", "class_list": "", "function": "Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein. Publication Status: Online-Only, [RefSeq, PubMed]; Multidomain scaffolding Mg(2+)-independent protein kinase that catalyzes the phosphotransfer from ATP to proteins such as NRXN1, and plays a role in synaptic transmembrane protein anchoring and ion channel trafficking (PubMed:18423203). Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. Component of the LIN-10-LIN-2-LIN-7 complex, which associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NES1;B7ZKY0;O43215;Q17RI4;Q59HA0;Q5VT16;Q5VT17;Q5VT18;Q5VT19;Q66T42;Q9BYH6;Q9NYB2;Q9NYB3", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004385 GMP kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005102 signaling receptor binding;GO:0005516 calmodulin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0015031 protein transport;GO:0001953 negative regulation of cell-matrix adhesion;GO:0046928 regulation of neurotransmitter secretion;GO:0061045 negative regulation of wound healing", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "O14936-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43927-1", "uniprot_id": [ { "id": "CXL13_HUMAN", "url": "https://www.uniprot.org/uniprot/O43927", "type": "external" } ], "mass": 12664.0, "length": 109, "protein_name": "C-X-C motif chemokine 13", "gene_name": "CXCL13", "organism": "Human", "refseq_name": "C-X-C motif chemokine 13 precursor", "refseq_ac": [ { "id": "NP_006410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006410", "type": "external" } ], "gene_names_uniprotkb": "CXCL13; BCA1; BLC; SCYB13", "gene_names_refseq": "ANGIE2; ANGIE; BCA-1; BCA1; BLC; BLR1L; CXCL13; SCYB13", "protein_names_uniprotkb": "C-X-C motif chemokine 13; Angie; B cell-attracting chemokine 1; B lymphocyte chemoattractant; BCA-1; CXC chemokine BLC; Small-inducible cytokine B13", "protein_names_refseq": "B-cell chemoattractant; B-cell-attracting chemokine 1; B-cell-homing chemokine (ligand for Burkitt's lymphoma receptor-1); B-lymphocyte chemoattractant; C-X-C motif chemokine 13 precursor; C-X-C motif chemokine 13; CXC chemokine BLC; b cell-attracting chemokine 1; b lymphocyte chemoattractant; chemokine (C-X-C motif) ligand 13 (B-cell chemoattractant); small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant); small-inducible cytokine B13", "tax_id": 9606, "disease": "", "pathway": " (hsa:10563); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;12120503;12149255;12554737;12884299;12949249;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;2423119;2534964;2748346;2834384;29093164;29242379;29557506;2970963;29786170;3098319;31154438;32157095;3260265;34185709;34357683;35580925;36010968;38203597;38301965;38429811;38459390;38987586;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9486651;9618518", "class_list": "", "function": "B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Oct 2014]., [RefSeq]; CXCL13 displays antimicrobial activity against E. coli and S. aureus., [RefSeq, PubMed]; CXCL13 in Cerebrospinal Fluid: Clinical Value in a Large Cross-Sectional Study. Publication Status: Online-Only, [RefSeq, PubMed]; CXCL13 promotes TNF-alpha synthesis in rheumatoid arthritis through activating ERK/p38 pathway and inhibiting miR-330-3p generation., [RefSeq, PubMed]; Chemotactic for B-lymphocytes but not for T-lymphocytes, monocytes and neutrophils. Does not induce calcium release in B-lymphocytes. Binds to BLR1/CXCR5., [UniProtKB]; Correlation of serum and local CXCL13 levels with disease severity in patients with non-traumatic osteonecrosis of femoral head. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon subverts an AHR-JUN axis to promote CXCL13[+] T cells in lupus. Erratum:[Nature. 2024 Aug;632(8025):E6. doi: 10.1038/s41586-024-07845-8. PMID: 39060417], [RefSeq, PubMed]; Transcriptome analysis reveals the clinical significance of CXCL13 in Pan-Gyn tumors. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0048018 receptor ligand activity;GO:0017134 fibroblast growth factor binding;GO:0031724 CXCR5 chemokine receptor binding;GO:0008009 chemokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0032487 regulation of Rap protein signal transduction;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O43927-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75638-1", "uniprot_id": [ { "id": "CTAG2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75638", "type": "external" } ], "mass": 21090.0, "length": 210, "protein_name": "Cancer/testis antigen 2", "gene_name": "CTAG2", "organism": "Human", "refseq_name": "cancer/testis antigen 2 isoform LAGE-1b", "refseq_ac": [ { "id": "NP_066274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066274", "type": "external" } ], "gene_names_uniprotkb": "CTAG2; ESO2; LAGE1", "gene_names_refseq": "CAMEL; CT2; CT6.2a; CT6.2b; CT6.2; CTAG2; ESO2; LAGE-1; LAGE2B", "protein_names_uniprotkb": "Cancer/testis antigen 2; Autoimmunogenic cancer/testis antigen NY-ESO-2; CT2; CT6.2; Cancer/testis antigen 6.2; L antigen family member 1; LAGE-1", "protein_names_refseq": "CTL-recognized antigen on melanoma; LAGE-1a protein; autoimmunogenic cancer/testis antigen NY-ESO-2; cancer/testis antigen 2 isoform LAGE-1b; cancer/testis antigen 6.2; cancer/testis antigen family 6, member 2a; cancer/testis antigen family 6, member 2b; l antigen family member 1", "tax_id": 9606, "disease": "mirror movements 1 (Disease Ontology:DOID:0070636); depressive disorder (Disease Ontology:DOID:1596); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:30848)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10399963;11709543;17899192;24885297;25645385;31937595;32913031;33141586;38956325;9626360", "class_list": "", "function": "The tumor suppressor function of LSAMP is most likely exerted by reducing the proliferation rate of the tumor cells, possibly by indirectly upregulating one or more of the genes HES1, CTAG2 or KLF10. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an autoimmunogenic tumor antigen that belongs to the ESO/LAGE family of cancer-testis antigens. This protein is expressed in a wide array of cancers including melanoma, breast cancer, bladder cancer and prostate cancer. This protein is also expressed in normal testis tissue. An alternative open reading frame product of this gene has been described in PMID:10399963. This alternate protein, termed CAMEL, is a tumor antigen that is recognized by melanoma-specific cytotoxic T-lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75637;Q0VIL6;Q14CD6;Q2Z1N4;Q9BU80;Q9UJ89;Q9Y479", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome", "go_biological_process": "GO:0070525 tRNA threonylcarbamoyladenosine metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "O75638-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75712-1", "uniprot_id": [ { "id": "CXB3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75712", "type": "external" } ], "mass": 30818.0, "length": 270, "protein_name": "Gap junction beta-3 protein", "gene_name": "GJB3", "organism": "Human", "refseq_name": "gap junction beta-3 protein", "refseq_ac": [ { "id": "NP_001005752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005752", "type": "external" } ], "gene_names_uniprotkb": "GJB3; CX31", "gene_names_refseq": "CX31; DFNA2B; DFNA2; EKVP1; EKV; GJB3", "protein_names_uniprotkb": "Gap junction beta-3 protein; Connexin-31; Cx31", "protein_names_refseq": "connexin 31; gap junction beta-3 protein; gap junction protein, beta 3, 31kDa", "tax_id": 9606, "disease": "erythrokeratodermia variabilis (Disease Ontology:DOID:0050467); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); autosomal recessive nonsyndromic deafness 1A (Disease Ontology:DOID:0110475); autosomal dominant nonsyndromic deafness 2B (Disease Ontology:DOID:0110559); erythrokeratodermia variabilis et progressiva 1 (Disease Ontology:DOID:0111195)", "pathway": " (hsa:2707); (R-HSA-190861); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 37, "publication_id_list": "10191254;10587579;10594760;10757647;10790215;10798362;12067728;12624109;15140226;15234001;15536180;15556625;15675955;15780751;16297201;17200141;17330888;1850831;18767875;19283857;19924134;22735594;23283814;23629652;24794495;26340985;29557506;30905808;31399284;32645618;35580925;38029595;38956497;7929580;9704026;9843209;9843210", "class_list": "", "function": "Impairment of alpha-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China., [RefSeq, PubMed]; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell., [UniProtKB]; The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China., [RefSeq, PubMed]; This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R790;Q2TAZ8", "ec_number_list": [], "go_molecular_function": "GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0030054 cell junction;GO:0005921 gap junction;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "O75712-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95727-1", "uniprot_id": [ { "id": "CRTAM_HUMAN", "url": "https://www.uniprot.org/uniprot/O95727", "type": "external" } ], "mass": 44641.0, "length": 393, "protein_name": "Cytotoxic and regulatory T-cell molecule", "gene_name": "CRTAM", "organism": "Human", "refseq_name": "cytotoxic and regulatory T-cell molecule isoform 2", "refseq_ac": [ { "id": "NP_001291711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291711", "type": "external" } ], "gene_names_uniprotkb": "CRTAM", "gene_names_refseq": "CD355; CRTAM", "protein_names_uniprotkb": "Cytotoxic and regulatory T-cell molecule; Class-I MHC-restricted T-cell-associated molecule", "protein_names_refseq": "class-I MHC-restricted T-cell-associated molecule; cytotoxic and regulatory T-cell molecule isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56253); (R-HSA-198933)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10499918;10746781;10811014;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15811952;15851719;15864273;16014749;16091383;16129954;16300832;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23583034;23695528;23871486;23929856;24305946;25703557;25716998;26284469;26300885;30429286;30459171;30791148;31844290;32157095;32300914;32983136;34932366;35051231;35580925;38354509;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "CRTAM promotes antitumor immune response in triple negative breast cancer by enhancing CD8+ T cell infiltration., [RefSeq, PubMed]; Mediates heterophilic cell-cell adhesion which regulates the activation, differentiation and tissue retention of various T-cell subsets (By similarity). Interaction with CADM1 promotes natural killer (NK) cell cytotoxicity and IFNG/interferon-gamma secretion by CD8+ T-cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM1 in vivo (PubMed:15811952). Regulates CD8+ T-cell proliferation in response to T-cell receptor (TCR) activation (By similarity). Appears to be dispensable for CD8+ T-cell-mediated cytotoxicity (By similarity). Interaction with SCRIB promotes the late phase of cellular polarization of a subset of CD4+ T-cells, which in turn regulates TCR-mediated proliferation and IFNG, IL17 and IL22 production (By similarity). By interacting with CADM1 on CD8+ dendritic cells, regulates the retention of activated CD8+ T-cells within the draining lymph node (By similarity). Required for the intestinal retention of intraepithelial CD4+ CD8+ T-cells and, to a lesser extent, intraepithelial and lamina propria CD8+ T-cells and CD4+ T-cells (By similarity). Interaction with CADM1 promotes the adhesion to gut-associated CD103+ dendritic cells, which may facilitate the expression of gut-homing and adhesion molecules on T-cells and the conversion of CD4+ T-cells into CD4+ CD8+ T-cells (By similarity)., [UniProtKB, UniProtKB, PubMed]; NK cells and T8 cells recognize Necl-2 through CRTAM, expressed only on activated cells. CRTAM-Necl-2 interactions promote cytotoxicity of NK cells and IFN-gamma secretion of T8 cells as well as NK cell-mediated rejection of tumors expressing Necl-2, [RefSeq, PubMed]; Necl2/CRTAM molecular pair could regulate a large panel of cell/cell interactions both within and outside of the immune system, [RefSeq, PubMed]; Prokaryotic Expression of the Immunoglobulin's Domains of CRTAM to Characterize a Monoclonal Antibody., [RefSeq, PubMed]; The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]., [RefSeq]; The findings suggest, for the first time, that the tumor microenvironment in acute lymphoblastic leukemia directly contribute to exhaustion of NK cell functions by the CRTAM/Necl-2 interaction, and that the potential regulatory role of exhausted-like NK cells may favor malignant progression at the expense of anti-tumor responses., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q59EI1;Q6IRX2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0001772 immunological synapse", "go_biological_process": "GO:0001819 positive regulation of cytokine production;GO:0002250 adaptive immune response;GO:0045580 regulation of T cell differentiation;GO:0032729 positive regulation of type II interferon production;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O95727-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02775-1", "uniprot_id": [ { "id": "CXCL7_HUMAN", "url": "https://www.uniprot.org/uniprot/P02775", "type": "external" } ], "mass": 13894.0, "length": 128, "protein_name": "Platelet basic protein", "gene_name": "PPBP", "organism": "Human", "refseq_name": "platelet basic protein preproprotein", "refseq_ac": [ { "id": "NP_002695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002695", "type": "external" } ], "gene_names_uniprotkb": "PPBP; CTAP3; CXCL7; SCYB7; TGB1; THBGB1", "gene_names_refseq": "B-TG1; Beta-TG; CTAP-III; CTAP3; CTAPIII; CXCL7; LA-PF4; LDGF; MDGF; NAP-2; PBP; PPBP; SCYB7; TC1; TC2; TGB1; TGB; THBGB1; THBGB", "protein_names_uniprotkb": "Platelet basic protein; C-X-C motif chemokine 7; LA-PF4; LDGF; Leukocyte-derived growth factor; Low-affinity platelet factor IV; MDGF; Macrophage-derived growth factor; PBP; Small-inducible cytokine B7", "protein_names_refseq": "C-X-C motif chemokine 7; CXC chemokine ligand 7; beta-thromboglobulin; chemokine (C-X-C motif) ligand 7; connective tissue-activating peptide III; leukocyte-derived growth factor; low-affinity platelet factor IV; macrophage-derived growth factor; neutrophil-activating peptide 2; platelet basic protein preproprotein; platelet basic protein; small inducible cytokine B7; small inducible cytokine subfamily B, member 7; thrombocidin 1; thrombocidin 2; thromboglobulin, beta-1", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); atrial fibrillation (Disease Ontology:DOID:0060224); aortic atherosclerosis (Disease Ontology:DOID:10230); hypospadias (Disease Ontology:DOID:10892); adult respiratory distress syndrome (Disease Ontology:DOID:11394); familial hyperlipidemia (Disease Ontology:DOID:1168); brain ischemia (Disease Ontology:DOID:2316); antiphospholipid syndrome (Disease Ontology:DOID:2988); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); acute myocardial infarction (Disease Ontology:DOID:9408); type 1 diabetes mellitus (Disease Ontology:DOID:9744); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:5473); (R-HSA-114608); (R-HSA-380108); (R-HSA-418594); (R-HSA-6798695)", "pathway_count": 5, "publication_count": 94, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;10877842;11007482;11060282;11468158;12120503;12149255;12554737;12665801;12884299;1435334;14630798;15067078;15297306;15340161;15951850;16107333;16634148;16923326;1744577;1826003;1840701;18434541;18577758;1891716;20002784;2007144;2078213;2217207;23640497;23650620;2406364;2423119;2522778;2534964;26154972;26992070;2713489;2748346;2783111;27862975;2834384;28832583;29557506;29632711;2970963;30429286;3098319;31154438;31848261;3260265;33123756;35332176;35580925;35734636;36184052;37115730;6457647;6572368;7602097;7622448;7642634;7679328;7706245;77677;7851893;7875320;7890771;7937899;8015379;8034022;8048929;8383238;8406495;8467233;8639485;8692836;8849694;8950790;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518;9794434", "class_list": "glycogene", "function": "An Evaluation of Platelet Factor 4, Beta-Thromboglobulin and Mean Platelet Volume in the Assessment of Thrombotic Risks in Subjects with Diabetes Mellitus at Lagos State University Teaching Hospital, Ikeja, Lagos, Nigeria., [RefSeq, PubMed]; CXCL7 aggravates the pathological manifestations of neuromyelitis optica spectrum disorder by enhancing the inflammatory infiltration of neutrophils, macrophages and microglia., [RefSeq, PubMed]; LA-PF4 stimulates DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by human synovial cells. NAP-2 is a ligand for CXCR1 and CXCR2, and NAP-2, NAP-2(73), NAP-2(74), NAP-2(1-66), and most potent NAP-2(1-63) are chemoattractants and activators for neutrophils. TC-1 and TC-2 are antibacterial proteins, in vitro released from activated platelet alpha-granules. CTAP-III(1-81) is more potent than CTAP-III desensitize chemokine-induced neutrophil activation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PPBP gene as a biomarker for coronary heart disease risk in postmenopausal Thai women. Publication Status: Online-Only, [RefSeq, PubMed]; SWATH-MS identification of CXCL7, LBP, TGFbeta1 and PDGFRbeta as novel biomarkers in human systemic mastocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; The antimicrobial thrombocidin peptides are found in human blood platelets, are deletion products of CXC chemokines and have antibacterial and antifungal activity., [RefSeq, PubMed]; The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. The protein also is an antimicrobial protein with bactericidal and antifungal activity. [provided by RefSeq, Nov 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 187, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5F3;Q6IBJ8", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity;GO:0008009 chemokine activity;GO:0045236 CXCR chemokine receptor binding;GO:0055056 D-glucose transmembrane transporter activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031093 platelet alpha granule lumen;GO:1904724 tertiary granule lumen", "go_biological_process": "GO:1904659 D-glucose transmembrane transport;GO:0006954 inflammatory response;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0071222 cellular response to lipopolysaccharide;GO:0051781 positive regulation of cell division", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P02775-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08574-1", "uniprot_id": [ { "id": "CY1_HUMAN", "url": "https://www.uniprot.org/uniprot/P08574", "type": "external" } ], "mass": 35422.0, "length": 325, "protein_name": "Cytochrome c1, heme protein, mitochondrial", "gene_name": "CYC1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CYC1", "gene_names_refseq": "", "protein_names_uniprotkb": "Cytochrome c1, heme protein, mitochondrial; 7.1.1.8; Complex III subunit 4; Complex III subunit IV; Cytochrome b-c1 complex subunit 4; Cytochrome c-1; Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit", "protein_names_refseq": "", "tax_id": 9606, "disease": "mitochondrial complex III deficiency nuclear type 6 (Disease Ontology:DOID:0080115)", "pathway": " (hsa:1537); (R-HSA-1268020); (R-HSA-611105); (R-HSA-9865881)", "pathway_count": 4, "publication_count": 108, "publication_id_list": "10327278;10453733;11695836;12231006;12837546;1327877;14726512;14741580;15250827;15254020;15644312;15683237;16185709;16230336;16849325;17033964;17510655;18174896;186667;18678864;19409522;19453276;19767391;19962426;20593814;21278747;21750375;23041349;23150584;23168492;23186163;23270816;23564345;23597483;23747254;23811401;23910460;239860;24385928;24714562;24715725;25008109;25315652;2536365;25418920;25564869;25576301;25605331;25880248;26697887;26728094;26811146;26992070;27600516;27846572;27920218;28228285;2836796;28380382;28510447;28673544;28832583;28844695;28904123;29242379;29243944;29331515;29393594;29632046;29769354;30315122;3036122;30524438;30833945;31092671;31217245;31611695;31844290;31998317;32157095;32161166;32265295;32387766;32488085;32897882;32929120;32938616;33141586;33214551;33298915;33592498;33717175;33912179;33936100;33968037;34087483;34229054;34357683;34405274;34969438;35051231;35580925;36010968;36215666;36241641;38665916;4288886;9878551", "class_list": "", "function": "Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c. Cytochrome c1 is a catalytic core subunit containing a c-type heme. It transfers electrons from the [2Fe-2S] iron-sulfur cluster of the Rieske protein to cytochrome c., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5U062;Q6FHS7", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "7.1.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.8", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0008121 quinol-cytochrome-c reductase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0045275 respiratory chain complex III", "go_biological_process": "GO:0033762 response to glucagon;GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P08574-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DML3-1", "uniprot_id": [ { "id": "CSH2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DML3", "type": "external" } ], "mass": 24994.0, "length": 217, "protein_name": "Chorionic somatomammotropin hormone 2", "gene_name": "CSH2", "organism": "Human", "refseq_name": "chorionic somatomammotropin hormone 2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_066271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066271", "type": "external" } ], "gene_names_uniprotkb": "CSH2", "gene_names_refseq": "CS-2; CSB; CSH2; GHB1; PL; hCS-B", "protein_names_uniprotkb": "Chorionic somatomammotropin hormone 2; Choriomammotropin; Lactogen; PL; Placental lactogen", "protein_names_refseq": "choriomammotropin; chorionic somatomammotropin B; chorionic somatomammotropin hormone 2 isoform 1 precursor; growth hormone B1; placental lactogen", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); isolated growth hormone deficiency type II (Disease Ontology:DOID:0060872); osteoporosis (Disease Ontology:DOID:11476); alcohol use disorder (Disease Ontology:DOID:1574); primary ovarian insufficiency (Disease Ontology:DOID:5426); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1442); (hsa:1443)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "16546209;18473352;21737519;22387044;2744760;29203878;3030680;32157095;35051231;35580925;438159;4712450;5286363;593368;6300056;7169009", "class_list": "", "function": "Data conclude that members of the C/EBP and Ets families can differentially modulate CS-Benh and CS-Aenh activity. Publication Status: Online-Only, [RefSeq, PubMed]; Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization., [UniProtKB, PubMed]; Results are consistent with a pleiotropic effect of placental hGH/CSH genes at the maternal-fetal interface relating to the regulation of fetal growth and the risk of affected maternal metabolism., [RefSeq, PubMed]; The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P01243;Q0VDB1;Q14407", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005179 hormone activity;GO:0008083 growth factor activity;GO:0005131 growth hormone receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0031982 vesicle", "go_biological_process": "GO:0031667 response to nutrient levels;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT;GO:0048513 animal organ development;GO:0060396 growth hormone receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P0DML3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMV1-1", "uniprot_id": [ { "id": "CT458_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMV1", "type": "external" } ], "mass": 21363.0, "length": 189, "protein_name": "Cancer/testis antigen family 45 member A8", "gene_name": "CT45A8", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CT45A8", "gene_names_refseq": "", "protein_names_uniprotkb": "Cancer/testis antigen family 45 member A8; Cancer/testis antigen 45A8", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723680); (hsa:102723737); (hsa:728911)", "pathway_count": 3, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DMV1-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMV2-1", "uniprot_id": [ { "id": "CT459_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMV2", "type": "external" } ], "mass": 21363.0, "length": 189, "protein_name": "Cancer/testis antigen family 45 member A9", "gene_name": "CT45A9", "organism": "Human", "refseq_name": "cancer/testis antigen family 45 member A8", "refseq_ac": [ { "id": "NP_001278464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278464", "type": "external" } ], "gene_names_uniprotkb": "CT45A9", "gene_names_refseq": "CT45A8", "protein_names_uniprotkb": "Cancer/testis antigen family 45 member A9; Cancer/testis antigen 45A9", "protein_names_refseq": "cancer/testis antigen 45A8; cancer/testis antigen family 45 member A8", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723680); (hsa:102723737); (hsa:728911)", "pathway_count": 3, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DMV2-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19876-1", "uniprot_id": [ { "id": "CXCL3_HUMAN", "url": "https://www.uniprot.org/uniprot/P19876", "type": "external" } ], "mass": 11342.0, "length": 107, "protein_name": "C-X-C motif chemokine 3", "gene_name": "CXCL3", "organism": "Human", "refseq_name": "C-X-C motif chemokine 3 precursor", "refseq_ac": [ { "id": "NP_002081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002081", "type": "external" } ], "gene_names_uniprotkb": "CXCL3; GRO3; GROG; SCYB3", "gene_names_refseq": "CINC-2b; CXCL3; GRO3; GROg; MIP-2b; MIP2B; SCYB3", "protein_names_uniprotkb": "C-X-C motif chemokine 3; GRO-gamma(1-73); GRO-gamma; Growth-regulated protein gamma; MIP2-beta; Macrophage inflammatory protein 2-beta", "protein_names_refseq": "C-X-C motif chemokine 3 precursor; C-X-C motif chemokine 3; GRO-gamma(1-73); GRO-gamma; GRO3 oncogene; MGSA gamma; MIP2-beta; chemokine (C-X-C motif) ligand 3; growth-regulated protein gamma; macrophage inflammatory protein 2-beta; melanoma growth stimulatory activity gamma", "tax_id": 9606, "disease": "aspiration pneumonia (Disease Ontology:DOID:0050152); stroke (Disease Ontology:DOID:0051061); alcohol-associated liver disease (Disease Ontology:DOID:0070658); Coronavirus infectious disease (Disease Ontology:DOID:0080599); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); viral pneumonia (Disease Ontology:DOID:10533); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); dilated cardiomyopathy (Disease Ontology:DOID:12930); interstitial cystitis (Disease Ontology:DOID:13949); prostatitis (Disease Ontology:DOID:14654); status epilepticus (Disease Ontology:DOID:1824); severe acute respiratory syndrome (Disease Ontology:DOID:2945); esophageal cancer (Disease Ontology:DOID:5041); pneumonia (Disease Ontology:DOID:552); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874)", "pathway": " (hsa:2921); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10095777;10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;12120503;12149255;12554737;12884299;12949249;15067078;15340161;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2201751;2217207;2423119;2534964;2748346;2834384;29242379;2970963;29789417;3098319;31848261;3260265;32938616;32983136;35051231;36343679;38031087;38489741;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "CXCL3 displays antimicrobial activity against E. coli and S. aureus., [RefSeq, PubMed]; Chronic restraint stress promotes the tumorigenic potential of oral squamous cell carcinoma cells by reprogramming fatty acid metabolism via CXCL3 mediated Wnt/beta-catenin pathway., [RefSeq, PubMed]; Comprehensive analysis of the clinical and biological significances for chemokine CXCL3 in cholangiocarcinoma., [RefSeq, PubMed]; Elevated expression of CXCL3 in colon cancer promotes malignant behaviors of tumor cells in an ERK-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; Ligand for CXCR2 (By similarity). Has chemotactic activity for neutrophils. May play a role in inflammation and exert its effects on endothelial cells in an autocrine fashion. In vitro, the processed form GRO-gamma(5-73) shows a fivefold higher chemotactic activity for neutrophilic granulocytes., [UniProtKB, PubMed]; This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. [provided by RefSeq, Sep 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4W5H9", "ec_number_list": [], "go_molecular_function": "GO:0008009 chemokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0030593 neutrophil chemotaxis", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P19876-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48165-1", "uniprot_id": [ { "id": "CXA8_HUMAN", "url": "https://www.uniprot.org/uniprot/P48165", "type": "external" } ], "mass": 48229.0, "length": 433, "protein_name": "Gap junction alpha-8 protein", "gene_name": "GJA8", "organism": "Human", "refseq_name": "gap junction alpha-8 protein", "refseq_ac": [ { "id": "NP_005258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005258", "type": "external" } ], "gene_names_uniprotkb": "GJA8", "gene_names_refseq": "CAE1; CAE; CTRCT1; CX50; CZP1; GJA8; MP70", "protein_names_uniprotkb": "Gap junction alpha-8 protein; Connexin-50; Cx50; Lens fiber protein MP70", "protein_names_refseq": "cell surface glycoprotein; connexin 50; gap junction alpha 8; gap junction alpha-8 protein; gap junction membrane channel protein alpha-8; gap junction protein alpha 8 50kDa; lens fiber protein MP70; lens intrinsic membrane protein MP70", "tax_id": 9606, "disease": "cataract 1 multiple types (Disease Ontology:DOID:0110231); microphthalmia (Disease Ontology:DOID:10629); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:2703); (R-HSA-190861)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10191254;10480374;11846744;14627691;15536180;16234473;16397066;16604058;17200141;18006672;1850831;18587493;19182255;19756179;21174522;21454606;21686328;21921990;23508780;26004348;28690483;28839118;35051231;35494241;35531093;35580925;36262071;38052906;38145302;7796604;7929580;9497259", "class_list": "", "function": "Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome., [RefSeq, PubMed]; Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43., [RefSeq, PubMed]; Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait., [RefSeq, PubMed]; Structural component of eye lens gap junctions (PubMed:18006672, PubMed:19756179). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:18006672, PubMed:19756179)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7L5M5;Q5VVN9;Q9NP25", "ec_number_list": [], "go_molecular_function": "GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:1990349 gap junction-mediated intercellular transport", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P48165-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49682-1", "uniprot_id": [ { "id": "CXCR3_HUMAN", "url": "https://www.uniprot.org/uniprot/P49682", "type": "external" } ], "mass": 40660.0, "length": 368, "protein_name": "C-X-C chemokine receptor type 3", "gene_name": "CXCR3", "organism": "Human", "refseq_name": "C-X-C chemokine receptor type 3 isoform 2", "refseq_ac": [ { "id": "NP_001136269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136269", "type": "external" } ], "gene_names_uniprotkb": "CXCR3; GPR9", "gene_names_refseq": "CD182; CD183; CKR-L2; CMKAR3; CXCR3; GPR9; IP10-R; Mig-R; MigR", "protein_names_uniprotkb": "C-X-C chemokine receptor type 3; CKR-L2; CXC-R3; CXCR-3; G protein-coupled receptor 9; IP-10 receptor; Interferon-inducible protein 10 receptor", "protein_names_refseq": "C-X-C chemokine receptor type 3 isoform 2; C-X-C chemokine receptor type 3; G protein-coupled receptor 9; IP-10 receptor; Mig receptor; chemokine (C-X-C motif) receptor 3; chemokine receptor 3; interferon-inducible protein 10 receptor", "tax_id": 9606, "disease": "invasive aspergillosis (Disease Ontology:DOID:0050073); dilated cardiomyopathy (Disease Ontology:DOID:12930); pulmonary sarcoidosis (Disease Ontology:DOID:13406); thoracic aortic aneurysm (Disease Ontology:DOID:14004); cystic fibrosis (Disease Ontology:DOID:1485); renovascular hypertension (Disease Ontology:DOID:1591); asthma (Disease Ontology:DOID:2841); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); middle cerebral artery infarction (Disease Ontology:DOID:3525); systemic scleroderma (Disease Ontology:DOID:418); coronary restenosis (Disease Ontology:DOID:4247); myasthenia gravis (Disease Ontology:DOID:437); rheumatoid arthritis (Disease Ontology:DOID:7148); myocarditis (Disease Ontology:DOID:820); extrinsic allergic alveolitis (Disease Ontology:DOID:841); ulcerative colitis (Disease Ontology:DOID:8577); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:2833); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10201891;10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11196695;12120503;12149255;12554737;12782716;12884299;15067078;15528361;15951850;16107333;16634148;16847335;16923326;1744577;18174362;18291705;1840701;18434541;18577758;1891716;19151743;20002784;2078213;20855888;2217207;23121557;2423119;24469069;24714562;24715725;2534964;26154972;2748346;27846572;2834384;28832583;28904123;29242379;29557506;29632711;2970963;30315122;30429286;3098319;31217245;31844290;32350084;32357974;32502341;3260265;33298915;33912179;34357683;35051231;35154160;37937817;37952216;38307410;39429695;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8666380;8849694;9024663;9064356;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518;9625760", "class_list": "", "function": "Hyperactivation of beta-catenin signal in hepatocellular carcinoma recruits myeloid-derived suppressor cells through PF4-CXCR3 axis., [RefSeq, PubMed]; Mediates the activity of CXCL11., [UniProtKB]; Receptor for the C-X-C chemokine CXCL4 and also mediates the inhibitory activities of CXCL9, CXCL10 and CXCL11 on the proliferation, survival and angiogenic activity of human microvascular endothelial cells (HMVEC) through a cAMP-mediated signaling pathway (PubMed:12782716). Does not promote cell chemotaxis response. Interaction with CXCL4 or CXCL10 leads to activation of the p38MAPK pathway and contributes to inhibition of angiogenesis. Overexpression in renal cancer cells down-regulates expression of the anti-apoptotic protein HMOX1 and promotes apoptosis., [UniProtKB, PubMed]; Receptor for the C-X-C chemokines CXCL9, CXCL10 and CXCL11, and mediates the proliferation, survival and angiogenic activity of human mesangial cells (HMC) through a heterotrimeric G-protein signaling pathway (PubMed:12782716). Probably promotes cell chemotaxis response. Upon activation by PF4, induces activated T-lymphocyte migration mediated via downstream Ras/extracellular signal-regulated kinase (ERK) signaling., [UniProtKB, PubMed, PubMed, PubMed]; The CXCL10-CXCR3 axis plays an important role in Kawasaki disease., [RefSeq, PubMed]; The IFN-gamma-CXCL9/CXCL10-CXCR3 axis in vitiligo: Pathological mechanism and treatment. Review article, [RefSeq, PubMed]; The Role of CXCR3 in Nervous System-Related Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a G protein-coupled receptor with selectivity for three chemokines, termed CXCL9/Mig (monokine induced by interferon-g), CXCL10/IP10 (interferon-g-inducible 10 kDa protein) and CXCL11/I-TAC (interferon-inducible T cell a-chemoattractant). Binding of chemokines to this protein induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the isoforms (CXCR3-B) shows high affinity binding to chemokine, CXCL4/PF4 (PMID:12782716). [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 18, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R982;O15185;Q7Z710;Q9P2T4;Q9P2T5", "ec_number_list": [], "go_molecular_function": "GO:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0016494 C-X-C chemokine receptor activity;GO:0019957 C-C chemokine binding;GO:0019958 C-X-C chemokine binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "P49682-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52569-1", "uniprot_id": [ { "id": "CTR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P52569", "type": "external" } ], "mass": 71673.0, "length": 658, "protein_name": "Cationic amino acid transporter 2", "gene_name": "SLC7A2", "organism": "Human", "refseq_name": "cationic amino acid transporter 2 isoform 2", "refseq_ac": [ { "id": "NP_001008539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008539", "type": "external" } ], "gene_names_uniprotkb": "SLC7A2; ATRC2; CAT2", "gene_names_refseq": "ATRC2; CAT-2A; CAT-2B; CAT2; HCAT2; SLC7A2A; SLC7A2B; SLC7A2", "protein_names_uniprotkb": "Cationic amino acid transporter 2; CAT-2; CAT2; Low affinity cationic amino acid transporter 2; Solute carrier family 7 member 2", "protein_names_refseq": "cationic amino acid transporter 2 isoform 2; low affinity cationic amino acid transporter 2; solute carrier family 7 (cationic amino acid transporter, y+ system), member 2", "tax_id": 9606, "disease": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Disease Ontology:DOID:0111666)", "pathway": " (hsa:6542)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11665818;18669648;18767875;20068231;20166139;23186163;24190977;24275569;28218747;28684763;28832583;29393594;29493099;29557506;29632046;30078552;30315122;30779550;31154438;31848261;31998317;33537174;33592498;33633747;33691108;33968037;33981976;34087483;35051231;35318648;35494241;35580925;36010968;36241641;36639771;38203268;38419038;38842202;8954799;9174363", "class_list": "", "function": "Analysis of the genomic organization, [RefSeq, PubMed]; Elevated SLC7A2 expression is associated with an abnormal neuroinflammatory response and nitrosative stress in Huntington's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a low-affinity, high capacity permease involved in the transport of the cationic amino acids (L-arginine, L-lysine, L-ornithine and L-homoarginine)., [UniProtKB, PubMed, PubMed]; Functions as a permease involved in the transport of the cationic amino acids (L-arginine, L-lysine, L-ornithine and L-homoarginine); the affinity for its substrates differs between isoforms created by alternative splicing (PubMed:28684763, PubMed:9174363). May play a role in classical or alternative activation of macrophages via its role in arginine transport (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Functions as a permease that mediates the transport of the cationic amino acids (L-arginine, L-lysine, L-ornithine and L-homoarginine). Shows a much higher affinity for L-arginine and L-homoarginine than isoform 2., [UniProtKB, PubMed, PubMed]; Integrated Amino Acids and Transcriptome Analysis Reveals Arginine Transporter SLC7A2 Is a Novel Regulator of Myogenic Differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; Lower SLC7A2 expression is associated with enhanced multidrug resistance, less immune infiltrates and worse prognosis of NSCLC. Publication Status: Online-Only, [RefSeq, PubMed]; SLC7A2-Mediated Lysine Catabolism Inhibits Immunosuppression in Triple Negative Breast Cancer., [RefSeq, PubMed]; The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 9848, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL54;O15291;O15292;Q14CQ6;Q6NSZ7;Q86TC6", "ec_number_list": [], "go_molecular_function": "GO:0000064 L-ornithine transmembrane transporter activity;GO:0015179 L-amino acid transmembrane transporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0015174 basic amino acid transmembrane transporter activity;GO:0015189 L-lysine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030054 cell junction", "go_biological_process": "GO:0006865 amino acid transport;GO:1902475 L-alpha-amino acid transmembrane transport;GO:0097638 L-arginine import across plasma membrane;GO:1903352 L-ornithine transmembrane transport;GO:1903826 L-arginine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P52569-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78310-1", "uniprot_id": [ { "id": "CXAR_HUMAN", "url": "https://www.uniprot.org/uniprot/P78310", "type": "external" } ], "mass": 40030.0, "length": 365, "protein_name": "Coxsackievirus and adenovirus receptor", "gene_name": "CXADR", "organism": "Human", "refseq_name": "coxsackievirus and adenovirus receptor isoform 2 precursor", "refseq_ac": [ { "id": "NP_001193992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193992", "type": "external" } ], "gene_names_uniprotkb": "CXADR; CAR", "gene_names_refseq": "CAR4/6; CAR; CXADR; HCAR", "protein_names_uniprotkb": "Coxsackievirus and adenovirus receptor; CAR; CVB3-binding protein; Coxsackievirus B-adenovirus receptor; HCVADR; hCAR", "protein_names_refseq": "46 kD coxsackievirus and adenovirus receptor (CAR) protein; CVB3-binding protein; CXADR Ig-like cell adhesion molecule; HCVADR; coxsackie virus and adenovirus receptor; coxsackievirus B-adenovirus receptor; coxsackievirus and adenovirus receptor isoform 2 precursor", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); familial erythrocytosis 5 (Disease Ontology:DOID:0080290); Alzheimer's disease (Disease Ontology:DOID:10652); diabetic angiopathy (Disease Ontology:DOID:11713); nephrotic syndrome (Disease Ontology:DOID:1184); neurodegenerative disease (Disease Ontology:DOID:1289); retinopathy of prematurity (Disease Ontology:DOID:13025); porphyria (Disease Ontology:DOID:13268); Diamond-Blackfan anemia (Disease Ontology:DOID:1339); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); transient cerebral ischemia (Disease Ontology:DOID:224); anemia (Disease Ontology:DOID:2355); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); middle cerebral artery infarction (Disease Ontology:DOID:3525); placental insufficiency (Disease Ontology:DOID:3891); macular retinal edema (Disease Ontology:DOID:4449); cholangiocarcinoma (Disease Ontology:DOID:4947); retinal detachment (Disease Ontology:DOID:5327); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); vascular dementia (Disease Ontology:DOID:8725); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:1525); (R-HSA-198933); (R-HSA-202733)", "pathway_count": 3, "publication_count": 191, "publication_id_list": "10.1101/2023.09.13.557529;10490761;10499918;10543405;10567268;10606205;10666333;10746781;10764623;10814575;11080637;11207550;11256994;11265639;11316797;11457744;11489943;11513152;11549277;11556966;11564780;11573093;11734628;11779189;11807247;11812992;11857637;11858820;11861603;11955593;11955595;11955599;12021372;12070135;12208882;12213321;12297051;12468544;12469115;12483297;12588680;12782713;14529530;14615387;14719373;14967025;14970179;14978041;15000751;15034010;15136729;15155468;15187158;15302935;15304001;15304526;15364909;15528364;15533241;15534202;15541655;15580655;15607800;15681301;15721307;15778510;15781451;15800062;15851719;15864273;1591491;16014749;16091383;16129954;16258728;16297198;16339513;16380601;16551255;16585556;16691243;16737824;16737840;16754721;16783819;16893496;16904340;16928187;17045824;17057721;17064312;17099249;17116209;17167768;17172599;17237375;17322099;17337780;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18031695;18037897;18055229;18209062;18234675;18593354;18669648;19064666;19119424;19149696;19279206;19359216;19413330;19592130;19664994;19664995;19901323;20068231;20730098;21193412;21241660;21659548;21800138;21841309;21877119;22299025;22396535;23186163;23695528;23929856;23945545;24043627;24096322;24190977;24305946;24764293;2538457;25703557;25716998;26284469;26300885;29093164;29741879;32334832;32852032;32938616;33537174;33592498;33981976;34171305;35051231;35289036;36010968;36215666;37074911;37340703;37759441;38146657;40596516;468991;7509040;7521878;7531291;7542404;8163559;8166770;8178173;8314844;8995416;9036860;9052782;9096397;9169774;9242610;9285412;9295288;9314561;9382878;9693095;9700512;9730896;9733828;9763524", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Coxsackievirus B1 to B6., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as a receptor for adenovirus type C., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; CAR Protects Females from Diet-Induced Steatosis and Associated Metabolic Disorders. Publication Status: Online-Only, [RefSeq, PubMed]; CXADR promote epithelial-mesenchymal transition in endometriosis by modulating AKT/GSK-3beta signaling., [RefSeq, PubMed]; Component of the epithelial apical junction complex that may function as a homophilic cell adhesion molecule and is essential for tight junction integrity. Also involved in transepithelial migration of leukocytes through adhesive interactions with JAML a transmembrane protein of the plasma membrane of leukocytes. The interaction between both receptors also mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downstream cell signaling events in gamma-delta T-cells through PI3-kinase and MAP kinases. It results in proliferation and production of cytokines and growth factors by T-cells that in turn stimulate epithelial tissues repair., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Induction of the Coxsackievirus and Adenovirus Receptor in Macrophages During the Formation of Atherosclerotic Plaques., [RefSeq, PubMed]; Naturally occurring variants in the transmembrane and cytoplasmic domains of the human Coxsackie- and adenovirus receptor have no impact on virus internalisation., [RefSeq, PubMed]; The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 31, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B2R8V8;B7WPI3;D3YHP0;O00694;Q8WWT6;Q8WWT7;Q8WWT8;Q9UKV4", "ec_number_list": [], "go_molecular_function": "GO:0071253 connexin binding;GO:0005102 signaling receptor binding;GO:0005178 integrin binding;GO:0042802 identical protein binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0034109 homotypic cell-cell adhesion;GO:0007507 heart development;GO:0051607 defense response to virus;GO:0030036 actin cytoskeleton organization;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "P78310-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02221-1", "uniprot_id": [ { "id": "CX6A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02221", "type": "external" } ], "mass": 10815.0, "length": 97, "protein_name": "Cytochrome c oxidase subunit 6A2, mitochondrial", "gene_name": "COX6A2", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 6A2, mitochondrial precursor", "refseq_ac": [ { "id": "NP_005196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005196", "type": "external" } ], "gene_names_uniprotkb": "COX6A2; COX6AH; COX6A", "gene_names_refseq": "COX6A2; COX6AH; COXVIAH; COXVIa-M; MC4DN18", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 6A2, mitochondrial; COX VIa-M; COXVIAH; Cytochrome c oxidase polypeptide VIa-heart; Cytochrome c oxidase subunit VIA-muscle", "protein_names_refseq": "COX VIa-M; cytochrome c oxidase polypeptide VIa-heart; cytochrome c oxidase subunit 6A2, mitochondrial precursor; cytochrome c oxidase subunit 6A2, mitochondrial; cytochrome c oxidase subunit VIA-muscle; cytochrome c oxidase subunit VIa polypeptide 2", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); chronic venous insufficiency (Disease Ontology:DOID:0050853); colitis (Disease Ontology:DOID:0060180); mitochondrial complex IV deficiency nuclear type 18 (Disease Ontology:DOID:0070503); alcohol-associated liver disease (Disease Ontology:DOID:0070658); colorectal carcinoma (Disease Ontology:DOID:0080199); Graves ophthalmopathy (Disease Ontology:DOID:0081120); sensorineural hearing loss (Disease Ontology:DOID:10003); osteonecrosis (Disease Ontology:DOID:10159); Raynaud disease (Disease Ontology:DOID:10300); pneumoconiosis (Disease Ontology:DOID:10316); retinitis pigmentosa (Disease Ontology:DOID:10584); otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); essential hypertension (Disease Ontology:DOID:10825); sciatic neuropathy (Disease Ontology:DOID:11446); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); optic neuritis (Disease Ontology:DOID:1210); tympanosclerosis (Disease Ontology:DOID:1214); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289); dilated cardiomyopathy (Disease Ontology:DOID:12930); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); background diabetic retinopathy (Disease Ontology:DOID:13208); Behcet's disease (Disease Ontology:DOID:13241); angle-closure glaucoma (Disease Ontology:DOID:13550); cholestasis (Disease Ontology:DOID:13580); hypothyroidism (Disease Ontology:DOID:1459); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); keratosis (Disease Ontology:DOID:161); cystitis (Disease Ontology:DOID:1679); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); brain ischemia (Disease Ontology:DOID:2316); nephrosis (Disease Ontology:DOID:2527); acatalasia (Disease Ontology:DOID:2582); pseudoxanthoma elasticum (Disease Ontology:DOID:2738); asthma (Disease Ontology:DOID:2841); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); familial Mediterranean fever (Disease Ontology:DOID:2987); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); breast adenocarcinoma (Disease Ontology:DOID:3458); toxic encephalopathy (Disease Ontology:DOID:3602); gastric adenocarcinoma (Disease Ontology:DOID:3717); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); pulmonary fibrosis (Disease Ontology:DOID:3770); papillary thyroid carcinoma (Disease Ontology:DOID:3969); ureteral obstruction (Disease Ontology:DOID:5199); retinal disease (Disease Ontology:DOID:5679); myocardial infarction (Disease Ontology:DOID:5844); nephrolithiasis (Disease Ontology:DOID:585); congestive heart failure (Disease Ontology:DOID:6000); fibromyalgia (Disease Ontology:DOID:631); acne (Disease Ontology:DOID:6543); amphetamine abuse (Disease Ontology:DOID:670); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); hyperthyroidism (Disease Ontology:DOID:7998); scabies (Disease Ontology:DOID:8295); cataract (Disease Ontology:DOID:83); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); seborrheic dermatitis (Disease Ontology:DOID:8741); psoriasis (Disease Ontology:DOID:8893); mitochondrial encephalomyopathy (Disease Ontology:DOID:890); diabetic retinopathy (Disease Ontology:DOID:8947); cutaneous leishmaniasis (Disease Ontology:DOID:9111); pemphigus (Disease Ontology:DOID:9182); lichen planus (Disease Ontology:DOID:9201); phenylketonuria (Disease Ontology:DOID:9281); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); stomatitis (Disease Ontology:DOID:9637); senile cataract (Disease Ontology:DOID:9669); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719)", "pathway": " (hsa:1339); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 115, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1327877;1327966;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;186667;18692468;19113821;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20929863;21750704;21958598;22342701;22363791;22427940;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24718924;25564869;25579166;25926683;25959673;26321642;26652033;27693358;28082314;28199844;28330871;28698372;29154948;29557506;31155743;31536960;32317297;32375044;32744742;3427020;34686767;3475708;34969438;35750769;38072986;4288886;5666113;6094553;7979252;7989588;8119488;9177785;9843204;9878551;9926927", "class_list": "", "function": "Bi-allelic variants in COX6A2 cause a striated muscle-specific form of COX deficiency., [RefSeq, PubMed]; COX6A2 deficiency leads to cardiac remodeling in human pluripotent stem cell-derived cardiomyocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Complex IV subunit isoform COX6A2 protects fast-spiking interneurons from oxidative stress and supports their function., [RefSeq, PubMed]; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. Plays a role in the assembly and stabilization of complex IV (PubMed:31155743)., [UniProtKB, UniProtKB, PubMed]; Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]., [RefSeq]; Mitochondrial, exosomal miR137-COX6A2 and gamma synchrony as biomarkers of parvalbumin interneurons, psychopathology, and neurocognition in schizophrenia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 80, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00761;Q6GTW6", "ec_number_list": [], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q02221-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q49AN0-1", "uniprot_id": [ { "id": "CRY2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q49AN0", "type": "external" } ], "mass": 66947.0, "length": 593, "protein_name": "Cryptochrome-2", "gene_name": "CRY2", "organism": "Human", "refseq_name": "cryptochrome-2 isoform 2", "refseq_ac": [ { "id": "NP_001120929", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120929", "type": "external" } ], "gene_names_uniprotkb": "CRY2; KIAA0658", "gene_names_refseq": "CRY2; HCRY2; PHLL2", "protein_names_uniprotkb": "Cryptochrome-2", "protein_names_refseq": "cryptochrome 2 (photolyase-like); cryptochrome circadian clock 2; cryptochrome-2 isoform 2; cryptochrome-2; growth-inhibiting protein 37", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 18 (Disease Ontology:DOID:0070503); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); mitochondrial encephalomyopathy (Disease Ontology:DOID:890)", "pathway": " (hsa:1408); (R-HSA-9931510); (R-HSA-9931521); (R-HSA-9931530); (R-HSA-9932298)", "pathway_count": 5, "publication_count": 82, "publication_id_list": "10531061;10790862;10857746;11165242;11232563;11237011;11889036;14672706;14750904;15298678;15800623;15917222;16790549;17463251;17994337;18317514;1971514;19805222;20123978;22798407;23303907;23452856;23916625;24715725;25418920;25576301;25855785;25892735;26569474;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28832583;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29784789;29786170;30315122;30410026;30530698;31138685;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32502341;32938616;33298915;33537174;33592498;33936100;33968037;34171305;34185709;34405274;34509645;34561969;34932366;35051231;35251023;35580925;35933018;36010968;37724597;37938771;37951306;38537935;8909283;9801304", "class_list": "", "function": "Cryptochrome 2 Suppresses Epithelial-Mesenchymal Transition by Promoting Trophoblastic Ferroptosis in Unexplained Recurrent Spontaneous Abortion., [RefSeq, PubMed]; Functional characterization of the CRY2 circadian clock component variant p.Ser420Phe revealed a new degradation pathway for CRY2., [RefSeq, PubMed]; The secondary pocket of cryptochrome 2 is important for the regulation of its stability and localization., [RefSeq, PubMed]; This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]., [RefSeq]; Transcription Repression of CRY2 via PER2 Interaction Promotes Adipogenesis., [RefSeq, PubMed]; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. CRY1 and CRY2 have redundant functions but also differential and selective contributions at least in defining the pace of the SCN circadian clock and its circadian transcriptional outputs. Less potent transcriptional repressor in cerebellum and liver than CRY1, though less effective in lengthening the period of the SCN oscillator. Seems to play a critical role in tuning SCN circadian period by opposing the action of CRY1. With CRY1, dispensable for circadian rhythm generation but necessary for the development of intercellular networks for rhythm synchrony. May mediate circadian regulation of cAMP signaling and gluconeogenesis by blocking glucagon-mediated increases in intracellular cAMP concentrations and in CREB1 phosphorylation. Besides its role in the maintenance of the circadian clock, is also involved in the regulation of other processes. Plays a key role in glucose and lipid metabolism modulation, in part, through the transcriptional regulation of genes involved in these pathways, such as LEP or ACSL4. Represses glucocorticoid receptor NR3C1/GR-induced transcriptional activity by binding to glucocorticoid response elements (GREs). Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1. Represses the CLOCK-BMAL1 induced transcription of NAMPT (By similarity). Represses PPARD and its target genes in the skeletal muscle and limits exercise capacity (By similarity). Represses the transcriptional activity of NR1I2 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DH32;B4DZD6;O75148;Q8IV71", "ec_number_list": [], "go_molecular_function": "GO:0009882 blue light photoreceptor activity;GO:0003677 DNA binding;GO:0019901 protein kinase binding;GO:0071949 FAD binding;GO:0003684 damaged DNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0009785 blue light signaling pathway;GO:2000850 negative regulation of glucocorticoid secretion;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q49AN0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G0I0-1", "uniprot_id": [ { "id": "UQCC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G0I0", "type": "external" } ], "mass": 15004.0, "length": 132, "protein_name": "Ubiquinol-cytochrome c reductase complex assembly factor 4", "gene_name": "UQCC4", "organism": "Human", "refseq_name": "ubiquinol-cytochrome c reductase complex assembly factor 4 precursor", "refseq_ac": [ { "id": "NP_001258980", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258980", "type": "external" } ], "gene_names_uniprotkb": "UQCC4; C16orf91; CCSMST1", "gene_names_refseq": "C16orf91; CCSMST1; UQCC4; URLC5; gs103", "protein_names_uniprotkb": "Ubiquinol-cytochrome c reductase complex assembly factor 4; Protein CCSMST1", "protein_names_refseq": "cattle cerebrum and skeletal muscle-specific protein 1 family member; ubiquinol-cytochrome c reductase complex assembly factor 4 precursor; up-regulated in lung cancer 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:283951)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1038/emboj.2013.79;22645359;23584533;25576301;25880248;26375851;26992070;28832583;28904123;30779550;31844290;32157095;33298915;33968037;33981976;34171305", "class_list": "", "function": "Required for the assembly and stability of the mitochondrial ubiquinol-cytochrome c reductase complex (complex III (CIII) or cytochrome b-c1 complex), a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain (ETC) which drives oxidative phosphorylation., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96RZ0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0022904 respiratory electron transport chain;GO:0034551 mitochondrial respiratory chain complex III assembly", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q4G0I0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TZA2-1", "uniprot_id": [ { "id": "CROCC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TZA2", "type": "external" } ], "mass": 228424.0, "length": 2017, "protein_name": "Rootletin", "gene_name": "CROCC", "organism": "Human", "refseq_name": "rootletin", "refseq_ac": [ { "id": "NP_055490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055490", "type": "external" } ], "gene_names_uniprotkb": "CROCC; KIAA0445", "gene_names_refseq": "CROCC1; CROCC; ROLT; TAX1BP2", "protein_names_uniprotkb": "Rootletin; Ciliary rootlet coiled-coil protein", "protein_names_refseq": "Tax1-binding protein 2; ciliary rootlet coiled-coil protein; rootletin, ciliary rootlet protein; rootletin", "tax_id": 9606, "disease": "", "pathway": " (hsa:9696)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;12800201;14654843;16203858;16767081;21406692;22610972;24275569;25645385;26853435;27600516;27623382;28832583;28834231;29242379;29393594;29632711;29649211;29786170;29961568;30315122;30379171;30524438;31154438;31530632;31799620;31848261;32325071;33214551;36215666;36284347;37217939;39894887", "class_list": "", "function": "Identification of a Structurally Dynamic Domain for Oligomer Formation in Rootletin., [RefSeq, PubMed]; Major structural component of the ciliary rootlet, a cytoskeletal-like structure in ciliated cells which originates from the basal body at the proximal end of a cilium and extends proximally toward the cell nucleus (By similarity). Furthermore, is required for the correct positioning of the cilium basal body relative to the cell nucleus, to allow for ciliogenesis (PubMed:27623382). Contributes to centrosome cohesion before mitosis (PubMed:16203858)., [UniProtKB, UniProtKB, PubMed, PubMed]; Our findings suggest that the HTLV-I Tax oncoprotein targets TAX1BP2 causing genomic instability and aneuploidy., [RefSeq, PubMed]; Rootletin forms large, diffusionally stable bifurcating fibers, which amass slowly on mature centrioles over many hours from anaphase. Nascent centrioles (procentrioles), in contrast, do not form roots and must be licensed to do so through PLK1 activity. Publication Status: Online-Only, [RefSeq, PubMed]; Up-regulated microRNA-33b inhibits epithelial-mesenchymal transition in gallbladder cancer through down-regulating CROCC., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2VHY3;Q66GT7;Q7Z2L4;Q7Z5D7", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0005198 structural molecule activity;GO:0019894 kinesin binding", "go_cellular_component": "GO:0005813 centrosome;GO:0035253 ciliary rootlet;GO:0070062 extracellular exosome;GO:0001917 photoreceptor inner segment;GO:0005814 centriole", "go_biological_process": "GO:0008104 intracellular protein localization;GO:0030030 cell projection organization;GO:0007098 centrosome cycle;GO:1903566 positive regulation of protein localization to cilium;GO:0010457 centriole-centriole cohesion", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q5TZA2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z408-1", "uniprot_id": [ { "id": "CSMD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z408", "type": "external" } ], "mass": 380039.0, "length": 3487, "protein_name": "CUB and sushi domain-containing protein 2", "gene_name": "CSMD2", "organism": "Human", "refseq_name": "CUB and sushi domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001268885", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268885", "type": "external" } ], "gene_names_uniprotkb": "CSMD2; KIAA1884", "gene_names_refseq": "CSMD2; dJ1007G16.1; dJ1007G16.2; dJ947L8.1", "protein_names_uniprotkb": "CUB and sushi domain-containing protein 2; CUB and sushi multiple domains protein 2", "protein_names_refseq": "CUB and Sushi (SCR repeat) domain; CUB and sushi domain-containing protein 2 isoform 1; CUB and sushi domain-containing protein 2; CUB and sushi multiple domains protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:114784)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;12906867;21439553;24408017;25576301;25892735;27846572;29557506;30524438;32387766;32488085;32983136;33141586;33592498;34087483;35051231;35251023;35580925;36215666", "class_list": "", "function": "CSMD1 and CSMD2 expressions were associated with overall survival, [RefSeq, PubMed]; CSMD2 protein domain structure and the sequence of the cytoplasmic tail are highly conserved between mammals and fish., [RefSeq, PubMed]; Data demonstrate a significant role of complement control-related genes in the etiology of schizophrenia., [RefSeq, PubMed]; The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Jan 2020]., [RefSeq]", "predicted_glycosites": 36, "predicted_n_glycosites": 35, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 198, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 36, "binding_glycan_count": 0, "secondary_ac_list": "B1AM50;E7EUA6;Q53TY4;Q5VT59;Q8N963;Q96Q03;Q9H4V7;Q9H4V8;Q9H4V9;Q9H4W0;Q9H4W1;Q9H4W2;Q9H4W3;Q9H4W4;Q9HCY5;Q9HCY6;Q9HCY7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098839 postsynaptic density membrane;GO:0016020 membrane", "go_biological_process": "GO:0097107 postsynaptic density assembly;GO:0099562 maintenance of postsynaptic density structure", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q7Z408-1", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86X51-1", "uniprot_id": [ { "id": "EZHIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86X51", "type": "external" } ], "mass": 51894.0, "length": 503, "protein_name": "EZH inhibitory protein", "gene_name": "EZHIP", "organism": "Human", "refseq_name": "EZH inhibitory protein", "refseq_ac": [ { "id": "NP_981952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_981952", "type": "external" } ], "gene_names_uniprotkb": "EZHIP; CXorf67", "gene_names_refseq": "CATACOMB; CXorf67; EZHIP; KIP75", "protein_names_uniprotkb": "EZH inhibitory protein", "protein_names_refseq": "EZH inhibitory protein; K27M-like inhibitor of PRC2; catalytic antagonist of Polycomb; uncharacterized protein CXorf67", "tax_id": 9606, "disease": "", "pathway": " (hsa:340602); (R-HSA-212300)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "12351676;12435631;15099518;16357870;16431907;18974356;19026781;19571010;20058876;20075857;20123894;20564319;20937877;20974918;21170310;22323599;22466170;23186163;23326524;23431328;23679895;23959973;24074865;29909548;30379171;30923826;31086175;31451685;33130928;33153494;33186520;34725712;35511635", "class_list": "", "function": "EZH2 inhibitory protein (EZHIP/Cxorf67) expression correlates strongly with H3K27me3 loss in posterior fossa ependymomas and is mutually exclusive with H3K27M mutations. Erratum:[Brain Tumor Pathol. 2021 Jan 9;:. PMID: 33420598], [RefSeq, PubMed]; EZHIP is a specific diagnostic biomarker for posterior fossa ependymomas, group PFA and diffuse midline gliomas H3-WT with EZHIP overexpression. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated CXorf67 Expression in PFA Ependymomas Suppresses DNA Repair and Sensitizes to PARP Inhibitors., [RefSeq, PubMed]; Inhibits PRC2/EED-EZH1 and PRC2/EED-EZH2 complex function by inhibiting EZH1/EZH2 methyltransferase activity, thereby causing down-regulation of histone H3 trimethylation on 'Lys-27' (H3K27me3) (PubMed:29909548, PubMed:30923826, PubMed:31086175, PubMed:31451685). Probably inhibits methyltransferase activity by limiting the stimulatory effect of cofactors such as AEBP2 and JARID2 (PubMed:30923826). Inhibits H3K27me3 deposition during spermatogenesis and oogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The chimeric MBTD1-CXorf67 fusion identifies yet another cytogenetically distinct subgroup of low-grade Endometrial stromal sarcomas and offers the opportunity to shed light on the functions of two poorly characterized genes., [RefSeq, PubMed]; The data of this study suggested that heterogeneity among PFA ependymomas could have clinicopathologic utility and that CXorf67 may have a functional role in these tumors., [RefSeq, PubMed]; [The value of CXorf67 and H3K27me3 for diagnosing germ cell tumors in central nervous system]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0180000 histone methyltransferase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006325 chromatin organization;GO:0040029 epigenetic regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q86X51-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XM0-1", "uniprot_id": [ { "id": "CTSRD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XM0", "type": "external" } ], "mass": 90468.0, "length": 798, "protein_name": "Cation channel sperm-associated auxiliary subunit delta", "gene_name": "CATSPERD", "organism": "Human", "refseq_name": "cation channel sperm-associated auxiliary subunit delta precursor", "refseq_ac": [ { "id": "NP_689997", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689997", "type": "external" } ], "gene_names_uniprotkb": "CATSPERD; TMEM146", "gene_names_refseq": "CATSPERD; TMEM146", "protein_names_uniprotkb": "Cation channel sperm-associated auxiliary subunit delta; CatSper-delta; CatSperdelta; Transmembrane protein 146", "protein_names_refseq": "catSper-delta; catSperdelta; cation channel sperm associated auxiliary subunit delta; cation channel sperm-associated auxiliary subunit delta precursor; cation channel sperm-associated protein subunit delta; transmembrane protein 146", "tax_id": 9606, "disease": "", "pathway": " (hsa:257062); (R-HSA-1300642)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "11595941;17227845;17460039;20144758;20648059;21412338;21412339;23530196;25892735;26992070;29557506;29789417;35051231;9452476", "class_list": "", "function": "Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane., [UniProtKB, UniProtKB]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZRP1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036128 CatSper complex;GO:0005886 plasma membrane;GO:0097228 sperm principal piece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q86XM0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEV1-1", "uniprot_id": [ { "id": "CSK23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEV1", "type": "external" } ], "mass": 45220.0, "length": 391, "protein_name": "Casein kinase II subunit alpha 3", "gene_name": "CSNK2A3", "organism": "Human", "refseq_name": "casein kinase II subunit alpha 3", "refseq_ac": [ { "id": "NP_001243615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243615", "type": "external" } ], "gene_names_uniprotkb": "CSNK2A3; CSNK2A1P", "gene_names_refseq": "CSNK2A1P; CSNK2A3", "protein_names_uniprotkb": "Casein kinase II subunit alpha 3; 2.7.11.1; CK II alpha 3; Casein kinase II alpha 1 polypeptide pseudogene", "protein_names_refseq": "CK II alpha 3; casein kinase 2, alpha 1 polypeptide pseudogene; casein kinase 2, alpha 3 polypeptide; casein kinase II alpha 1 polypeptide pseudogene; casein kinase II subunit alpha 3", "tax_id": 9606, "disease": "Keshan disease (Disease Ontology:DOID:0050083); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); hypospadias (Disease Ontology:DOID:10892); urinary bladder cancer (Disease Ontology:DOID:11054); heart disease (Disease Ontology:DOID:114); polycystic ovary syndrome (Disease Ontology:DOID:11612); clubfoot (Disease Ontology:DOID:11836); head and neck cancer (Disease Ontology:DOID:11934); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); Graves' disease (Disease Ontology:DOID:12361); Sjogren's syndrome (Disease Ontology:DOID:12894); dilated cardiomyopathy (Disease Ontology:DOID:12930); lung cancer (Disease Ontology:DOID:1324); Behcet's disease (Disease Ontology:DOID:13241); endometrial cancer (Disease Ontology:DOID:1380); Parkinson's disease (Disease Ontology:DOID:14330); cystic fibrosis (Disease Ontology:DOID:1485); breast cancer (Disease Ontology:DOID:1612); endometriosis (Disease Ontology:DOID:289); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gallbladder cancer (Disease Ontology:DOID:3121); porphyria cutanea tarda (Disease Ontology:DOID:3132); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); renal cell carcinoma (Disease Ontology:DOID:4450); biliary tract cancer (Disease Ontology:DOID:4607); esophageal cancer (Disease Ontology:DOID:5041); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); bronchitis (Disease Ontology:DOID:6132); reactive arthritis (Disease Ontology:DOID:6196); pulmonary hypertension (Disease Ontology:DOID:6432); ankylosing spondylitis (Disease Ontology:DOID:7147); end stage renal disease (Disease Ontology:DOID:783); periodontitis (Disease Ontology:DOID:824); chronic myeloid leukemia (Disease Ontology:DOID:8552); oral cavity cancer (Disease Ontology:DOID:8618); psoriasis (Disease Ontology:DOID:8893); psoriatic arthritis (Disease Ontology:DOID:9008); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:283106); (R-HSA-9768727)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "12102635;1610905;17261850;18491227;20625391;22375065;24681004;24966173;26416966;26992070;27255086;28512129;28904123;29437277;29557506;31637018;31844290;32157095;32387766;32897882;32938616;32983136;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34509645;34932366;35051231;35318648;35580925;36010968;36241641;7982500;8420794", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Probable catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Amplification-dependent oncogene; promotes cell proliferation and tumorigenesis by down-regulating expression of the tumor suppressor protein, PML. May play a role in the pathogenesis of the lung cancer development and progression., [UniProtKB, PubMed]; This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 47, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005956 protein kinase CK2 complex", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0008284 positive regulation of cell population proliferation;GO:0030307 positive regulation of cell growth;GO:0006302 double-strand break repair;GO:0045732 positive regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8NEV1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TB33-1", "uniprot_id": [ { "id": "CX024_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TB33", "type": "external" } ], "mass": 10359.0, "length": 94, "protein_name": "Putative uncharacterized protein encoded by LINC01560", "gene_name": "LINC01560", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01560; CXorf24", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01560", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5H9B1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8TB33-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBR5-1", "uniprot_id": [ { "id": "CSAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBR5", "type": "external" } ], "mass": 12399.0, "length": 109, "protein_name": "Putative uncharacterized protein CIRBP-AS1", "gene_name": "CIRBP-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CIRBP-AS1; C19orf23", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein CIRBP-AS1; CIRBP antisense RNA 1; CIRBP antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8TBR5-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXD9-1", "uniprot_id": [ { "id": "CSKI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXD9", "type": "external" } ], "mass": 149814.0, "length": 1431, "protein_name": "Caskin-1", "gene_name": "CASKIN1", "organism": "Human", "refseq_name": "caskin-1", "refseq_ac": [ { "id": "NP_065815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065815", "type": "external" } ], "gene_names_uniprotkb": "CASKIN1; KIAA1306", "gene_names_refseq": "ANKS5A; CASKIN1", "protein_names_uniprotkb": "Caskin-1; CASK-interacting protein 1", "protein_names_refseq": "caskin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57524)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "12040031;18691976;19413330;21763699;22153505;23181695;23186163;24129315;28104445;28411811;28657654;28832583;29351928;29557506;30779550;32157095;32488085;33467043;33968037;35051231;36672919", "class_list": "", "function": "A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family. Publication Status: Online-Only, [RefSeq, PubMed]; May link the scaffolding protein CASK to downstream intracellular effectors., [UniProtKB]; SAM domains of Caskin1 form a new type of SAM helical polymer., [RefSeq, PubMed]; Solution NMR Structure of the SH3 Domain of Human Caskin1 Validates the Lack of a Typical Peptide Binding Groove and Supports a Role in Lipid Mediator Binding. Publication Status: Online-Only, [RefSeq, PubMed]; Study shows that a short linear EEIWVLRK peptide motif from Caskin1 is necessary and sufficient for binding CASK., [RefSeq, PubMed]; The SH3 domain of human Caskin1 is a lipid-binding domain rather than a proline-rich motif interacting domain., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q9P2P0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0098794 postsynapse", "go_biological_process": "GO:0007165 signal transduction;GO:0099151 regulation of postsynaptic density assembly", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8WXD9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WY07-1", "uniprot_id": [ { "id": "CTR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WY07", "type": "external" } ], "mass": 67169.0, "length": 619, "protein_name": "Cationic amino acid transporter 3", "gene_name": "SLC7A3", "organism": "Human", "refseq_name": "cationic amino acid transporter 3", "refseq_ac": [ { "id": "NP_001041629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041629", "type": "external" } ], "gene_names_uniprotkb": "SLC7A3; ATRC3; CAT3", "gene_names_refseq": "ATRC3; CAT-3; CAT3; SLC7A3", "protein_names_uniprotkb": "Cationic amino acid transporter 3; CAT-3; CAT3; Cationic amino acid transporter y+; Solute carrier family 7 member 3", "protein_names_refseq": "cationic amino acid transporter 3; solute carrier family 7 (cationic amino acid transporter, y+ system), member 3", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Disease Ontology:DOID:0111666); lipid storage disease (Disease Ontology:DOID:9455)", "pathway": " (hsa:84889); (R-HSA-352230)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11243884;11278508;11318953;11342143;11417227;11591158;11827462;12202949;12527723;12809675;12930836;15151999;15659399;15737334;15918515;16332251;18195088;21097500;21248752;21406692;22870827;24652292;25130427;26215737;28218747;29393594;29557506;31092671;31154438;31848261;32387766;32502341;33091337;33936100;35051231;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9878049", "class_list": "", "function": "CAT1, CAT2, and CAT3 localized in adult brains but with uneven distribution., [RefSeq, PubMed]; Is concluded that hCAT-3 is a passive transport system that conducts monovalent cations including L-Arg., [RefSeq, PubMed]; It is concluded that similar to hCAT-1, hCAT-3 activity is decreased by PKC via reduction of transporter molecules in the plasma membrane., [RefSeq, PubMed]; Knockdown impaired AMPK-PPAR-alpha signaling and resulted in lipid accumulation under glucose starvation in liver cells, [RefSeq, PubMed]; Rare hypomorphic variants of SLC7A3 exist in male individuals, SLC7A3 variants possibly contribute to the etiology of autism spectrum disorders in male subjects in association with other genetic factors, [RefSeq, PubMed]; This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010]., [RefSeq]; Uniporter that mediates the uptake of cationic L-amino acids such as L-arginine, L-lysine and L-ornithine (PubMed:11591158). The transport is sodium ions- and pH-independent, moderately trans-stimulated and is mediated by passive diffusion (PubMed:11591158)., [UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DVU7;Q5JQR2;Q8N185;Q8NCA7;Q96SZ7", "ec_number_list": [], "go_molecular_function": "GO:0000064 L-ornithine transmembrane transporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0015189 L-lysine transmembrane transporter activity;GO:0061459 L-arginine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006865 amino acid transport;GO:0097638 L-arginine import across plasma membrane;GO:0097639 L-lysine import across plasma membrane;GO:0097640 L-ornithine import across plasma membrane;GO:0150104 transport across blood-brain barrier", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q8WY07-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DE9-1", "uniprot_id": [ { "id": "EOLA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DE9", "type": "external" } ], "mass": 17780.0, "length": 158, "protein_name": "Protein EOLA2", "gene_name": "EOLA2", "organism": "Human", "refseq_name": "protein EOLA2 isoform 1", "refseq_ac": [ { "id": "NP_001013867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013867", "type": "external" } ], "gene_names_uniprotkb": "EOLA2; CXorf40B", "gene_names_refseq": "CXorf40B; EOLA2", "protein_names_uniprotkb": "Protein EOLA2; Protein CXorf40B", "protein_names_refseq": "protein CXorf40B; protein EOLA2 isoform 1; protein EOLA2", "tax_id": 9606, "disease": "", "pathway": " (hsa:541578)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;28218747;28832583;28904123;29242379;29437277;8717057", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96DE9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KN9-1", "uniprot_id": [ { "id": "CXD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KN9", "type": "external" } ], "mass": 40140.0, "length": 370, "protein_name": "Gap junction delta-4 protein", "gene_name": "GJD4", "organism": "Human", "refseq_name": "gap junction delta-4 protein", "refseq_ac": [ { "id": "NP_699199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699199", "type": "external" } ], "gene_names_uniprotkb": "GJD4; CX40.1", "gene_names_refseq": "CX40.1; GJD4", "protein_names_uniprotkb": "Gap junction delta-4 protein; Connexin-40.1; Cx40.1", "protein_names_refseq": "connexin-40.1; connexin40.1; gap junction delta-4 protein; gap junction protein, delta 4, 40.1kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:219770); (R-HSA-190861)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "10191254;12108537;12881038;15536180;16303743;16959974;17200141;1850831;22729648;24096827;27229680;29557506;7929580", "class_list": "", "function": "Connexin40 regulates platelet function., [RefSeq, PubMed]; Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]., [RefSeq]; Expression patterns differ from mouse orthologs [Cx30.2; Cx40.1], [RefSeq, PubMed]; Human deltoid muscle biopsies of 5 Chilean dysferlinopathy patients exhibited the presence of muscular connexins (Cx40.1, Cx43 and Cx45). Publication Status: Online-Only, [RefSeq, PubMed]; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell., [UniProtKB]; The data show that induced expression of either Cx37 or Cx40 in Cx43-expressing cells can selectively alter the intercellular exchange of some molecules without affecting the transfer of others., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N2R7", "ec_number_list": [], "go_molecular_function": "GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96KN9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR46-1", "uniprot_id": [ { "id": "SCAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR46", "type": "external" } ], "mass": 17183.0, "length": 151, "protein_name": "Putative uncharacterized protein SCP2D1-AS1", "gene_name": "SCP2D1-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SCP2D1-AS1; C20orf78", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein SCP2D1-AS1; SCP2D1 antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9BR46-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUV8-1", "uniprot_id": [ { "id": "RCAF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUV8", "type": "external" } ], "mass": 15487.0, "length": 137, "protein_name": "GEL complex subunit OPTI", "gene_name": "RAB5IF", "organism": "Human", "refseq_name": "GEL complex subunit OPTI isoform c", "refseq_ac": [ { "id": "NP_001186463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186463", "type": "external" } ], "gene_names_uniprotkb": "RAB5IF; C20orf24; OPTI; PNAS-11; RCAF1", "gene_names_refseq": "C20orf24; CFSMR2; OPTI; PNAS-11; RAB5IF; RCAF1; RIP5", "protein_names_uniprotkb": "GEL complex subunit OPTI; Obligate partner of TMCO1 insertase; RIP5; Rab5-interacting protein; Respirasome Complex Assembly Factor 1", "protein_names_refseq": "GEL complex subunit OPTI isoform c; GEL complex subunit OPTI; obligate partner of TMCO1 insertase; rab5-interacting protein; respirasome complex assembly factor 1; uncharacterized protein C20orf24", "tax_id": 9606, "disease": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 (Disease Ontology:DOID:0081125)", "pathway": " (hsa:55969); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "14759258;19503089;20877624;22342701;23125284;23260140;23345593;23746447;24366607;24403053;25576301;25926683;25959673;26154972;26321642;27600516;27693358;27920218;28082314;28199844;28330871;28514659;28904123;29154948;29331515;29557506;29769354;29789417;30379171;30484775;31154438;31530632;31536960;31717443;31844290;32157095;32161166;32317297;32375044;32387766;32488085;32502341;32938616;33141586;33592498;33691108;33936100;33968037;34171305;34969438;35580925;35614220;35750769;36150687;36241641;36261522;40596516;8824393;9843204", "class_list": "", "function": "Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Within the MPT complex, the GEL subcomplex may mediate insertion of transmembrane regions into the membrane (PubMed:36261522). In addition to its role in multi-pass membrane insertion, RAB5IF/OPTI also acts as an assembly factor for mitochondrial respiratory complexes (PubMed:31536960)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The Pivotal Role of Long Noncoding RNA RAB5IF in the Proliferation of Hepatocellular Carcinoma Via LGR5 Mediated beta-Catenin and c-Myc Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This protein seems to play a role in mitochondrial respirasome assembly and function and we propose to rename it as RCAF1 (Respirasome Complex Assembly Factor 1)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E1P5U0;O00605;Q5QPG6;Q5QPG7;Q9BT03;Q9BZU7;Q9UI05", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005789 endoplasmic reticulum membrane;GO:0160064 multi-pass translocon complex", "go_biological_process": "GO:0097250 mitochondrial respirasome assembly;GO:0160063 multi-pass transmembrane protein insertion into ER membrane", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9BUV8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H336-1", "uniprot_id": [ { "id": "CRLD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H336", "type": "external" } ], "mass": 56888.0, "length": 500, "protein_name": "Cysteine-rich secretory protein LCCL domain-containing 1", "gene_name": "CRISPLD1", "organism": "Human", "refseq_name": "cysteine-rich secretory protein LCCL domain-containing 1 isoform 2", "refseq_ac": [ { "id": "NP_001273706", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273706", "type": "external" } ], "gene_names_uniprotkb": "CRISPLD1; CRISP10; LCRISP1; PRO541", "gene_names_refseq": "CAPLD1; CRISP-10; CRISP10; CRISPLD1; LCRISP1", "protein_names_uniprotkb": "Cysteine-rich secretory protein LCCL domain-containing 1; CRISP-10; CocoaCrisp; Cysteine-rich secretory protein 10; LCCL domain-containing cysteine-rich secretory protein 1; Trypsin inhibitor Hl", "protein_names_refseq": "CocoaCrisp; LCCL domain-containing cysteine-rich secretory protein 1; cysteine-rich secretory protein 10; cysteine-rich secretory protein LCCL domain-containing 1 isoform 2; trypsin inhibitor Hl", "tax_id": 9606, "disease": "", "pathway": " (hsa:83690)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;21254358;29242379;29275860;31844290;32146539;32387766;33592498;33968037;34509645;36010968", "class_list": "", "function": "CRISPLD1: a novel conserved target in the transition to human heart failure; findings provide new pathophysiological data on Ca(2+) regulation in the transition to failure and novel candidate genes with promising potential for therapeutic interventions Publication Status: Online-Only, [RefSeq, PubMed]; These novel findings suggest that CRISPLD1 plays a role in Nonsyndromic cleft lip and palate (NSCLP) through the interaction with CRISPLD2 and folate pathway genes., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RA60;B7Z929", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0060325 face morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9H336-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3Y0-1", "uniprot_id": [ { "id": "CRSPL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3Y0", "type": "external" } ], "mass": 28605.0, "length": 253, "protein_name": "Peptidase inhibitor R3HDML", "gene_name": "R3HDML", "organism": "Human", "refseq_name": "peptidase inhibitor R3HDML precursor", "refseq_ac": [ { "id": "NP_848586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848586", "type": "external" } ], "gene_names_uniprotkb": "R3HDML", "gene_names_refseq": "R3HDML; dJ881L22.3", "protein_names_uniprotkb": "Peptidase inhibitor R3HDML; Cysteine-rich secretory protein R3HDML", "protein_names_refseq": "cysteine-rich secretory protein R3HDML; peptidase inhibitor R3HDML precursor; peptidase inhibitor R3HDML", "tax_id": 9606, "disease": "", "pathway": " (hsa:140902)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Putative serine protease inhibitor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0030414 peptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9H3Y0-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H467-1", "uniprot_id": [ { "id": "CUED2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H467", "type": "external" } ], "mass": 32009.0, "length": 287, "protein_name": "CUE domain-containing protein 2", "gene_name": "CUEDC2", "organism": "Human", "refseq_name": "CUE domain-containing protein 2", "refseq_ac": [ { "id": "NP_076945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076945", "type": "external" } ], "gene_names_uniprotkb": "CUEDC2; C10orf66; HOYS6", "gene_names_refseq": "C10orf66; CUEDC2; bA18I14.5", "protein_names_uniprotkb": "CUE domain-containing protein 2", "protein_names_refseq": "CUE domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79004)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "10.1038/emboj.2013.79;16385451;17347654;20068231;21572428;21743465;23481700;23584533;24714562;24715725;25418920;25505266;25576301;26154972;26728094;26992070;27846572;27920218;28228285;28467828;28832583;28834231;28904123;29242379;29493099;29557506;29786170;29789417;30315122;30429286;30779550;30833945;31154438;31844290;31848261;32157095;32265295;32350084;32357974;32897882;32938616;32960074;32967504;32978519;33537174;33968037;33981976;34171305;34185709;34257080;34932366;35051231;35251023;35318648;35580925;35732909;36010968;36215666;36241641;37938771", "class_list": "", "function": "Comparison of ADAM19 and CUEDC2 expression in EHCC and their clinicopathological significance., [RefSeq, PubMed]; Down-regulates ESR1 protein levels through the ubiquitination-proteasome pathway, regardless of the presence of 17 beta-estradiol. Also involved in 17 beta-estradiol-induced ESR1 degradation. Controls PGR protein levels through a similar mechanism., [UniProtKB, PubMed, PubMed]; Expression of CUE domain containing 2 protein in serous ovarian cancer tissue: predicting disease-free and overall survival of patients., [RefSeq, PubMed]; Key factor in endocrine resistance in breast cancer, [RefSeq, PubMed]; LncRNA BCYRN1 inhibits glioma tumorigenesis by competitively binding with miR-619-5p to regulate CUEDC2 expression and the PTEN/AKT/p21 pathway. Erratum:[Oncogene. 2021 Oct;40(40):5972-5973. doi: 10.1038/s41388-021-01990-4. PMID: 34400767], [RefSeq, PubMed]; MicroRNA-324-5p-CUEDC2 Axis Mediates Gain-of-Function Mutant p53-Driven Cancer Stemness., [RefSeq, PubMed]; Molecular crosstalk between CUEDC2 and ERalpha influences the clinical outcome by regulating mitosis in breast cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These results identify a key post-translational mechanism that controls progesterone receptor protein levels and for the first time provide an important insight into the function of CUEDC2 in breast cancer proliferation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DR88;Q9BWG8", "ec_number_list": [], "go_molecular_function": "GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane", "go_biological_process": "GO:1900016 negative regulation of cytokine production involved in inflammatory response;GO:0010936 negative regulation of macrophage cytokine production", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9H467-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4R4-1", "uniprot_id": [ { "id": "CT191_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4R4", "type": "external" } ], "mass": 11336.0, "length": 102, "protein_name": "Putative nuclear receptor corepressor 1-like protein NCOR1P1", "gene_name": "NCOR1P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "NCOR1P1; C20orf191", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative nuclear receptor corepressor 1-like protein NCOR1P1; Nuclear receptor corepressor 1 pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "28411811;31844290", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RUA0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9H4R4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5V9-1", "uniprot_id": [ { "id": "STEEP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5V9", "type": "external" } ], "mass": 25625.0, "length": 222, "protein_name": "STING ER exit protein", "gene_name": "STEEP1", "organism": "Human", "refseq_name": "STING ER exit protein isoform 2", "refseq_ac": [ { "id": "NP_001164040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164040", "type": "external" } ], "gene_names_uniprotkb": "STEEP1; CXorf56", "gene_names_refseq": "CXorf56; MRX107; STEEP1; STEEP; XLID107", "protein_names_uniprotkb": "STING ER exit protein; STEEP", "protein_names_refseq": "STING ER exit protein isoform 2; STING ER exit protein; UPF0428 protein CXorf56", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 107 (Disease Ontology:DOID:0112054)", "pathway": " (hsa:63932); (R-HSA-72163)", "pathway_count": 2, "publication_count": 136, "publication_id_list": "10882114;11014198;11101529;11233976;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23222130;23236153;23345524;23481700;24196718;24304693;24397554;24448447;24714562;24715725;24737827;24914973;25555158;25576301;2558966;25645385;25880248;26154972;26385511;26420826;26728094;26811146;26969736;26992070;27377154;27459055;27600516;27683217;27846572;27862975;28062851;28063628;28076346;28502770;28781166;28832583;28834231;28904123;29242379;29301961;29331515;29360106;29361316;29374277;29393594;29493099;29508533;29557506;29632711;2963332;30315277;30429286;30705154;30728453;30765414;30833945;30975767;31154438;31217245;31409651;31822863;31844290;31848261;31998317;32157095;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32690950;32938616;32983136;33141586;33214551;33243851;33298915;33392160;33446560;33592498;33673493;33912179;33968037;34087483;34301950;34822310;35051231;35385551;35561310;35580925;36241641;36284347;3757028;37832545;37938771;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Molecular adapter that stimulates membrane curvature formation and subsequent endoplasmic reticulum exit site (ERES) establishment by recruiting PI3K complex I, leading to COPII vesicle-mediated transport (PubMed:32690950). Promotes endoplasmic reticulum (ER) exit of cGAMP-activated STING1 oligomers (PubMed:32690950, PubMed:37832545)., [UniProtKB, PubMed, PubMed]; Novel clinical and genetic insight into CXorf56-associated intellectual disability., [RefSeq, PubMed]; Pathogenic CXorf56 variant was identified in the family with X-linked intellectual disability., [RefSeq, PubMed]; STEEP mediates STING ER exit and activation of signaling. Erratum:[Nat Immunol. 2020 Nov;21(11):1468-1469. doi: 10.1038/s41590-020-0803-5. PMID: 32929276], [RefSeq, PubMed]; The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes. Publication Status: Online-Only, [RefSeq, PubMed]; While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MPX7;B4DQN2;D3DWH9;F5GWL7;O43351", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0090158 endoplasmic reticulum membrane organization;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0032527 protein exit from endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "Q9H5V9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUB4-1", "uniprot_id": [ { "id": "CT141_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUB4", "type": "external" } ], "mass": 17394.0, "length": 165, "protein_name": "Uncharacterized protein C20orf141", "gene_name": "C20orf141", "organism": "Human", "refseq_name": "uncharacterized protein C20orf141", "refseq_ac": [ { "id": "NP_001243467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243467", "type": "external" } ], "gene_names_uniprotkb": "C20orf141", "gene_names_refseq": "C20orf141; dJ860F19.4", "protein_names_uniprotkb": "Uncharacterized protein C20orf141", "protein_names_refseq": "uncharacterized protein C20orf141", "tax_id": 9606, "disease": "", "pathway": " (hsa:128653)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "30115740", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9NUB4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVV2-1", "uniprot_id": [ { "id": "CS073_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVV2", "type": "external" } ], "mass": 13750.0, "length": 129, "protein_name": "Putative uncharacterized protein C19orf73", "gene_name": "C19orf73", "organism": "Human", "refseq_name": "putative uncharacterized protein C19orf73", "refseq_ac": [ { "id": "NP_060581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060581", "type": "external" } ], "gene_names_uniprotkb": "C19orf73", "gene_names_refseq": "C19orf73", "protein_names_uniprotkb": "Putative uncharacterized protein C19orf73", "protein_names_refseq": "putative uncharacterized protein C19orf73", "tax_id": 9606, "disease": "", "pathway": " (hsa:55150)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "24715725;37217939", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6NSX4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9NVV2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBG3-1", "uniprot_id": [ { "id": "CRNN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBG3", "type": "external" } ], "mass": 53533.0, "length": 495, "protein_name": "Cornulin", "gene_name": "CRNN", "organism": "Human", "refseq_name": "cornulin", "refseq_ac": [ { "id": "NP_057274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057274", "type": "external" } ], "gene_names_uniprotkb": "CRNN; C1orf10; DRC1; PDRC1; SEP53", "gene_names_refseq": "C1orf10; CRNN; PDRC1; SEP53", "protein_names_uniprotkb": "Cornulin; 53 kDa putative calcium-binding protein; 53 kDa squamous epithelial-induced stress protein; 58 kDa heat shock protein; Squamous epithelial heat shock protein 53; Tumor-related protein", "protein_names_refseq": "53 kDa putative calcium-binding protein; 53 kDa squamous epithelial-induced stress protein; 58 kDa heat shock protein; cornulin; squamous epithelial heat shock protein 53; tumor-related protein", "tax_id": 9606, "disease": "esophageal cancer (Disease Ontology:DOID:5041)", "pathway": " (hsa:49860)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11056050;11606197;15854041;15896671;16466100;16640557;17287340;17289885;19558548;24715725;25846277;28219068;30009832;31844290;38538265", "class_list": "", "function": "Identification of Down-Expressed CRNN Associated with Cancer Progression and Poor Prognosis in Laryngeal Squamous Cell Carcinoma., [RefSeq, PubMed]; Knockdown of CRNN by small interfering RNA suppressed G1/S transition and attenuated the M5-induced proliferation. In addition, CRNN overexpression increased the phosphorylation and activation of phosphoinositide 3-kinase and Akt. Inactivation of the phosphoinositide 3-kinase and Akt pathways using small interfering RNA or selective inhibitors (LY294002 and MK2206) reduced the proliferative effects of CRNN, [RefSeq, PubMed]; Promotes cell proliferation, G1/S cell cycle progression and induces expression of the cell cycle regulator CCND1 (PubMed:30009832). Regulates proliferation induced by pro-inflammatory cytokine response via activation of NFKB1 and PI3K/AKT signaling pathways (PubMed:30009832)., [UniProtKB, PubMed]; The single-nucleotide polymorphisms of CRNN (rs941934) and RPTN (rs3001978, rs28441202) may contribute to Atopic Dermatitis development, but further studies on a larger group of Atopic Dermatitis patients are needed to verify this assumption., [RefSeq, PubMed]; This gene encodes a member of the 'fused gene' family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009]., [RefSeq]; This study showed a significant correlation between LOH/MSI at 1q21.3 with clinical outcomes and that downregulation of CRNN gene could be considered as a prognostic marker of OSCC., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RE60;Q8N613", "ec_number_list": [], "go_molecular_function": "GO:0046914 transition metal ion binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0032980 keratinocyte activation;GO:0098609 cell-cell adhesion;GO:0009408 response to heat", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9UBG3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKL4-1", "uniprot_id": [ { "id": "CXD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKL4", "type": "external" } ], "mass": 36093.0, "length": 321, "protein_name": "Gap junction delta-2 protein", "gene_name": "GJD2", "organism": "Human", "refseq_name": "gap junction delta-2 protein", "refseq_ac": [ { "id": "NP_065711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065711", "type": "external" } ], "gene_names_uniprotkb": "GJD2; GJA9", "gene_names_refseq": "CX36; GJA9; GJD2", "protein_names_uniprotkb": "Gap junction delta-2 protein; Connexin-36; Cx36; Gap junction alpha-9 protein", "protein_names_refseq": "connexin-36; gap junction alpha-9 protein; gap junction delta-2 protein; gap junction protein, delta 2, 36kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:57369); (R-HSA-112303); (R-HSA-190861)", "pathway_count": 3, "publication_count": 20, "publication_id_list": "10191254;10462698;12522556;12881038;14565956;14597722;15014171;15083701;15116387;15536180;16956882;17200141;1850831;20930146;24454290;35885949;36906653;37578890;38490311;7929580", "class_list": "", "function": "35delG mutation of the GJB2 gne is a risk for deafness, [RefSeq, PubMed]; Assembly mechanisms of the neuronal gap junction channel connexin 36 elucidated by Cryo-EM., [RefSeq, PubMed]; Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors. Publication Status: Online-Only, [RefSeq, PubMed]; Connexin 36 expression is regulated by the transcriptional repressor NRSF/REST, [RefSeq, PubMed]; Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family, [RefSeq, PubMed]; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell., [UniProtKB]; Restoring connexin-36 function in diabetogenic environments precludes mouse and human islet dysfunction., [RefSeq, PubMed]; Results of reporter gene analysis of Cx36 expression in transgenic mice suggest that Cx36 has functional roles not only in several types of neurons in the retina and central nervous system but also in excitable cells of the pancreas and adrenal gland., [RefSeq, PubMed]; This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2M241;Q9P2R0", "ec_number_list": [], "go_molecular_function": "GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9UKL4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6H8-1", "uniprot_id": [ { "id": "CXA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6H8", "type": "external" } ], "mass": 47410.0, "length": 435, "protein_name": "Gap junction alpha-3 protein", "gene_name": "GJA3", "organism": "Human", "refseq_name": "gap junction alpha-3 protein", "refseq_ac": [ { "id": "NP_068773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068773", "type": "external" } ], "gene_names_uniprotkb": "GJA3", "gene_names_refseq": "CTRCT14; CX46; CZP3; GJA3", "protein_names_uniprotkb": "Gap junction alpha-3 protein; Connexin-46; Cx46", "protein_names_refseq": "connexin-46; gap junction alpha 3; gap junction alpha-3 protein; gap junction protein, alpha 3, 46kDa", "tax_id": 9606, "disease": "cataract 14 multiple types (Disease Ontology:DOID:0110253); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:2700); (R-HSA-190861)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10191254;10205266;10746562;14627959;15208569;15286166;15448617;15536180;16234473;16254549;16885921;16971895;17200141;17615540;17893674;1850831;19182255;20431721;21552498;21647269;21681855;21866213;21897748;22312188;23481700;24772942;25635993;26683566;26992070;27600516;28832583;28839118;28904123;29242379;29371260;29437277;30044662;30410026;32157095;32357974;32897882;33298915;33537174;33968037;34226295;34405274;34830485;35051231;37589989;37892142;38178039;7929580", "class_list": "", "function": "Aging-dependent loss of GAP junction proteins Cx46 and Cx50 in the fiber cells of human and mouse lenses accounts for the diminished coupling conductance., [RefSeq, PubMed]; Connexin46 Expression Enhances Cancer Stem Cell and Epithelial-to-Mesenchymal Transition Characteristics of Human Breast Cancer MCF-7 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Connexins in Cancer, the Possible Role of Connexin46 as a Cancer Stem Cell-Determining Protein. Review article Publication Status: Online-Only, [RefSeq, PubMed]; GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery., [RefSeq, PubMed]; Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:30044662)., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q0VAB7;Q9H537", "ec_number_list": [], "go_molecular_function": "GO:0055077 gap junction hemi-channel activity;GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0007601 visual perception;GO:1990349 gap junction-mediated intercellular transport", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9Y6H8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04080-1", "uniprot_id": [ { "id": "CYTB_HUMAN", "url": "https://www.uniprot.org/uniprot/P04080", "type": "external" } ], "mass": 11140.0, "length": 98, "protein_name": "Cystatin-B", "gene_name": "CSTB", "organism": "Human", "refseq_name": "cystatin-B", "refseq_ac": [ { "id": "NP_000091", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000091", "type": "external" } ], "gene_names_uniprotkb": "CSTB; CST6; STFB", "gene_names_refseq": "CPI-B; CST6; CSTB; EPM1A; EPM1; PME; STFB; ULD", "protein_names_uniprotkb": "Cystatin-B; CPI-B; Liver thiol proteinase inhibitor; Stefin-B", "protein_names_refseq": "cystatin B (stefin B); cystatin-B; epididymis secretory sperm binding protein; liver thiol proteinase inhibitor", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); progressive myoclonus epilepsy 1A (Disease Ontology:DOID:0111452); morbid obesity (Disease Ontology:DOID:11981); alcoholic hepatitis (Disease Ontology:DOID:12351); cholestasis (Disease Ontology:DOID:13580); extrahepatic cholestasis (Disease Ontology:DOID:13619); Unverricht-Lundborg syndrome (Disease Ontology:DOID:3535); progressive myoclonus epilepsy (Disease Ontology:DOID:891)", "pathway": " (hsa:1476); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "11139332;11237011;15329070;15483648;18491316;18512783;20068231;21081667;22223895;23301498;2347312;23650620;24715725;25502872;26992070;27920218;28467828;28834231;29242379;29351928;29393594;29508533;29557506;30192525;30379171;30429286;30484775;31154438;31217245;31530632;31611695;31844290;31848261;32157095;32161166;32162841;32350084;32938616;32983136;33043033;33141586;33214551;33592498;33717175;33912179;33968037;34019948;34078123;34229054;34357683;35051231;35251023;35580925;35647202;36083516;36215666;36241641;36429055;37938771;38247861;38436260;3902020;40596516;7543407;8596935;8692836;9012407;9054946;9342192", "class_list": "glycogene", "function": "Biomarker cystatin B expression correlates with pathogenesis in cervical cancer., [RefSeq, PubMed]; Brief Report: Intracellular Cystatin B Levels Are Altered in HIV-Infected Participants With Respect to Neurocognitive Status and Antiretroviral Therapy., [RefSeq, PubMed]; Decreased CSTB, RAGE, and Axl Receptor Are Associated with Zika Infection in the Human Placenta. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of NMP22 and CSTB Levels in Predicting Postoperative Recurrence of Bladder Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]., [RefSeq]; This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 149, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0003723 RNA binding;GO:0004866 endopeptidase inhibitor activity;GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0045861 negative regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P04080-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D2H0-1", "uniprot_id": [ { "id": "CTGEF_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D2H0", "type": "external" } ], "mass": 87868.0, "length": 777, "protein_name": "cTAGE family member 15", "gene_name": "CTAGE15", "organism": "Human", "refseq_name": "cTAGE family member 15", "refseq_ac": [ { "id": "NP_001008747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008747", "type": "external" } ], "gene_names_uniprotkb": "CTAGE15; CTAGE15P", "gene_names_refseq": "CTAGE15P; CTAGE15; cTAGE-15", "protein_names_uniprotkb": "cTAGE family member 15; Protein cTAGE-15", "protein_names_refseq": "CTAGE family, member 15, pseudogene; cTAGE family member 15; protein cTAGE-15", "tax_id": 9606, "disease": "", "pathway": " (hsa:441294)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "17081983;20068231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6H8Z8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0070971 endoplasmic reticulum exit site", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0009306 protein secretion;GO:0035459 vesicle cargo loading", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A4D2H0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4FU28-1", "uniprot_id": [ { "id": "CTGE9_HUMAN", "url": "https://www.uniprot.org/uniprot/A4FU28", "type": "external" } ], "mass": 87953.0, "length": 777, "protein_name": "cTAGE family member 9", "gene_name": "CTAGE9", "organism": "Human", "refseq_name": "cTAGE family member 9", "refseq_ac": [ { "id": "NP_001139131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139131", "type": "external" } ], "gene_names_uniprotkb": "CTAGE9", "gene_names_refseq": "CTAGE9", "protein_names_uniprotkb": "cTAGE family member 9; Protein cTAGE-9", "protein_names_refseq": "cTAGE family member 9; cutaneous T-cell lymphoma-associated antigen 9; protein cTAGE-9", "tax_id": 9606, "disease": "", "pathway": " (hsa:643854)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "28228285", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0070971 endoplasmic reticulum exit site", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0009306 protein secretion;GO:0035459 vesicle cargo loading", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A4FU28-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40313-1", "uniprot_id": [ { "id": "CTRL_HUMAN", "url": "https://www.uniprot.org/uniprot/P40313", "type": "external" } ], "mass": 28002.0, "length": 264, "protein_name": "Chymotrypsin-like protease CTRL-1", "gene_name": "CTRL", "organism": "Human", "refseq_name": "chymotrypsin-like protease CTRL-1 precursor", "refseq_ac": [ { "id": "NP_001898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001898", "type": "external" } ], "gene_names_uniprotkb": "CTRL; CTRL1", "gene_names_refseq": "CTRL1; CTRL", "protein_names_uniprotkb": "Chymotrypsin-like protease CTRL-1; 3.4.21.-", "protein_names_refseq": "chymotrypsin-like protease CTRL-1 precursor; chymotrypsin-like protease CTRL-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:1506); (R-HSA-9925561)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "11237011;23481700;25578495;8268911", "class_list": "", "function": "This gene encodes a serine-type endopeptidase with chymotrypsin- and elastase-2-like activities. The gene encoding this zymogen is expressed specifically in the pancreas and likely functions as a digestive enzyme. [provided by RefSeq, Sep 2016]., [RefSeq]; We found CT-like activity to be an independent predictor of high-risk PCa, and as such, it may be a good candidate as a biomarker for high-risk PCa detection and stratification., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.1", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.21.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.71", "type": "external" }, { "id": "3.4.21.70", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.70", "type": "external" }, { "id": "3.4.17.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.1", "type": "external" }, { "id": "3.4.17.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.2", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.17.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.15", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "2.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.20", "type": "external" }, { "id": "3.4.21.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.2", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis;GO:0030163 protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P40313-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11509-1", "uniprot_id": [ { "id": "CP2A6_HUMAN", "url": "https://www.uniprot.org/uniprot/P11509", "type": "external" } ], "mass": 56517.0, "length": 494, "protein_name": "Cytochrome P450 2A6", "gene_name": "CYP2A6", "organism": "Human", "refseq_name": "cytochrome P450 2A6", "refseq_ac": [ { "id": "NP_000753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000753", "type": "external" } ], "gene_names_uniprotkb": "CYP2A6; CYP2A3", "gene_names_refseq": "CPA6; CYP2A3; CYP2A6; CYP2A; CYPIIA6; P450C2A; P450PB", "protein_names_uniprotkb": "Cytochrome P450 2A6; 1,4-cineole 2-exo-monooxygenase; 1.14.14.-; CYPIIA6; Coumarin 7-hydroxylase; Cytochrome P450 IIA3; Cytochrome P450(I)", "protein_names_refseq": "1,4-cineole 2-exo-monooxygenase; coumarin 7-hydroxylase; cytochrome P450 2A6; cytochrome P450 IIA3; cytochrome P450(I); cytochrome P450, family 2, subfamily A, polypeptide 6; cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6; flavoprotein-linked monooxygenase; xenobiotic monooxygenase", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); multiple synostoses syndrome (Disease Ontology:DOID:0050794); warfarin resistance (Disease Ontology:DOID:0080665); multiple synostoses syndrome 3 (Disease Ontology:DOID:0081319); lung cancer (Disease Ontology:DOID:1324); kidney cancer (Disease Ontology:DOID:263); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); pleuropulmonary blastoma (Disease Ontology:DOID:4769)", "pathway": " (hsa:1548); (R-HSA-211981); (R-HSA-211999)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "10383923;10544257;10731522;10741631;11237011;11237731;11278503;11695850;11701230;12042667;12464245;12629583;12721789;15196988;15365656;15454734;15469410;15618701;15665333;16086027;16359177;1664256;17125252;18216723;18360915;18779312;1889415;1944238;20166139;2025243;2322567;24651674;2726448;2748347;31530632;32357974;32387766;35580925;36284347;37059825;37104959;37689358;37802914;38097766;3856261;497175;6220203;7217086;7903454;8627510;8637342;8647857;8975785;9028626;9103523;9409631;9644715;9842986;9884161", "class_list": "", "function": "Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension., [RefSeq, PubMed]; CYP2A6 associates with respiratory disease risk and younger age of diagnosis: a phenome-wide association Mendelian Randomization study., [RefSeq, PubMed]; Cigarette Smoking and Intracranial Aneurysms: A Pilot Analysis of SNPs in the CYP2A6 Gene in the Italian Population., [RefSeq, PubMed]; Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide, ifosphamide and tegafur. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1,4-cineole 2-exo-monooxygenase. Possesses low phenacetin O-deethylation activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data., [RefSeq, PubMed]; Recurrent CYP2A6 gene mutation in biphasic hyalinizing psammomatous renal cell carcinoma: Additional support of three cases., [RefSeq, PubMed]; This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A7YAE5;B2R7F6;P00190;P10890;Q16803;Q4VAT9;Q4VAU0;Q4VAU1;Q9H1Z7;Q9UCU0;Q9UK48", "ec_number_list": [ { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "5.4.4.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.4.7", "type": "external" }, { "id": "1.14.14.74", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.74", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "5.3.99.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.5", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0019899 enzyme binding;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;GO:0008392 arachidonate epoxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0042178 xenobiotic catabolic process;GO:0008202 steroid metabolic process;GO:0046226 coumarin catabolic process;GO:0019373 epoxygenase P450 pathway", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P11509-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00574-1", "uniprot_id": [ { "id": "CXCR6_HUMAN", "url": "https://www.uniprot.org/uniprot/O00574", "type": "external" } ], "mass": 39280.0, "length": 342, "protein_name": "C-X-C chemokine receptor type 6", "gene_name": "CXCR6", "organism": "Human", "refseq_name": "C-X-C chemokine receptor type 6", "refseq_ac": [ { "id": "NP_006555", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006555", "type": "external" } ], "gene_names_uniprotkb": "CXCR6; BONZO; STRL33; TYMSTR", "gene_names_refseq": "BONZO; CD186; CDw186; CXCR6; STRL33; TYMSTR", "protein_names_uniprotkb": "C-X-C chemokine receptor type 6; CDw186; CXC-R6; CXCR-6; G protein-coupled receptor STRL33; G protein-coupled receptor bonzo", "protein_names_refseq": "C-X-C chemokine receptor type 6; G protein-coupled receptor; G-protein coupled receptor STRL33; G-protein coupled receptor bonzo; chemokine (C-X-C motif) receptor 6", "tax_id": 9606, "disease": "systemic scleroderma (Disease Ontology:DOID:418)", "pathway": " (hsa:10663); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;12120503;12149255;12554737;12884299;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;22678828;2423119;2534964;2748346;2834384;29493099;2970963;30192525;3098319;3260265;32938616;34087483;36010968;38889512;38959885;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9230441;9276730;9285716;9390561;9463416;9618518", "class_list": "", "function": "MiR-625-5p is a potential therapeutic target in sepsis by regulating CXCL16/CXCR6 axis and endothelial barrier., [RefSeq, PubMed]; Pan-cancer mapping of single CD8[+] T cell profiles reveals a TCF1:CXCR6 axis regulating CD28 co-stimulation and anti-tumor immunity., [RefSeq, PubMed]; Receptor for the C-X-C chemokine CXCL16. Used as a coreceptor by SIVs and by strains of HIV-2 and m-tropic HIV-1., [UniProtKB]; The present review proposes and discusses the possibility to modulate tumor self renewal affecting asymmetric/symmetric cell division targeting specific factors such as CXCR6. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a G protein-coupled receptor with seven transmembrane domains that belongs to the CXC chemokine receptor family. This family also includes CXCR1, CXCR2, CXCR3, CXCR4, CXCR5, and CXCR7. This gene, which maps to the chemokine receptor gene cluster, is expressed in several T lymphocyte subsets and bone marrow stromal cells. The encoded protein and its exclusive ligand, chemokine ligand 16 (CCL16), are part of a signalling pathway that regulates T lymphocyte migration to various peripheral tissues (the liver, spleen red pulp, intestine, lungs, and skin) and promotes cell-cell interaction with dendritic cells and fibroblastic reticular cells. CXCR6/CCL16 also controls the localization of resident memory T lymphocytes to different compartments of the lung and maintains airway resident memory T lymphocytes, which are an important first line of defense against respiratory pathogens. The encoded protein serves as an entry coreceptor used by HIV-1 and SIV to enter target cells, in conjunction with CD4. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O00575;Q9HCA5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0015026 coreceptor activity;GO:0016493 C-C chemokine receptor activity;GO:0016494 C-X-C chemokine receptor activity;GO:0019957 C-C chemokine binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O00574-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75629-1", "uniprot_id": [ { "id": "CREG1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75629", "type": "external" } ], "mass": 24075.0, "length": 220, "protein_name": "Protein CREG1", "gene_name": "CREG1", "organism": "Human", "refseq_name": "protein CREG1 precursor", "refseq_ac": [ { "id": "NP_003842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003842", "type": "external" } ], "gene_names_uniprotkb": "CREG1; CREG; PRO1409", "gene_names_refseq": "CREG1; CREG", "protein_names_uniprotkb": "Protein CREG1; Cellular repressor of E1A-stimulated genes 1", "protein_names_refseq": "protein CREG1 precursor; protein CREG1", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); lung cancer (Disease Ontology:DOID:1324); depressive disorder (Disease Ontology:DOID:1596); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); lung small cell carcinoma (Disease Ontology:DOID:5409); cocaine abuse (Disease Ontology:DOID:809); oral cavity cancer (Disease Ontology:DOID:8618)", "pathway": " (hsa:8804); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;10815803;11237011;12934103;12975309;15340161;16344469;19159218;21081667;22661428;23090970;23328677;23650620;23783831;24190977;24715725;25645385;26811146;26992070;27726376;27784214;28218747;28467828;29242379;29314611;29557506;29741879;29786170;29789417;30059200;30573663;31611695;32067910;32350084;32897882;32938616;32983136;33043033;33091337;33298915;33392160;33592498;33912179;34357683;35051231;35251023;35254053;36215666;37074911;37496998;38272853;40930100;8692836;9710587", "class_list": "", "function": "CREG1 deficiency impaired myoblast differentiation and skeletal muscle regeneration., [RefSeq, PubMed]; DNA hypermethylation: A novel mechanism of CREG gene suppression and atherosclerogenic endothelial dysfunction., [RefSeq, PubMed]; May contribute to the transcriptional control of cell growth and differentiation. Antagonizes transcriptional activation and cellular transformation by the adenovirus E1A protein. The transcriptional control activity of cell growth requires interaction with IGF2R., [UniProtKB, PubMed, PubMed]; Studies demonstrated that CREG may modulate homeostasis of vascular wall cells and inhibit inflammation of vascular tissue cells and macrophages. Mechanistically, CREG behaves like a typical soluble lysosomal protein that regulates the formation and maturation of lysosomes by modulating the small GTPase protein Rab7, to mediate autophagy in vascular vascular tissue cells. [review] Review article, [RefSeq, PubMed]; The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of CREG1 in megakaryocyte maturation and thrombocytopoiesis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 54, "disease_count": 10, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RDD4;Q8N9A3", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0005159 insulin-like growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005768 endosome;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006897 endocytosis;GO:0006914 autophagy;GO:0007040 lysosome organization;GO:0007042 lysosomal lumen acidification", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "O75629-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O96002-1", "uniprot_id": [ { "id": "CX001_HUMAN", "url": "https://www.uniprot.org/uniprot/O96002", "type": "external" } ], "mass": 13452.0, "length": 111, "protein_name": "Putative transmembrane protein CXorf1", "gene_name": "CXorf1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CXorf1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative transmembrane protein CXorf1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "9881668", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14CW0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "O96002-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00403-1", "uniprot_id": [ { "id": "COX2_HUMAN", "url": "https://www.uniprot.org/uniprot/P00403", "type": "external" } ], "mass": 25565.0, "length": 227, "protein_name": "Cytochrome c oxidase subunit 2", "gene_name": "MT-CO2", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit II", "refseq_ac": [ { "id": "YP_003024029", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024029", "type": "external" } ], "gene_names_uniprotkb": "MT-CO2; COII; COX2; COXII; MTCO2", "gene_names_refseq": "COII; COX2; MTCO2", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 2; 7.1.1.9; Cytochrome c oxidase polypeptide II", "protein_names_refseq": "cytochrome c oxidase subunit II", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 1 (Disease Ontology:DOID:0070491); colorectal carcinoma (Disease Ontology:DOID:0080199); stomach cancer (Disease Ontology:DOID:10534); Huntington's disease (Disease Ontology:DOID:12858); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:4513); (R-HSA-5419276); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9837999); (R-HSA-9864848)", "pathway_count": 7, "publication_count": 237, "publication_id_list": "10327278;10329961;10380706;10486321;10716435;10745013;10980602;11029283;11034341;11130070;11340051;11486029;11545734;11695836;11923310;11959846;12161445;12198491;12203114;12231006;12438239;12453409;12714747;12714798;12837546;12840039;12869586;12906785;12949126;12969439;1327877;13298683;13538944;14623864;14651849;14741580;14760490;15105503;15223;15250827;15522782;15589136;15870080;16115876;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17101804;17264172;17297443;17298220;17486094;17540029;1757091;17579211;17803939;18198340;18344994;18429816;186667;18692468;18782833;18991276;19113821;19439913;19487573;19503089;19690164;19716793;19822145;19841671;19968714;20080666;20182617;20186120;20351271;20378837;20929863;21750704;21958598;22172991;22262461;22342701;22363791;22424782;22427940;22645359;226894;22710082;22722860;22898188;23125284;23150584;23201127;23260140;23270816;23345593;23564345;23746447;23747254;23775793;23931759;239860;24029068;24066844;24315374;24366607;24366874;24383451;24403053;24520911;24715725;24718924;25233460;2550900;25564869;25576301;25579166;25810538;25880248;25926683;25959673;26024233;26154972;26321642;26504172;26652033;26811146;26923599;26992070;27397612;27496948;27642048;27693358;27846572;27862975;28082314;28199844;28330871;28377575;28396416;28510447;28698372;28844695;28904123;29154948;29301859;29355485;29437277;29493099;29557506;29932645;30030519;30120231;30315122;30410026;30429286;30484775;31217245;31327635;31536960;31695197;32119511;32157095;32317297;32350084;32357974;32375044;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33257573;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34093574;34171305;34211107;3427020;34357683;34509645;34704252;34725712;3475708;34932366;34943861;34969438;35051231;35154160;35318648;35580925;35750769;35870450;36010968;36215666;36241641;36284347;36302763;36581221;36596788;36629048;37141370;37938771;38665916;4288886;5666113;6094553;7219534;7530363;7623837;7979252;7989588;8119488;8277847;9806551;9843204;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q37526", "ec_number_list": [ { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "7.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.9", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.29", "type": "external" }, { "id": "1.17.99.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.17.99.9", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" } ], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0005507 copper ion binding;GO:0004129 cytochrome-c oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0042773 ATP synthesis coupled electron transport;GO:0045471 response to ethanol;GO:0001666 response to hypoxia;GO:0007595 lactation;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "P00403-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01034-1", "uniprot_id": [ { "id": "CYTC_HUMAN", "url": "https://www.uniprot.org/uniprot/P01034", "type": "external" } ], "mass": 15799.0, "length": 146, "protein_name": "Cystatin-C", "gene_name": "CST3", "organism": "Human", "refseq_name": "cystatin-C precursor", "refseq_ac": [ { "id": "NP_000090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000090", "type": "external" } ], "gene_names_uniprotkb": "CST3", "gene_names_refseq": "ADLDWA; ARMD11; CST3; HEL-S-2", "protein_names_uniprotkb": "Cystatin-C; Cystatin-3; Gamma-trace; Neuroendocrine basic polypeptide; Post-gamma-globulin", "protein_names_refseq": "bA218C14.4 (cystatin C); cystatin 3; cystatin-C precursor; epididymis secretory protein Li 2; gamma-trace; neuroendocrine basic polypeptide; post-gamma-globulin", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); hepatocellular adenoma (Disease Ontology:DOID:0050868); left ventricular failure (Disease Ontology:DOID:0051064); CST3-related cerebral amyloid angiopathy (Disease Ontology:DOID:0070027); alcohol-associated liver disease (Disease Ontology:DOID:0070658); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); age related macular degeneration 11 (Disease Ontology:DOID:0110023); asbestosis (Disease Ontology:DOID:10320); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); intracranial aneurysm (Disease Ontology:DOID:10941); familial hyperlipidemia (Disease Ontology:DOID:1168); iron deficiency anemia (Disease Ontology:DOID:11758); morbid obesity (Disease Ontology:DOID:11981); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); acoustic neuroma (Disease Ontology:DOID:12689); Guillain-Barre syndrome (Disease Ontology:DOID:12842); polyneuropathy (Disease Ontology:DOID:1389); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); drug-induced hepatitis (Disease Ontology:DOID:2044); colon cancer (Disease Ontology:DOID:219); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); peripheral vascular disease (Disease Ontology:DOID:341); middle cerebral artery infarction (Disease Ontology:DOID:3525); liver disease (Disease Ontology:DOID:409); pneumonia (Disease Ontology:DOID:552); kidney disease (Disease Ontology:DOID:557); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); extrinsic allergic alveolitis (Disease Ontology:DOID:841); oral cavity cancer (Disease Ontology:DOID:8618); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy (MONDO:MONDO:0979226)", "pathway": " (hsa:1471); (R-HSA-381426); (R-HSA-6798695); (R-HSA-8957275); (R-HSA-977225)", "pathway_count": 5, "publication_count": 189, "publication_id_list": "10026136;10077652;10097139;10218588;10319874;10391242;10411933;10512690;10583407;10614670;10681634;10810289;10898936;10912521;10951195;10956649;10990447;11158056;11250653;11264294;11276250;11278841;11316783;11401442;11467836;11522292;11590439;11606061;11739083;11751371;11788658;11815350;118839;12241545;12379487;12454989;12466191;1270801;12810533;12904166;1352269;1370451;1383255;14506261;14567678;15064394;15126567;15274116;15308688;15340161;15469690;15485880;15525596;15642270;15962837;16170782;16174740;16635487;16799559;17047378;17249697;17312271;17425515;17985932;18065497;18070888;1837051;18449172;18484335;1849145;18512783;18702456;19011241;19658395;19828817;19838169;20189825;20676056;20807650;2118650;2153254;21584879;2195544;22065755;22131221;22905912;2363674;23650620;23813966;23986888;2409350;2476804;2479552;24833601;24893886;2541223;25502872;25523424;25548167;2567273;25893795;26018760;26091039;26417681;26668317;26686862;26807092;26992070;27452731;27600516;2764935;279930;28904123;2900981;29242379;29557506;29632711;29789417;3035556;30429286;30484775;3053705;3080684;3094007;31217245;3142462;31611695;31844290;31848261;32157095;32162841;32350084;32387766;32505227;32983136;33043033;33141586;33968037;34078123;34171305;34433824;3495457;35051231;35154160;35251023;35580925;36284347;3675579;38145311;38489591;38708345;38729262;38761032;39147193;6283552;6365094;6662498;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8033412;8097946;8108423;8114934;8159701;8464497;8490014;8692836;8781553;8817670;8870004;8894645;8964575;9006323;9054935;9497324;9709957;9733769;9786878;9862427;9922210", "class_list": "glycogene", "function": "As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity., [UniProtKB]; CST3 alleviates retinal vascular leakage by regulating the Rap1 signaling pathway., [RefSeq, PubMed]; CST3 exhibits an antimicrobial activity against herpes simplex virus., [RefSeq, PubMed]; Cystatin C and eGFRCKD-EPI-CysC: novel biomarkers for renal impairment diagnosis and two-year progression-free survival in multiple myeloma., [RefSeq, PubMed]; Cystatin C: immunoregulation role in macrophages infected with Porphyromonas gingivalis. Publication Status: Online-Only, [RefSeq, PubMed]; Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy., [RefSeq, PubMed]; Monomer-Dimer Equilibrium of Human Cystatin C During Internalization Into Cancer Cells., [RefSeq, PubMed]; The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 251, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic; diagnostic", "glycan_count": 0, "disease_count": 49, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5J9;D3DW42;Q6FGW9", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0030414 peptidase inhibitor activity;GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0006952 defense response;GO:0006955 immune response;GO:0060313 negative regulation of blood vessel remodeling;GO:0045861 negative regulation of proteolysis;GO:0010711 negative regulation of collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "P01034-1", "record_type": "protein", "filter_code": "1001000.1100111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01036-1", "uniprot_id": [ { "id": "CYTS_HUMAN", "url": "https://www.uniprot.org/uniprot/P01036", "type": "external" } ], "mass": 16214.0, "length": 141, "protein_name": "Cystatin-S", "gene_name": "CST4", "organism": "Human", "refseq_name": "cystatin-S precursor", "refseq_ac": [ { "id": "NP_001890", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001890", "type": "external" } ], "gene_names_uniprotkb": "CST4", "gene_names_refseq": "CST4", "protein_names_uniprotkb": "Cystatin-S; Cystatin-4; Cystatin-SA-III; Salivary acidic protein 1", "protein_names_refseq": "cystatin 4; cystatin-S precursor; cystatin-SA-III; salivary acidic protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:1472)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "1334620;16959974;1741693;1747107;1778989;1898055;1898352;20189825;24261636;25946035;33811900;3496880;36241641;37122229;6394600;6501254", "class_list": "", "function": "Findings suggest the mechanism of inhibition of SAP-1 (an N-terminal truncated form of cystatin S) for different proteases., [RefSeq, PubMed]; Prognostic value of immune-related cells and genes in the tumor microenvironment of ovarian cancer, especially CST4., [RefSeq, PubMed]; The Diagnosis Significance of Serum Cysteine Protease Inhibitors (CST4) in Colorectal Cancer., [RefSeq, PubMed]; The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. [provided by RefSeq, Jul 2008]., [RefSeq]; This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain. Papain is inhibited non-competitively., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UBI5;Q9UCS9", "ec_number_list": [], "go_molecular_function": "GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0070062 extracellular exosome;GO:0031982 vesicle", "go_biological_process": "GO:0045861 negative regulation of proteolysis;GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P01036-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG41-1", "uniprot_id": [ { "id": "CTGE8_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG41", "type": "external" } ], "mass": 88077.0, "length": 777, "protein_name": "cTAGE family member 8", "gene_name": "CTAGE8", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CTAGE8", "gene_names_refseq": "", "protein_names_uniprotkb": "cTAGE family member 8; Protein cTAGE-8", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:100142659)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0070971 endoplasmic reticulum exit site", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0009306 protein secretion;GO:0035459 vesicle cargo loading", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0CG41-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10176-1", "uniprot_id": [ { "id": "COX8A_HUMAN", "url": "https://www.uniprot.org/uniprot/P10176", "type": "external" } ], "mass": 7579.0, "length": 69, "protein_name": "Cytochrome c oxidase subunit 8A, mitochondrial", "gene_name": "COX8A", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 8A, mitochondrial", "refseq_ac": [ { "id": "NP_004065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004065", "type": "external" } ], "gene_names_uniprotkb": "COX8A; COX8L; COX8", "gene_names_refseq": "COX8-2; COX8A; COX8L; COX8; COX; MC4DN15; VIII-L; VIII", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 8A, mitochondrial; Cytochrome c oxidase polypeptide VIII-liver/heart; Cytochrome c oxidase subunit 8-2", "protein_names_refseq": "cytochrome c oxidase polypeptide VIII-liver/heart; cytochrome c oxidase subunit 8-2; cytochrome c oxidase subunit 8A (ubiquitous); cytochrome c oxidase subunit 8A, mitochondrial; cytochrome c oxidase subunit VIIIA (ubiquitous); cytochrome c oxidase subunit VIII", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 15 (Disease Ontology:DOID:0070500); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); breast adenocarcinoma (Disease Ontology:DOID:3458); liver cancer (Disease Ontology:DOID:3571); lung non-small cell carcinoma (Disease Ontology:DOID:3908); ovarian carcinoma (Disease Ontology:DOID:4001); renal cell carcinoma (Disease Ontology:DOID:4450); hepatocellular carcinoma (Disease Ontology:DOID:684); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991)", "pathway": " (hsa:1351); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 159, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;186667;18692468;19113821;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20877624;20929863;21750704;21958598;22342701;22363791;22427940;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24714562;24715725;24718924;2543673;25469497;25502872;25564869;25579166;25880248;25926683;25959673;26154972;26321642;26652033;26685157;26992070;27397612;27693358;27726376;27920218;28082314;28199844;28228285;28330871;28467828;2847943;28698372;28844695;29154948;29437277;29493099;29508533;29557506;30030519;30315122;30410026;31217245;31536960;31611695;31844290;31848261;32157095;32317297;32375044;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33705280;33912179;33936100;33968037;33981976;34171305;3427020;34357683;34561969;3475708;34969438;35051231;35318648;35750769;36241641;36284347;38297121;39894887;4288886;5666113;6094553;7979252;7989588;8119488;9843204;9878551;9926927", "class_list": "", "function": "COX8A is indispensable for function of human complex IV and its mutation causes Leigh-like syndrome and epilepsy., [RefSeq, PubMed]; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB]; Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P15955", "ec_number_list": [], "go_molecular_function": "GO:0004129 cytochrome-c oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P10176-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12074-1", "uniprot_id": [ { "id": "CX6A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P12074", "type": "external" } ], "mass": 12155.0, "length": 109, "protein_name": "Cytochrome c oxidase subunit 6A1, mitochondrial", "gene_name": "COX6A1", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 6A1, mitochondrial", "refseq_ac": [ { "id": "NP_004364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004364", "type": "external" } ], "gene_names_uniprotkb": "COX6A1; COX6AL", "gene_names_refseq": "CMTRID; COX6A1; COX6AL; COX6A", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 6A1, mitochondrial; COX VIa-L; Cytochrome c oxidase polypeptide VIa-liver; Cytochrome c oxidase subunit VIA-liver", "protein_names_refseq": "COX VIa-L; cytochrome C oxidase subunit VIa homolog; cytochrome c oxidase polypeptide VIa-liver; cytochrome c oxidase subunit 6A1, mitochondrial; cytochrome c oxidase subunit VIA-liver; cytochrome c oxidase subunit VIa liver isoform; cytochrome c oxidase subunit VIa polypeptide 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); familial hypocalciuric hypercalcemia 1 (Disease Ontology:DOID:0060700); calcium oxalate nephrolithiasis (Disease Ontology:DOID:0080652); autosomal dominant hypocalcemia 1 (Disease Ontology:DOID:0090107); autosomal dominant hypocalcemia (Disease Ontology:DOID:0090109); Charcot-Marie-Tooth disease recessive intermediate D (Disease Ontology:DOID:0110203); intellectual disability (Disease Ontology:DOID:1059); secondary hyperparathyroidism (Disease Ontology:DOID:12466); hypercalcemia (Disease Ontology:DOID:12678); hyperparathyroidism (Disease Ontology:DOID:13543); atherosclerosis (Disease Ontology:DOID:1936); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); myocardial infarction (Disease Ontology:DOID:5844); nephrolithiasis (Disease Ontology:DOID:585); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); mitochondrial encephalomyopathy (Disease Ontology:DOID:890)", "pathway": " (hsa:1337); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 180, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;1286669;12869586;12906785;12969439;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;186667;18692468;19113821;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20707881;20929863;21750704;21872626;21958598;22342701;22363791;22427940;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24715725;24718924;25152455;2549515;25505266;25564869;25579166;25666558;25810538;25926683;25959673;26154972;26321642;26652033;26811146;26992070;27452731;27693358;27862975;27920218;28082314;28199844;28218747;28228285;28330871;28467828;28514659;28698372;28832583;28834231;28844695;28855257;28904123;29154948;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;30030519;30192525;30315122;30410026;30429286;30484775;31154438;31217245;31536960;31611695;31844290;32157095;32317297;32357974;32375044;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;34078123;34087483;34171305;3427020;34509645;34561969;3475708;34969438;35051231;35318648;35561310;35580925;35750769;36010968;36241641;36284347;37938771;4288886;5666113;6094553;7979252;7989588;8119488;9843204;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB]; Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]., [RefSeq]; We demonstrate a developmental isoform switch of COX6A and COX7A subunits in human and mouse skeletal muscle, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R500;O43714;Q32Q37", "ec_number_list": [], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "P12074-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20815-1", "uniprot_id": [ { "id": "CP3A5_HUMAN", "url": "https://www.uniprot.org/uniprot/P20815", "type": "external" } ], "mass": 57109.0, "length": 502, "protein_name": "Cytochrome P450 3A5", "gene_name": "CYP3A5", "organism": "Human", "refseq_name": "cytochrome P450 3A5 isoform 1", "refseq_ac": [ { "id": "NP_000768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000768", "type": "external" } ], "gene_names_uniprotkb": "CYP3A5", "gene_names_refseq": "CP35; CYP3A5; CYPIIIA5; P450PCN3; PCN3", "protein_names_uniprotkb": "Cytochrome P450 3A5; 1.14.14.1; CYPIIIA5; Cytochrome P450-PCN3", "protein_names_refseq": "aryl hydrocarbon hydroxylase; cytochrome P450 3A5 isoform 1; cytochrome P450 3A5; cytochrome P450 HLp2; cytochrome P450, family 3, subfamily A, polypeptide 5; cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5; cytochrome P450-PCN3; flavoprotein-linked monooxygenase; microsomal monooxygenase; xenobiotic monooxygenase", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); essential hypertension (Disease Ontology:DOID:10825); cholestasis (Disease Ontology:DOID:13580); depressive disorder (Disease Ontology:DOID:1596); anxiety disorder (Disease Ontology:DOID:2030); liver cirrhosis (Disease Ontology:DOID:5082); oral submucous fibrosis (Disease Ontology:DOID:5773); end stage renal disease (Disease Ontology:DOID:783); chronic myeloid leukemia (Disease Ontology:DOID:8552); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:1577); (R-HSA-211981); (R-HSA-5423646)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10383923;10681376;11093772;11266076;11409944;11502729;11726664;11904223;12144777;12464245;12629583;12727802;12865317;12893984;12933810;1504254;15196988;15365656;15454734;15469410;15665333;16359177;16385575;1643250;16970545;18357469;18416522;19463;20058876;2025243;2573352;2732228;2802615;29557506;32325220;3372534;34185709;35494241;35580925;36240223;36284347;38928254;38962329;39068579;39147616;39265714;3931076;39894887;6220203;7217086;7764673;7766804;7811260;7903454;8034584;8439558;8569713;8619878;8647857;8703034;8812420;8975785;9278457;9576847;9644715;9842986", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins (PubMed:10681376, PubMed:11093772, PubMed:12865317, PubMed:2732228). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds (PubMed:10681376, PubMed:11093772, PubMed:12865317, PubMed:2732228). Exhibits high catalytic activity for the formation of catechol estrogens from 17beta-estradiol (E2) and estrone (E1), namely 2-hydroxy E1 and E2 (PubMed:12865317). Catalyzes 6beta-hydroxylation of the steroid hormones testosterone, progesterone, and androstenedione (PubMed:2732228). Catalyzes the oxidative conversion of all-trans-retinol to all-trans-retinal, a rate-limiting step for the biosynthesis of all-trans-retinoic acid (atRA) (PubMed:10681376). Further metabolizes all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may play a role in hepatic atRA clearance (PubMed:11093772). Also involved in the oxidative metabolism of xenobiotics, including calcium channel blocking drug nifedipine and immunosuppressive drug cyclosporine (PubMed:2732228)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Association of genetic variants in CYP3A5, DRD2 and NK1R with opioid overdose., [RefSeq, PubMed]; Correlation of Genetic Polymorphism of CYP3A5 to Cyclophosphamide Efficacy and Toxicity in Rhabdomyosarcoma Pediatric Egyptian Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Effect of CYP3A5 Gene Polymorphisms on Tacrolimus Blood Concentrations and Adverse Events in Allogeneic Hematopoietic Stem Cell Transplant Patients., [RefSeq, PubMed]; Impact of CYP3A5 Polymorphisms on Pediatric Asthma Outcomes. Publication Status: Online-Only, [RefSeq, PubMed]; The Frequencies distribution of CYP3A5 rs776746 and ABCB1 rs1045642 polymorphisms in the west Algerian population and relationships with pharmacogenetics., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D289;B7Z5I7;Q53WY8;Q75MV0;Q9HB56", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.14", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.14", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "1.14.14.130", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.130", "type": "external" }, { "id": "5.3.99.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.5", "type": "external" }, { "id": "1.14.14.25", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.25", "type": "external" } ], "go_molecular_function": "GO:0008401 retinoic acid 4-hydroxylase activity;GO:0101020 estrogen 16-alpha-hydroxylase activity;GO:0005506 iron ion binding;GO:0016491 oxidoreductase activity;GO:0020037 heme binding", "go_cellular_component": "GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0002933 lipid hydroxylation;GO:0008210 estrogen metabolic process;GO:0042572 retinol metabolic process;GO:0042573 retinoic acid metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P20815-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25024-1", "uniprot_id": [ { "id": "CXCR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P25024", "type": "external" } ], "mass": 39791.0, "length": 350, "protein_name": "C-X-C chemokine receptor type 1", "gene_name": "CXCR1", "organism": "Human", "refseq_name": "C-X-C chemokine receptor type 1", "refseq_ac": [ { "id": "NP_000625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000625", "type": "external" } ], "gene_names_uniprotkb": "CXCR1; CMKAR1; IL8RA", "gene_names_refseq": "C-C-CKR-1; C-C; CD128; CD181; CDw128a; CKR-1; CMKAR1; CXCR1; IL8R1; IL8RA; IL8RBA", "protein_names_uniprotkb": "C-X-C chemokine receptor type 1; CDw128a; CXC-R1; CXCR-1; High affinity interleukin-8 receptor A; IL-8 receptor type 1; IL-8R A", "protein_names_refseq": "C-X-C chemokine receptor type 1; CXC-R1; CXCR-1; IL-8 receptor type 1; IL-8R A; chemokine (C-X-C motif) receptor 1; high affinity interleukin-8 receptor A; interleukin 8 receptor, alpha; interleukin-8 receptor type 1; interleukin-8 receptor type A", "tax_id": 9606, "disease": "urinary tract infection (Disease Ontology:DOID:0080784); pyelonephritis (Disease Ontology:DOID:11400); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:3577); (R-HSA-380108); (R-HSA-418594); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10229797;10368283;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11196695;12120503;12149255;12554737;12884299;1379593;15067078;15951850;16107333;16205979;16634148;16923326;1744577;1840701;18434541;18577758;1891716;19531498;20002784;2078213;2217207;23650620;2423119;2534964;2748346;2834384;2970963;3098319;31844290;3260265;34105348;35051231;36010968;38407596;38426279;38891100;39244903;7602097;7622448;7642634;7679328;7851893;7875320;7929358;7937899;8015379;8048929;8120387;8315383;8383238;8384312;8406495;8486366;8639485;8662698;8692836;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "CXCL8 and its cognate receptors CXCR1/CXCR2 in primary myelofibrosis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; IL-8 promotes lens capsular residual cells migration by down-regulates expression of E-cadherin and ZO-1 via the CXCR1/2-NF-kappaB-RhoA signal pathway., [RefSeq, PubMed]; Interleukin-8/CXCR1 Signaling Contributes to the Progression of Pulmonary Adenocarcinoma Resulting in Malignant Pleural Effusion. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor to interleukin-8, which is a powerful neutrophils chemotactic factor (PubMed:1840701). Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:8662698)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. [provided by RefSeq, Jul 2008]., [RefSeq]; VDR, CXCR1, CXCR2, PSCA Polymorphisms and Recurrent Urinary Tract Infections in Women: Genetic Association Study., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R6Q3;Q2YEF8;Q2YEG4;Q2YEG5;Q2YEG7;Q2YEG8;Q53R18;Q6IN95;Q8N6T6;Q9P2T8;Q9P2T9;Q9P2U0;Q9P2U1;Q9P2U2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding;GO:0019959 interleukin-8 binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P25024-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28325-1", "uniprot_id": [ { "id": "CYTD_HUMAN", "url": "https://www.uniprot.org/uniprot/P28325", "type": "external" } ], "mass": 16080.0, "length": 142, "protein_name": "Cystatin-D", "gene_name": "CST5", "organism": "Human", "refseq_name": "cystatin-D precursor", "refseq_ac": [ { "id": "NP_001891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001891", "type": "external" } ], "gene_names_uniprotkb": "CST5", "gene_names_refseq": "CST5", "protein_names_uniprotkb": "Cystatin-D; Cystatin-5", "protein_names_refseq": "cystatin 5; cystatin-D precursor; cysteine-proteinase inhibitor", "tax_id": 9606, "disease": "", "pathway": " (hsa:1473)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "15728581;1939105;19662683;20189825;20223287;26158294;26364852;28694499;32157095;32488085;8083219;8340398;8444475", "class_list": "glycogene", "function": "Activation of the RhoA-ROCK-p38MAPK-MSK signaling pathway is essential for the regulation of the phenotype and of the CST5/cystatin D candidate tumor suppressor and other target genes by 1,25(OH)2D3 in colon cancer cells, [RefSeq, PubMed]; CST5 has demonstrated the ability to differentiate between severely traumatic brain injury (TBI) patients and those with either mild or no brain injury within the first hour highlighting it as new TBI biomarker. Erratum:[Sci Rep. 2018 Mar 12;8(1):4572. doi: 10.1038/s41598-018-22951-0. PMID: 29531266] Publication Status: Online-Only, [RefSeq, PubMed]; Cystatin D is a candidate tumor suppressor gene induced by vitamin D in human colon cancer cells., [RefSeq, PubMed]; Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B., [UniProtKB, PubMed]; Results imply CST5 as an important mediator of tumor suppression by p53 in colorectal cancer., [RefSeq, PubMed]; The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008]., [RefSeq]; These results support an unanticipated role of cystatin D in the cell nucleus, controlling the transcription of specific genes involved in crucial cellular functions, which may mediate its protective action in colon cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 267, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JRF5;Q9UCA0", "ec_number_list": [], "go_molecular_function": "GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0070062 extracellular exosome;GO:0031982 vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P28325-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29033-1", "uniprot_id": [ { "id": "CXB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P29033", "type": "external" } ], "mass": 26215.0, "length": 226, "protein_name": "Gap junction beta-2 protein", "gene_name": "GJB2", "organism": "Human", "refseq_name": "gap junction beta-2 protein", "refseq_ac": [ { "id": "NP_003995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003995", "type": "external" } ], "gene_names_uniprotkb": "GJB2", "gene_names_refseq": "BAPS; CX26; DFNA3A; DFNA3; DFNB1A; DFNB1; GJB2; HID; KID; NSRD1; PPK", "protein_names_uniprotkb": "Gap junction beta-2 protein; Connexin-26; Cx26", "protein_names_refseq": "connexin 26; gap junction beta 2 proteinc; gap junction beta-2 protein; gap junction protein, beta 2, 26kDa; mutant gap junction beta 2 protein; mutant gap junction protein beta 2", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness (Disease Ontology:DOID:0050565); Bart-Pumphrey syndrome (Disease Ontology:DOID:0050658); autosomal dominant keratitis-ichthyosis-deafness syndrome (Disease Ontology:DOID:0060871); autosomal recessive nonsyndromic deafness 1A (Disease Ontology:DOID:0110475); autosomal dominant nonsyndromic deafness 3A (Disease Ontology:DOID:0110564); Vohwinkel syndrome (Disease Ontology:DOID:0111339); palmoplantar keratoderma-deafness syndrome (Disease Ontology:DOID:0111505); sensorineural hearing loss (Disease Ontology:DOID:10003); urethral obstruction (Disease Ontology:DOID:12577); extrahepatic cholestasis (Disease Ontology:DOID:13619); ischemia (Disease Ontology:DOID:326); lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684); autoimmune thyroiditis (Disease Ontology:DOID:7188); ichthyosis, hystrix-like, with hearing loss (MONDO:MONDO:0011245)", "pathway": " (hsa:2706); (R-HSA-190704); (R-HSA-190827); (R-HSA-190861); (R-HSA-190872)", "pathway_count": 5, "publication_count": 71, "publication_id_list": "10191254;10369869;10607953;10633135;10646523;10757647;10807696;10830906;11313763;11439000;11719551;11912510;12072059;12121355;12189487;12239718;12372058;12548749;12560944;12668604;12746422;12752120;12786758;1324944;14694360;14722929;15482471;15536180;15592461;15666300;15700112;15952212;15954104;15994881;15996214;16849369;17200141;17551008;17660464;17666888;17935238;17993581;1850831;18688874;19283857;19340074;19384972;19416251;19864490;21094651;23680645;26753910;28281779;30872814;31160754;32938616;33968037;38829031;39162005;39414589;7929580;9139825;9184217;9328482;9336442;9422505;9471561;9529365;9600457;9620796;9856479", "class_list": "", "function": "GJB2 Promotes HCC Progression by Activating Glycolysis Through Cytoplasmic Translocation and Generating a Suppressive Tumor Microenvironment Based on Single Cell RNA Sequencing., [RefSeq, PubMed]; Structural component of gap junctions (PubMed:16849369, PubMed:17551008, PubMed:19340074, PubMed:19384972, PubMed:21094651, PubMed:26753910). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:16849369, PubMed:19384972, PubMed:21094651)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structures of wild-type and a constitutively closed mutant of connexin26 shed light on channel regulation by CO2. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the gap junction protein family (gap junction beta 2) but is more commonly known as connexin 26. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. Connexins form hexameric channels in the plasma membrane which regulate passage of ions and small molecules between the cell and its environment or, when joined with another cell, form a dodecameric intercellular gap junction channel. The connexin proteins are grouped into alpha, beta, and gamma subfamilies. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Mar 2026]., [RefSeq]; [Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q508A5;Q508A6;Q5YLL0;Q5YLL1;Q5YLL4;Q6IPV5;Q86U88;Q96AK0;Q9H536;Q9NNY4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:1903763 gap junction channel activity involved in cell communication by electrical coupling;GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment;GO:0005921 gap junction;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0055085 transmembrane transport;GO:0007605 sensory perception of sound;GO:0048839 inner ear development;GO:0016264 gap junction assembly", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P29033-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29279-1", "uniprot_id": [ { "id": "CCN2_HUMAN", "url": "https://www.uniprot.org/uniprot/P29279", "type": "external" } ], "mass": 38091.0, "length": 349, "protein_name": "CCN family member 2", "gene_name": "CCN2", "organism": "Human", "refseq_name": "CCN family member 2 precursor", "refseq_ac": [ { "id": "NP_001892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001892", "type": "external" } ], "gene_names_uniprotkb": "CCN2; CTGF; HCS24; IGFBP8", "gene_names_refseq": "CCN2; CTGF; HCS24; IBP-8; IGFBP8; KMD; NOV2; SEMDLSL", "protein_names_uniprotkb": "CCN family member 2; Cellular communication network factor 2; Connective tissue growth factor; Hypertrophic chondrocyte-specific protein 24; IBP-8; IGF-binding protein 8; IGFBP-8; Insulin-like growth factor-binding protein 8", "protein_names_refseq": "CCN family member 2 precursor; CCN family member 2; IGF-binding protein 8; connective tissue growth factor; hypertrophic chondrocyte-specific protein 24; insulin-like growth factor-binding protein 8", "tax_id": 9606, "disease": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type (Disease Ontology:DOID:0051046); kyphomelic dysplasia (Disease Ontology:DOID:0061155); bone disease (Disease Ontology:DOID:0080001); primary biliary cholangitis (Disease Ontology:DOID:12236); endomyocardial fibrosis (Disease Ontology:DOID:12932); Parkinson's disease (Disease Ontology:DOID:14330); cancer (Disease Ontology:DOID:162); osteochondrodysplasia (Disease Ontology:DOID:2256); ovarian cancer (Disease Ontology:DOID:2394); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); restrictive cardiomyopathy (Disease Ontology:DOID:397); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); aortic valve insufficiency (Disease Ontology:DOID:57); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); tendinitis (Disease Ontology:DOID:971); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:1490); (R-HSA-2032785); (R-HSA-8951671)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10228168;10587520;10614647;12553878;1293144;16332960;1654338;1756408;18579750;19324876;19324877;20110263;23090970;23584533;24190977;25813380;26364597;27862975;29557506;30232710;30429286;30484775;31844290;32157095;32488085;33592498;34019948;34171305;35051231;35580925;36241641;36284347;38134555;38167009;38602559;38665916;39414788;39470347;39506047;9054739;9584153;9651244", "class_list": "", "function": "A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass. Publication Status: Online-Only, [RefSeq, PubMed]; CCN2/CTGF expression does not correlate with fibrosis in myeloproliferative neoplasms, consistent with noncanonical TGF-beta signaling driving myelofibrosis., [RefSeq, PubMed]; CTGF regulates mineralization in human mature chondrocyte by controlling Pit-1 and modulating ANK via the BMP/Smad signalling., [RefSeq, PubMed]; Characterization of gastric cancer-stimulated signaling pathways and function of CTGF in cancer-associated fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; Extracellular matrix protein 1 binds to connective tissue growth factor against liver fibrosis and ductular reaction. Publication Status: Online-Only, [RefSeq, PubMed]; Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Is involved in the stimulation of osteoblast differentiation and has a critical role in osteogenesis (PubMed:39414788). Mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. Enhances fibroblast growth factor-induced DNA synthesis., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 23, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "E1P578;Q6LCY0;Q96A79;Q96QX2;Q9UDL6", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0005520 insulin-like growth factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0046330 positive regulation of JNK cascade;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P29279-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35212-1", "uniprot_id": [ { "id": "CXA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P35212", "type": "external" } ], "mass": 37414.0, "length": 333, "protein_name": "Gap junction alpha-4 protein", "gene_name": "GJA4", "organism": "Human", "refseq_name": "gap junction alpha-4 protein", "refseq_ac": [ { "id": "NP_002051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002051", "type": "external" } ], "gene_names_uniprotkb": "GJA4", "gene_names_refseq": "CX37; GJA4", "protein_names_uniprotkb": "Gap junction alpha-4 protein; Connexin-37; Cx37", "protein_names_refseq": "connexin-37; gap junction alpha-4 protein; gap junction protein, alpha 4, 37kDa", "tax_id": 9606, "disease": "coronary artery disease (Disease Ontology:DOID:3393); ureteral obstruction (Disease Ontology:DOID:5199); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:2701); (R-HSA-190861)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10191254;10447790;10728596;11237011;15536180;17200141;1850831;29557506;31154438;34185709;35051231;35580925;35902510;36209871;37072338;37197981;39175027;7680674;7929580;8761439", "class_list": "", "function": "A clinicopathological reappraisal of orbital vascular malformations and distinctive GJA4 mutation in cavernous venous malformations. Review article, [RefSeq, PubMed]; Connexin 37 sequestering of activated-ERK in the cytoplasm promotes p27-mediated endothelial cell cycle arrest. Publication Status: Online-Only, [RefSeq, PubMed]; Determinants of vascular impairment in type 1 diabetes-impact of sex and connexin 37 gene polymorphism: A cross-sectional study. Publication Status: Online-Only, [RefSeq, PubMed]; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell., [UniProtKB, UniProtKB, UniProtKB]; Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations., [RefSeq, PubMed]; Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells. Forms homotypic and heterotypic channels gated by transjunctional voltage. Involved in intercellular innate immune signaling. Mediates translocation of 2',3'-cGAMP and 2',5'-oligoadenylates (2-5A) second messengers from virus-infected cells to macrophages and uninfected neighboring cells to propagate and amplify the antiviral immune response., [UniProtKB, UniProtKB]; This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K698;D3DPR4;Q9P106;Q9UBL1;Q9UNA9;Q9UNB0;Q9UNB1;Q9Y5N7", "ec_number_list": [], "go_molecular_function": "GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005921 gap junction;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0007043 cell-cell junction assembly;GO:0007154 cell communication", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P35212-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXR6-1", "uniprot_id": [ { "id": "FHR5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXR6", "type": "external" } ], "mass": 64419.0, "length": 569, "protein_name": "Complement factor H-related protein 5", "gene_name": "CFHR5", "organism": "Human", "refseq_name": "complement factor H-related protein 5 precursor", "refseq_ac": [ { "id": "NP_110414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110414", "type": "external" } ], "gene_names_uniprotkb": "CFHR5; CFHL5; FHR5", "gene_names_refseq": "CFHL5; CFHR5D; CFHR5; FHR-5; FHR5", "protein_names_uniprotkb": "Complement factor H-related protein 5; FHR-5", "protein_names_refseq": "complement factor H-related protein 5 precursor; factor H-related protein 5", "tax_id": 9606, "disease": "C3 glomerulonephritis (MONDO:MONDO:0013892)", "pathway": " (hsa:81494); (R-HSA-977606)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10531307;1067618;11058592;11237011;11694537;11939578;12041828;12055245;1386357;16079145;16192651;16959974;16999828;17182573;17505110;20513133;20800271;21788512;22503529;22622361;22802338;23487775;2420889;2465906;2466593;2481448;25892735;28228285;293688;293746;2956252;2971659;29741879;301546;30459171;31844290;34566977;35051231;35392081;35580925;37074911;37286573;38418621;3848661;38567599;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8345200;8495193;8786315;9038722;978134", "class_list": "", "function": "Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study., [RefSeq, PubMed]; Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism. Erratum:[Nat Commun. 2023 Nov 27;14(1):7752. doi: 10.1038/s41467-023-43764-4. PMID: 38012230] Publication Status: Online-Only, [RefSeq, PubMed]; FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH., [UniProtKB, PubMed]; Maps to between FHR-2 and the non-complement protein factor XIIIb at 1q32., [RefSeq, PubMed]; The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis., [RefSeq, PubMed]; This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 24, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q2NKK2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0001851 complement component C3b binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0032991 protein-containing complex", "go_biological_process": "GO:0032091 negative regulation of protein binding;GO:0051838 cytolysis by host of symbiont cells;GO:0006956 complement activation;GO:0006957 complement activation, alternative pathway", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9BXR6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXL5-1", "uniprot_id": [ { "id": "HEMGN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXL5", "type": "external" } ], "mass": 55341.0, "length": 484, "protein_name": "Hemogen", "gene_name": "HEMGN", "organism": "Human", "refseq_name": "hemogen", "refseq_ac": [ { "id": "NP_060907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060907", "type": "external" } ], "gene_names_uniprotkb": "HEMGN; EDAG; NDR; PRO1037; PRO1620", "gene_names_refseq": "CT155; EDAG-1; EDAG; HEMGN; NDR", "protein_names_uniprotkb": "Hemogen; EDAG-1; Erythroid differentiation-associated gene protein; Hemopoietic gene protein; Negative differentiation regulator protein", "protein_names_refseq": "erythroid differentiation-associated gene protein; hemogen; hemopoietic gene protein; negative differentiation regulator protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55363)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11404085;14648837;14730214;15332117;15920494;19651622;23186163;23436708;26154972;28832583;29324880;29557506;30429286;31848261;32350948;33203523;33451334;35132862;35580925;36563642", "class_list": "", "function": "Cancer/testis antigen HEMGN correlated with immune infiltration serves as a prognostic biomarker in lung adenocarcinoma., [RefSeq, PubMed]; Circ_PSD3 promotes the progression of papillary thyroid carcinoma via the miR-637/HEMGN axis., [RefSeq, PubMed]; EDAG mediates Hsp70 nuclear localization in erythroblasts and rescues dyserythropoiesis in myelodysplastic syndrome., [RefSeq, PubMed]; HEMGN and SLC2A1 might be potential diagnostic biomarkers of steroid-induced osteonecrosis of femoral head: study based on WGCNA and DEGs screening. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the activation of the nuclear factor-kappa B (NF-kB)., [UniProtKB, PubMed, PubMed, PubMed]; Results suggest a novel function of nuclear negative differentiation regulator (NDR) protein in regulating hematopoietic cell development [NDR], [RefSeq, PubMed]; These results suggest that EDAG regulates the proliferation and differentiation of hematopoietic cells and resists cell apoptosis through the activation of NF-kappa B., [RefSeq, PubMed]; Using ex vivo culture and HSC transplantation models, study finds that EDAG enhances proliferative potential of human cord blood CD34+ cells, increases survival, prevents cell apoptosis and promotes their repopulating capacity. EDAG overexpression induces rapid entry of CD34+ cells into the cell cycle. Gene expression profile analysis shows that EDAG knockdown leads to down-regulation of positive cell cycle regulators. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6XAR3;Q86XY5;Q9NPC0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0030154 cell differentiation;GO:0045667 regulation of osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9BXL5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14495-1", "uniprot_id": [ { "id": "PLPP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O14495", "type": "external" } ], "mass": 35116.0, "length": 311, "protein_name": "Phospholipid phosphatase 3", "gene_name": "PLPP3", "organism": "Human", "refseq_name": "phospholipid phosphatase 3", "refseq_ac": [ { "id": "NP_003704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003704", "type": "external" } ], "gene_names_uniprotkb": "PLPP3; LPP3; PPAP2B", "gene_names_refseq": "Dri42; LPP3; PAP2B; PLPP3; PPAP2B; VCIP", "protein_names_uniprotkb": "Phospholipid phosphatase 3; 3.1.3.-; 3.1.3.4; Lipid phosphate phosphohydrolase 3; PAP-2b; PAP2-beta; PAP2b; Phosphatidate phosphohydrolase type 2b; Phosphatidic acid phosphatase 2b; VCIP; Vascular endothelial growth factor and type I collagen-inducible protein", "protein_names_refseq": "PAP2 beta; lipid phosphate phosphohydrolase 3; phosphatidate phosphohydrolase type 2b; phosphatidic acid phosphatase type 2B; phospholipid phosphatase 3; type-2 phosphatidic acid phosphatase-beta; vascular endothelial growth factor and type I collagen inducible", "tax_id": 9606, "disease": "", "pathway": " (hsa:8613); (R-HSA-9845614)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "11018465;11356846;12411432;12660161;12815058;14527693;14725715;16099422;16782891;16940153;17005594;17379599;17382292;17713573;17924679;18215144;18558101;18578522;18619555;18669648;18691976;19664994;19664995;20068046;20089856;20123964;20699116;21406692;21569306;23591818;23721920;24190977;24715725;25286108;27126290;27694435;27862975;28228285;28904123;29229990;29242379;29557506;29726894;29786170;30090628;30429286;30575723;30635364;31154438;31362988;31844290;31848261;32157095;32162841;32376340;32938616;33912179;33968037;34502491;34561969;35051231;35580925;36284347;36575638;37217939;37938771;38665916;9305923;9607309;9705349", "class_list": "glycogene", "function": "Autotaxin-LPA-LPP3 Axis in Energy Metabolism and Metabolic Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; DNA methylation of a MIR-based enhancer downregulates the expression of PLPP3 and promotes the mineralization of the aortic valve in calcific aortic valve disease., [RefSeq, PubMed]; Findings indicate that up-regulation of PLPP3 during inflammation and atherosclerosis results from canonical activation of the NF-kappaB signaling cascade to increase PLPP3 expression through nuclear import and binding of RelA and RelB transcription factors to the PLPP3 promoter and suggest a mechanism by which the LPP3 substrate, LPA, can regulate PLPP3 expression., [RefSeq, PubMed]; Independently of this phosphatase activity may also function in the Wnt signaling pathway and the stabilization of beta-catenin/CTNNB1, thereby regulating cell proliferation, migration and differentiation in angiogenesis or yet in tumor growth (PubMed:20123964, PubMed:21569306). Also plays a role in integrin-mediated cell-cell adhesion in angiogenesis (PubMed:12660161, PubMed:16099422)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Lipid phosphate phosphatase 3 maintains NO-mediated flow-mediated dilatation in human adipose resistance arterioles., [RefSeq, PubMed]; Magnesium-independent phospholipid phosphatase of the plasma membrane that catalyzes the dephosphorylation of a variety of glycerolipid and sphingolipid phosphate esters including phosphatidate/PA, lysophosphatidate/LPA, diacylglycerol pyrophosphate/DGPP, sphingosine 1-phosphate/S1P and ceramide 1-phosphate/C1P (PubMed:27694435, PubMed:9607309, PubMed:9705349). Also acts on N-oleoyl ethanolamine phosphate/N-(9Z-octadecenoyl)-ethanolamine phosphate, a potential physiological compound (PubMed:9607309). Has both an extracellular and an intracellular phosphatase activity, allowing the hydrolysis and the cellular uptake of these bioactive lipid mediators from the milieu, regulating signal transduction in different cellular processes (PubMed:23591818, PubMed:27694435, PubMed:9607309). Through the dephosphorylation of extracellular sphingosine-1-phosphate and the regulation of its extra- and intracellular availability, plays a role in vascular homeostasis, regulating endothelial cell migration, adhesion, survival, proliferation and the production of pro-inflammatory cytokines (PubMed:27694435). By maintaining the appropriate levels of this lipid in the cerebellum, also ensure its proper development and function (By similarity). Through its intracellular lipid phosphatase activity may act in early compartments of the secretory pathway, regulating the formation of Golgi to endoplasmic reticulum retrograde transport carriers (PubMed:23591818)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Roles for lysophosphatidic acid signaling in vascular development and disease. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 353, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R651;D3DQ52;Q5U0F7;Q96GW0;Q99782", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.4", "type": "external" }, { "id": "3.1.3.106", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.106", "type": "external" }, { "id": "3.6.1.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.75", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.68", "type": "external" } ], "go_molecular_function": "GO:0005178 integrin binding;GO:0070097 delta-catenin binding;GO:0008195 phosphatidate phosphatase activity;GO:0042392 sphingosine-1-phosphate phosphatase activity;GO:0106235 ceramide-1-phosphate phosphatase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016020 membrane", "go_biological_process": "GO:0006670 sphingosine metabolic process;GO:0030149 sphingolipid catabolic process;GO:0007165 signal transduction;GO:0007229 integrin-mediated signaling pathway;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "O14495-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06401-1", "uniprot_id": [ { "id": "PRGR_HUMAN", "url": "https://www.uniprot.org/uniprot/P06401", "type": "external" } ], "mass": 98981.0, "length": 933, "protein_name": "Progesterone receptor", "gene_name": "PGR", "organism": "Human", "refseq_name": "progesterone receptor isoform B", "refseq_ac": [ { "id": "NP_000917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000917", "type": "external" } ], "gene_names_uniprotkb": "PGR; NR3C3", "gene_names_refseq": "NR3C3; PGR; PR", "protein_names_uniprotkb": "Progesterone receptor; Nuclear receptor subfamily 3 group C member 3; PR", "protein_names_refseq": "nuclear receptor subfamily 3 group C member 3; progesterone receptor isoform B", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); polycystic ovary syndrome (Disease Ontology:DOID:11612); leiomyoma (Disease Ontology:DOID:127); hyperprolactinemia (Disease Ontology:DOID:12700); endometriosis (Disease Ontology:DOID:289); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5241); (R-HSA-1251985); (R-HSA-3371497); (R-HSA-383280); (R-HSA-4090294); (R-HSA-9018519); (R-HSA-9927418); (R-HSA-9927426)", "pathway_count": 8, "publication_count": 310, "publication_id_list": "10235266;10500157;10542397;10628747;10655479;10747884;10757795;10828826;10873660;11010967;11034064;11041221;11103799;11110801;11121022;11136970;11165043;11237011;11323389;11345900;11410592;11452016;11546784;11581164;11589254;11679632;11682626;11701661;11751894;11865025;12010857;12039952;12077349;12144530;12177000;12498683;12529413;12612073;12644308;12781197;12807903;12917342;12943699;12959972;13486053;14500761;14631847;14675539;1493716;15001666;15023535;15159550;1517211;15175151;15192080;15192092;15276198;15282324;15343269;15345050;15381148;15514030;15534001;15572662;15591061;15718480;15798179;1587864;15896744;15923626;15937332;15961505;15986123;16009131;16046058;16061658;16087863;16113099;1630819;16403413;16478993;16751179;16912044;16912174;16980581;17013392;17018285;17018785;17020914;17105732;17173941;17218271;17277772;17314004;17347654;17463000;17495528;17510434;17591767;17592773;17637753;17666587;17690249;17717077;17804755;18088087;18187655;18202149;18215318;18219272;18243712;18254226;18256232;18322535;18358809;18375150;18476782;18533032;18635947;18653779;18762174;18805503;19001364;19020303;19041634;19047365;19098913;19211567;19274700;19295514;19321454;19359544;19383337;19596786;19692572;19706513;19718048;19850744;19864602;19955185;20006655;20038533;20072699;20159957;20219941;20220130;20498280;20570965;20682797;20719936;21106759;21138753;21151129;21158691;21183720;21376746;21445275;21467194;21573489;21700222;21796517;2181374;21835891;21878914;21934649;21940756;22011577;22031296;22056668;22093824;22265404;22266222;22318716;22433123;22492511;22545144;22593082;22704330;22791416;22930759;23145106;23172872;23186163;23192763;23230144;2328727;23303788;23380370;23403292;23435229;23518922;23546875;23723241;23906331;24012426;24167369;24308844;24371278;24694367;24735615;24829397;24853881;24854081;24885040;24973012;24998469;25114211;25228088;25296600;25365482;25433557;25542856;25633194;25663755;25674852;25728767;26056233;26073023;26153859;26203193;26204489;26313416;26462610;26479350;26960196;27062924;27462449;27663436;27852068;27886276;27920218;28083797;28301631;28412963;28539435;28755533;28919297;28929346;2919170;29237804;29393594;29557506;29632046;30197098;3045126;30524438;31110491;31141847;31731497;31826031;31848261;32016915;32157095;32320027;32387766;32429997;32448030;32544881;32563156;32686665;3281094;32982970;33449351;33841333;33916643;34168461;34171305;34509645;3498214;35051231;35494241;3551956;3677090;37346158;37478846;37786383;37890652;38263257;39395796;6645495;6891012;7476977;7559524;7935485;7937828;7969170;7983041;8157723;8180103;8195246;8197458;8264658;8282004;8419924;8560673;8702648;8876171;9171245;9201922;9338790;9388265;9407067;9464360;9464361;9611253;9620806;9653119;9667968;9671459;9731700", "class_list": "", "function": "Increases mitochondrial membrane potential and cellular respiration upon stimulation by progesterone., [UniProtKB]; Ligand-dependent transdominant repressor of steroid hormone receptor transcriptional activity including repression of its isoform B, MR and ER. Transrepressional activity may involve recruitment of corepressor NCOR2., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Malignancy risk factors and prognostic variables of pancreatic mucinous cystic neoplasms in Chinese patients., [RefSeq, PubMed]; Progesterone and cAMP synergistically induce SHP2 expression via PGR and CREB1 during uterine stromal decidualization., [RefSeq, PubMed]; Progesterone receptor distribution in the human hypothalamus and its association with suicide. Publication Status: Online-Only, [RefSeq, PubMed]; The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Depending on the isoform, progesterone receptor functions as a transcriptional activator or repressor., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding and non-protein coding. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015]., [RefSeq]; Transcriptional activator of several progesteron-dependent promoters in a variety of cell types. Involved in activation of SRC-dependent MAPK signaling on hormone stimulation., [UniProtKB, PubMed]; USP7 promotes decidualization of ESCs by STAT3/PR axis during early pregnancy., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A7LQ08;A7X8B0;B4E3T0;Q8TDS3;Q9UPF7", "ec_number_list": [], "go_molecular_function": "GO:0034056 estrogen response element binding;GO:0003677 DNA binding;GO:0005102 signaling receptor binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 32.3, "record_id": "P06401-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UP95-1", "uniprot_id": [ { "id": "S12A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UP95", "type": "external" } ], "mass": 120650.0, "length": 1085, "protein_name": "Solute carrier family 12 member 4", "gene_name": "SLC12A4", "organism": "Human", "refseq_name": "solute carrier family 12 member 4 isoform b", "refseq_ac": [ { "id": "NP_001139433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139433", "type": "external" } ], "gene_names_uniprotkb": "SLC12A4; KCC1", "gene_names_refseq": "CTC-479C5.17; KCC1; SLC12A4; hKCC1", "protein_names_uniprotkb": "Solute carrier family 12 member 4; Electroneutral potassium-chloride cotransporter 1; Erythroid K-Cl cotransporter 1; hKCC1", "protein_names_refseq": "electroneutral potassium-chloride cotransporter 1; erythroid K-Cl cotransporter 1; potassium/chloride cotransporter 1; solute carrier family 12 (potassium/chloride transporter), member 4; solute carrier family 12 (potassium/chloride transporters), member 4; solute carrier family 12 member 4 isoform b", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:6560); (R-HSA-426117)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10.1101/2023.09.13.557529;10347194;10564083;10600773;10913127;11237011;11551954;12106695;12368912;13785791;14976052;18452278;18578522;18669648;19415658;19651622;19664994;19690332;20058876;20068231;21406692;21613606;23186163;23481700;24275569;24366607;25576301;25645385;25880248;26992070;27397612;27846572;27920218;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29317506;29331515;29393594;29437277;29557506;29769354;29786170;29789417;30315122;31154438;31530632;31649201;31844290;31848261;32157095;32161166;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33392160;33592498;33912179;33968037;34031912;34185709;34357683;34433824;34725712;34932366;35051231;35154160;35580925;35759661;36010968;37074911;38665916;7629105;8528245;8640224;8663127;8812482;9516379", "class_list": "", "function": "Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:35759661). May contribute to cell volume homeostasis in single cells (PubMed:10913127, PubMed:34031912). May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; No transporter activity., [UniProtKB, PubMed]; Structure of the human cation-chloride cotransport KCC1 in an outward-open state., [RefSeq, PubMed]; The KCC1 gene promoter lacks a TATA box and is composed of an initiator element (InR) and a downstream promoter element (DPE), [RefSeq, PubMed]; This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DF69;B4DR04;B4DZ82;B7ZAV0;F5H066;F5H0S9;F5H3C0;O60632;O75893;Q13953;Q96LD5", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0015379 potassium:chloride symporter activity;GO:0120283 protein serine/threonine kinase binding;GO:0015377 chloride:monoatomic cation symporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0006884 cell volume homeostasis;GO:1902476 chloride transmembrane transport;GO:0055075 potassium ion homeostasis;GO:1990573 potassium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9UP95-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYK8-1", "uniprot_id": [ { "id": "REM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYK8", "type": "external" } ], "mass": 37139.0, "length": 340, "protein_name": "GTP-binding protein REM 2", "gene_name": "REM2", "organism": "Human", "refseq_name": "GTP-binding protein REM 2", "refseq_ac": [ { "id": "NP_775798", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775798", "type": "external" } ], "gene_names_uniprotkb": "REM2", "gene_names_refseq": "REM2", "protein_names_uniprotkb": "GTP-binding protein REM 2; Rad and Gem-like GTP-binding protein 2", "protein_names_refseq": "GTP-binding protein REM 2; RAS (RAD and GEM)-like GTP binding 2; RAS-like GTP binding 2; Rad and Gem-related 2 (rat homolog); rad and Gem-like GTP-binding protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:161253)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "15728182;18056257;20231315;21485012;23991227;29431731;30072381;34561969;35051231", "class_list": "", "function": "2 novel gene variants in REM2 and KCNK17 that provide a physiologically plausible explanation for variable expressivity in a large subset of patients in a multigenerational long QT syndrome type 2 family, [RefSeq, PubMed]; Binds GTP saturably and exhibits a low intrinsic rate of GTP hydrolysis., [UniProtKB, UniProtKB]; Conclude that endogenous Rem2 is a positive regulator of functional, excitatory synapse development and a negative regulator of dendritic complexity Publication Status: Online-Only, [RefSeq, PubMed]; Data unravel a possible molecular mechanism for Rem2-induced angiogenesis and suggests Rem2 as a potential novel target for treating pathological angiogenesis, [RefSeq, PubMed]; Inhibition of L-type Ca2+ channels by Rem2 signaling may represent a new and potentially important mechanism for regulating Ca2+-triggered exocytosis in hormone-secreting cells, including insulin secretion in pancreatic beta-cells, [RefSeq, PubMed]; Our results suggest that Rem2 regulates dendritic branching and synapse development, [RefSeq, PubMed]; Rem2 mediates the fibroblastic growth factor 2 (FGF2) signaling pathway to maintain proliferation of hESCsby suppressing the transcriptional activity of p53 and cyclin D(1), [RefSeq, PubMed]; Report that substitution of two key amino acid residues in the Rem2 N terminus (Arg-79 and Arg-80) completely abolishes its ability to inhibit CaMKII, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5P1;Q8N8R8", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0005246 calcium channel regulator activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8IYK8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92911-1", "uniprot_id": [ { "id": "SC5A5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92911", "type": "external" } ], "mass": 68666.0, "length": 643, "protein_name": "Sodium/iodide cotransporter", "gene_name": "SLC5A5", "organism": "Human", "refseq_name": "sodium/iodide cotransporter isoform 1", "refseq_ac": [ { "id": "NP_000444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000444", "type": "external" } ], "gene_names_uniprotkb": "SLC5A5; NIS", "gene_names_refseq": "NIS; SLC5A5; TDH1", "protein_names_uniprotkb": "Sodium/iodide cotransporter; Na(+)/I(-) cotransporter; Na(+)/I(-) symporter; Natrium iodide transporter; Sodium-iodide symporter; Solute carrier family 5 member 5", "protein_names_refseq": "Na(+)/I(-) cotransporter; Na(+)/I(-) symporter; natrium iodide transporter; sodium/iodide cotransporter isoform 1; solute carrier family 5 (sodium iodide symporter), member 5; solute carrier family 5 (sodium/iodide cotransporter), member 5", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); thyroid dyshormonogenesis 1 (Disease Ontology:DOID:0112185)", "pathway": " (hsa:6528); (R-HSA-209968); (R-HSA-5619096); (R-HSA-9958790)", "pathway_count": 4, "publication_count": 41, "publication_id_list": "10487695;11514595;12107270;12488351;15561711;15972824;16651268;16910871;1722671;17913707;18372236;18708479;19144650;20797386;23650190;27600516;28832583;29557506;29632711;31310151;32084174;32157095;32350084;32387766;32938616;33779310;34806438;34840979;35051231;35251023;35600585;35607818;36214955;67547;8806637;9171822;9329364;9388506;9486973;9712895;9745458", "class_list": "", "function": "Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism., [RefSeq, PubMed]; Downregulation of Rap1GAP Expression Activates the TGF-beta/Smad3 Pathway to Inhibit the Expression of Sodium/Iodine Transporter in Papillary Thyroid Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Seaweed and Iodine Intakes and SLC5A5 rs77277498 in Relation to Thyroid Cancer., [RefSeq, PubMed]; Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism. Publication Status: Online-Only, [RefSeq, PubMed]; Sodium:iodide symporter that mediates the transport of iodide into the thyroid gland (PubMed:12488351, PubMed:18372236, PubMed:18708479, PubMed:20797386, PubMed:31310151, PubMed:32084174, PubMed:8806637, PubMed:9329364). Can also mediate the transport of chlorate, thiocynate, nitrate and selenocynate (PubMed:12488351)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The effect of sodium iodide symporter protein on ablation success in patients with differentiated thyroid cancer., [RefSeq, PubMed]; This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 2, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O43702;Q2M335;Q9NYB6", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0015111 iodide transmembrane transporter activity;GO:0008507 sodium:iodide symporter activity;GO:0015373 monoatomic anion:sodium symporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0055085 transmembrane transport;GO:0071320 cellular response to cAMP;GO:1904322 cellular response to forskolin;GO:0015705 iodide transport;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q92911-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000110010001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C5K7-1", "uniprot_id": [ { "id": "CT62_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C5K7", "type": "external" } ], "mass": 15412.0, "length": 136, "protein_name": "Cancer/testis antigen 62", "gene_name": "CT62", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CT62", "gene_names_refseq": "", "protein_names_uniprotkb": "Cancer/testis antigen 62; CT62", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "15905330", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0C5K7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPU4-1", "uniprot_id": [ { "id": "CN132_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPU4", "type": "external" } ], "mass": 8830.0, "length": 83, "protein_name": "Uncharacterized protein C14orf132", "gene_name": "C14orf132", "organism": "Human", "refseq_name": "uncharacterized protein C14orf132 isoform b", "refseq_ac": [ { "id": "NP_001239436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239436", "type": "external" } ], "gene_names_uniprotkb": "C14orf132; C14orf88", "gene_names_refseq": "C14orf132; C14orf88", "protein_names_uniprotkb": "Uncharacterized protein C14orf132", "protein_names_refseq": "uncharacterized protein C14orf132 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:56967)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;32938616;34087483;36010968;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7K5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9NPU4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NA54-1", "uniprot_id": [ { "id": "IQUB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NA54", "type": "external" } ], "mass": 92581.0, "length": 791, "protein_name": "IQ motif and ubiquitin-like domain-containing protein", "gene_name": "IQUB", "organism": "Human", "refseq_name": "IQ motif and ubiquitin-like domain-containing protein", "refseq_ac": [ { "id": "NP_001269784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269784", "type": "external" } ], "gene_names_uniprotkb": "IQUB", "gene_names_refseq": "IQUB; TRS4", "protein_names_uniprotkb": "IQ motif and ubiquitin-like domain-containing protein", "protein_names_refseq": "IQ and ubiquitin-like domain-containing protein; IQ motif and ubiquitin-like domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:154865)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "16959974;20602751;29557506;29601588;29968965;32157095;33912179;33968037;35051231;36355624", "class_list": "", "function": "Adapter protein that anchors the radial spoke 1 (RS1) complex to the A microtubule of outer doublet microtubules in axonemes (PubMed:36355624). The triple radial spokes (RS1, RS2 and RS3) are required to modulate beating of the sperm flagellum (PubMed:36355624). May play a role in inhibiting signaling via MAPK1/ERK2 and MAPK3/ERK1 (PubMed:36355624). Additionally, may play a role in the functioning of cilia (By similarity). Not required for the functioning of tracheal or ependymal cilia (By similarity)., [UniProtKB, UniProtKB, PubMed]; IQUB deficiency causes male infertility by affecting the activity of p-ERK1/2/RSPH3., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; These results indicated that upregulated IQUB promoted breast cancer cell proliferation and migration via activating Akt/GSK3beta/beta-catenin signaling pathway, which played an important part in the tumorigenesis and development of breast cancer, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D0X0;Q49AL6;Q4G189;Q5BJD9;Q6NUH6;Q8N9Y2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001534 radial spoke;GO:0031514 motile cilium;GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum;GO:0097729 9+2 motile cilium", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly;GO:0007618 mating", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NA54-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T754-1", "uniprot_id": [ { "id": "LCE1F_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T754", "type": "external" } ], "mass": 11654.0, "length": 118, "protein_name": "Late cornified envelope protein 1F", "gene_name": "LCE1F", "organism": "Human", "refseq_name": "late cornified envelope protein 1F", "refseq_ac": [ { "id": "NP_848131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848131", "type": "external" } ], "gene_names_uniprotkb": "LCE1F; LEP6", "gene_names_refseq": "LCE1F; LEP6", "protein_names_uniprotkb": "Late cornified envelope protein 1F; Late envelope protein 6", "protein_names_refseq": "late cornified envelope protein 1F; late envelope protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:353137); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;15854049;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;29731959;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Paper describing nomenclature changes and expression in range of tissues and in response to UV, [RefSeq, PubMed]; Precursors of the cornified envelope of the stratum corneum., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q5T754-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TCM9-1", "uniprot_id": [ { "id": "LCE5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TCM9", "type": "external" } ], "mass": 11795.0, "length": 118, "protein_name": "Late cornified envelope protein 5A", "gene_name": "LCE5A", "organism": "Human", "refseq_name": "late cornified envelope protein 5A", "refseq_ac": [ { "id": "NP_848525", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848525", "type": "external" } ], "gene_names_uniprotkb": "LCE5A; LEP18; SPRL5A", "gene_names_refseq": "LCE5A; LEP18; SPRL5A", "protein_names_uniprotkb": "Late cornified envelope protein 5A; Late envelope protein 18; Small proline-rich-like epidermal differentiation complex protein 5A", "protein_names_refseq": "late cornified envelope protein 5A; late envelope protein 18; small proline rich-like (epidermal differentiation complex) 5A; small proline-rich-like epidermal differentiation complex protein 5A", "tax_id": 9606, "disease": "", "pathway": " (hsa:254910); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;15854049;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;19601998;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;36804407;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Paper describing nomenclature changes and expression in range of tissues and in response to UV, [RefSeq, PubMed]; Precursors of the cornified envelope of the stratum corneum., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q5TCM9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXQ5-1", "uniprot_id": [ { "id": "KLHL7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXQ5", "type": "external" } ], "mass": 65992.0, "length": 586, "protein_name": "Kelch-like protein 7", "gene_name": "KLHL7", "organism": "Human", "refseq_name": "kelch-like protein 7 isoform 1", "refseq_ac": [ { "id": "NP_001026880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026880", "type": "external" } ], "gene_names_uniprotkb": "KLHL7", "gene_names_refseq": "CISS3; KLHL6; KLHL7; PERCHING; SBBI26", "protein_names_uniprotkb": "Kelch-like protein 7", "protein_names_refseq": "kelch-like 6; kelch-like 7; kelch-like protein 7 isoform 1; kelch-like protein 7; kelch/BTB", "tax_id": 9606, "disease": "cold-induced sweating syndrome 3 (Disease Ontology:DOID:0080331); retinitis pigmentosa 42 (Disease Ontology:DOID:0110386)", "pathway": " (hsa:55975)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11230166;11237011;16918702;19520207;20547956;21828050;22084217;23481700;24397554;24715725;25645385;26811146;26992070;27392078;27846572;28228285;28904123;29275860;29493099;29557506;29786170;30379171;30429286;30833945;31217245;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33691108;33912179;33968037;34087483;34171305;34509645;34932366;35051231;35561310;35580925;35699517;36010968;36284347;40596516", "class_list": "", "function": "Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey., [RefSeq, PubMed]; KLHL7 forms a dimer, assembles with Cul3 through its BTB and BACK domains, and exerts E3 activity., [RefSeq, PubMed]; Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa., [RefSeq, PubMed]; Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa., [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination., [UniProtKB, PubMed]; The present results indicate that KLHL7 antibodies are associated with various cancers, and in some patients also with neurological disease. Whether KLHL7 antibodies can be used as paraneoplastic markers for PNS remains to be determined., [RefSeq, PubMed]; This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D144;B7Z5I9;G5E9G3;Q7Z765;Q96MV2;Q9BQF8;Q9UDQ9", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q8IXQ5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T7P2-1", "uniprot_id": [ { "id": "LCE1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T7P2", "type": "external" } ], "mass": 10982.0, "length": 110, "protein_name": "Late cornified envelope protein 1A", "gene_name": "LCE1A", "organism": "Human", "refseq_name": "late cornified envelope protein 1A", "refseq_ac": [ { "id": "NP_848125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848125", "type": "external" } ], "gene_names_uniprotkb": "LCE1A; LEP1", "gene_names_refseq": "LCE1A; LEP1", "protein_names_uniprotkb": "Late cornified envelope protein 1A; Late envelope protein 1", "protein_names_refseq": "late cornified envelope protein 1A; late envelope protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:353131); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;15854049;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;36804407;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "A paper relating nomenclature changes and expression in range of tissues and in response to UV, [RefSeq, PubMed]; LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM, Feb 2009]., [RefSeq]; Precursors of the cornified envelope of the stratum corneum., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q5T7P2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14854-1", "uniprot_id": [ { "id": "CX6B1_HUMAN", "url": "https://www.uniprot.org/uniprot/P14854", "type": "external" } ], "mass": 10192.0, "length": 86, "protein_name": "Cytochrome c oxidase subunit 6B1", "gene_name": "COX6B1", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 6B1", "refseq_ac": [ { "id": "NP_001854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001854", "type": "external" } ], "gene_names_uniprotkb": "COX6B1; COX6B", "gene_names_refseq": "COX6B1; COX6B; COXG; COXVIb1; MC4DN7", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 6B1; COX VIb-1; Cytochrome c oxidase subunit VIb isoform 1", "protein_names_refseq": "COX VIb-1; cytochrome c oxidase subunit 6B1; cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)", "tax_id": 9606, "disease": "familial partial lipodystrophy (Disease Ontology:DOID:0050440); mitochondrial complex IV deficiency nuclear type 7 (Disease Ontology:DOID:0070494); alcohol-associated liver disease (Disease Ontology:DOID:0070658); congenital generalized lipodystrophy type 3 (Disease Ontology:DOID:0111137); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); sciatic neuropathy (Disease Ontology:DOID:11446); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); acoustic neuroma (Disease Ontology:DOID:12689); leiomyoma (Disease Ontology:DOID:127); primary pulmonary hypertension (Disease Ontology:DOID:14557); hypothyroidism (Disease Ontology:DOID:1459); limited scleroderma (Disease Ontology:DOID:1577); diffuse scleroderma (Disease Ontology:DOID:1580); breast cancer (Disease Ontology:DOID:1612); melanoma (Disease Ontology:DOID:1909); atherosclerosis (Disease Ontology:DOID:1936); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); transitional cell carcinoma (Disease Ontology:DOID:2671); high grade glioma (Disease Ontology:DOID:3070); breast carcinoma (Disease Ontology:DOID:3459); ovarian carcinoma (Disease Ontology:DOID:4001); systemic scleroderma (Disease Ontology:DOID:418); renal cell carcinoma (Disease Ontology:DOID:4450); pulmonary hypertension (Disease Ontology:DOID:6432); osteoarthritis (Disease Ontology:DOID:8398); psoriasis (Disease Ontology:DOID:8893); mitochondrial encephalomyopathy (Disease Ontology:DOID:890); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1340); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 200, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11237011;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;1647217;1651883;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;18499082;186667;18692468;18991276;19113821;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20929863;2172092;21750704;21872626;21958598;21993680;22342701;22363791;22427940;22645359;23125284;23150584;23260140;23270816;23345593;23481700;23564345;23746447;23747254;23775793;239860;24066844;24366607;24366874;24383451;24403053;24714562;24715725;24718924;24781756;2537962;25418920;25564869;25576301;25579166;25645385;25880248;25926683;25959673;26024233;26321642;26375851;26577226;26652033;26728094;26992070;27693358;27846572;27862975;27920218;28063628;28082314;28199844;28218747;28228285;28330871;28446606;28510447;28649982;28698372;28832583;28834231;28844695;28871256;28904123;29154948;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29605689;29632046;29786170;30030519;30315122;30410026;30429286;30444036;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31536960;31844290;31848261;31998317;32157095;32161166;32265295;32317297;32350084;32357974;32375044;32387766;32502341;32897882;32938616;32983136;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34087483;34171305;3427020;34357683;34561969;3475708;34969438;35051231;35318648;35561310;35580925;35750769;36010968;36241641;36284347;36581221;4288886;5666113;6094553;7979252;7989588;8119488;9843204;9878551;9926927", "class_list": "", "function": "Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix., [UniProtKB, UniProtKB]; Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]., [RefSeq]; P2 peptide from HIV-1 enhances HIV-1 acute infection by increasing intracellular ATP production via the activation of mitochondrial cytochrome c oxidase (MT-CO) involved in the respiratory chain Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 34, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5C9;Q6IBL4", "ec_number_list": [], "go_molecular_function": "GO:0004129 cytochrome-c oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0021762 substantia nigra development;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "P14854-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK08-1", "uniprot_id": [ { "id": "GBG8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK08", "type": "external" } ], "mass": 7841.0, "length": 70, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8", "gene_name": "GNG8", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8", "refseq_ac": [ { "id": "NP_150283", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150283", "type": "external" } ], "gene_names_uniprotkb": "GNG8; GNG9; GNGT9", "gene_names_refseq": "GNG8; HG3E", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8; Gamma-9", "protein_names_refseq": "gamma-9; guanine nucleotide binding protein (G protein), gamma 8; guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8; heterotrimeric guanine nucleotide-binding protein 3E", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:94235); (R-HSA-1296041); (R-HSA-163359); (R-HSA-202040); (R-HSA-381676); (R-HSA-392170); (R-HSA-392451); (R-HSA-392851); (R-HSA-400042); (R-HSA-4086398); (R-HSA-416476); (R-HSA-416482); (R-HSA-418217); (R-HSA-418555); (R-HSA-418592); (R-HSA-418594); (R-HSA-418597); (R-HSA-420092); (R-HSA-428930); (R-HSA-432040); (R-HSA-456926); (R-HSA-500657); (R-HSA-6814122); (R-HSA-8964315); (R-HSA-8964616); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9856530); (R-HSA-997272)", "pathway_count": 30, "publication_count": 455, "publication_id_list": 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"class_list": "", "function": "Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4VBM5", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding;GO:0003924 GTPase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005834 heterotrimeric G-protein complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 45.6, "record_id": "Q9UK08-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27987-1", "uniprot_id": [ { "id": "IP3KB_HUMAN", "url": "https://www.uniprot.org/uniprot/P27987", "type": "external" } ], "mass": 102376.0, "length": 946, "protein_name": "Inositol-trisphosphate 3-kinase B", "gene_name": "ITPKB", "organism": "Human", "refseq_name": "inositol-trisphosphate 3-kinase B isoform 1", "refseq_ac": [ { "id": "NP_002212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002212", "type": "external" } ], "gene_names_uniprotkb": "ITPKB", "gene_names_refseq": "IP3-3KB; IP3K-B; IP3KB; IP3K; ITPKB; PIG37", "protein_names_uniprotkb": "Inositol-trisphosphate 3-kinase B; 2.7.1.127; IP3 3-kinase B; IP3K B; Inositol 1,4,5-trisphosphate 3-kinase B; InsP 3-kinase B", "protein_names_refseq": "IP3 3-kinase B; IP3K B; inositol 1,4,5-trisphosphate 3-kinase B; inositol-trisphosphate 3-kinase B isoform 1; insP 3-kinase B; proliferation-inducing protein 37", "tax_id": 9606, "disease": "", "pathway": " (hsa:3707); (R-HSA-1855204)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10593988;10866302;11022047;11022048;11042108;11118617;11846419;11909533;12223481;12747803;1333955;15037625;15140260;15316017;15474001;15579586;15702972;15790568;16107206;1644792;1654894;1718960;18088087;18669648;19179337;19690332;23060452;24714562;2550068;25576301;25645385;26154972;26728094;26992070;27600516;27846572;27862975;2841328;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30429286;31154438;31844290;31848261;32157095;32357974;32387766;32488085;33141586;33298915;33592498;33633747;33717175;33968037;34087483;34171305;34211107;34244037;34509645;34932366;35039634;35051231;35494241;35561310;35580925;36010968;36768321;37108169;38438346;7721860;7761412;7890667;8407970;8454637;8530101;8662638;8723348;8769125;9360711;9430698;9593664", "class_list": "", "function": "Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan., [RefSeq, PubMed]; Catalyzes the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis., [UniProtKB, PubMed, PubMed, PubMed]; Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk. Publication Status: Online-Only, [RefSeq, PubMed]; Increased Levels of the Parkinson's Disease-Associated Gene ITPKB Correlate with Higher Expression Levels of alpha-Synuclein, Independent of Mutation Status. Publication Status: Online-Only, [RefSeq, PubMed]; Suppression of ITPKB degradation by Trim25 confers TMZ resistance in glioblastoma through ROS homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5VWL9;Q5VWM0;Q96BZ2;Q96JS1;Q9UH47", "ec_number_list": [ { "id": "2.7.1.127", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.127", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" } ], "go_molecular_function": "GO:0000828 inositol hexakisphosphate kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0008440 inositol-1,4,5-trisphosphate 3-kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0007165 signal transduction;GO:0071277 cellular response to calcium ion;GO:0046854 phosphatidylinositol phosphate biosynthetic process;GO:0032957 inositol trisphosphate metabolic process;GO:0032958 inositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P27987-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T752-1", "uniprot_id": [ { "id": "LCE1D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T752", "type": "external" } ], "mass": 11230.0, "length": 114, "protein_name": "Late cornified envelope protein 1D", "gene_name": "LCE1D", "organism": "Human", "refseq_name": "late cornified envelope protein 1D", "refseq_ac": [ { "id": "NP_848129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848129", "type": "external" } ], "gene_names_uniprotkb": "LCE1D; LEP4", "gene_names_refseq": "LCE1D; LEP4", "protein_names_uniprotkb": "Late cornified envelope protein 1D; Late envelope protein 4", "protein_names_refseq": "late cornified envelope protein 1D; late envelope protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:353134); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;15854049;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;36804407;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Paper describing nomenclature changes and expression in range of tissues and in response to UV, [RefSeq, PubMed]; Precursors of the cornified envelope of the stratum corneum., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization;GO:0050890 cognition;GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q5T752-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00180-1", "uniprot_id": [ { "id": "KCNK1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00180", "type": "external" } ], "mass": 38143.0, "length": 336, "protein_name": "Potassium channel subfamily K member 1", "gene_name": "KCNK1", "organism": "Human", "refseq_name": "potassium channel subfamily K member 1", "refseq_ac": [ { "id": "NP_002236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236", "type": "external" } ], "gene_names_uniprotkb": "KCNK1; HOHO1; KCNO1; TWIK1", "gene_names_refseq": "DPK; HOHO; K2P1; K2p1.1; KCNK1; KCNO1; TWIK-1; TWIK1", "protein_names_uniprotkb": "Potassium channel subfamily K member 1; Inward rectifying potassium channel protein TWIK-1; Potassium channel K2P1; Potassium channel KCNO1", "protein_names_refseq": "inward rectifying potassium channel protein TWIK-1; potassium channel K2P1; potassium channel KCNO1; potassium channel subfamily K member 1; potassium channel, two pore domain subfamily K, member 1; potassium inwardly-rectifying channel, subfamily K, member 1; tandem of P domains in a weak inward rectifying K+ channel 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3775); (R-HSA-1299308); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 40, "publication_id_list": "11165377;11237011;15795311;15820677;16382106;17478540;17652773;17693262;19959478;20393194;20498050;21653227;21964404;22282804;22424782;22431633;23169818;25001086;25339226;25530075;28904123;29242379;29393594;29557506;29769354;31154438;32161166;32357974;33298915;33968037;34433824;36215666;36566598;38689322;38905316;39012638;8605869;8978667;9362344;9462864", "class_list": "", "function": "Evidence for an Association Between a pH-Dependent Potassium Channel, TWIK-1, and the Accuracy of Smooth Pursuit Eye Movements., [RefSeq, PubMed]; Identification of KCNK1 as a potential prognostic biomarker and therapeutic target of breast cancer., [RefSeq, PubMed]; Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues (PubMed:15820677, PubMed:21653227). Forms dimeric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel is selective for K(+) ions at physiological potassium concentrations and at neutral pH, but becomes permeable to Na(+) at subphysiological K(+) levels and upon acidification of the extracellular medium (PubMed:21653227, PubMed:22431633). The homodimer has very low potassium channel activity, when expressed in heterologous systems, and can function as weakly inward rectifying potassium channel (PubMed:15820677, PubMed:21653227, PubMed:22431633, PubMed:23169818, PubMed:25001086, PubMed:8605869, PubMed:8978667). Channel activity is modulated by activation of serotonin receptors (By similarity). Heterodimeric channels containing KCNK1 and KCNK2 have much higher activity, and may represent the predominant form in astrocytes (By similarity). Heterodimeric channels containing KCNK1 and KCNK3 or KCNK9 have much higher activity (PubMed:23169818). Heterodimeric channels formed by KCNK1 and KCNK9 may contribute to halothane-sensitive currents (PubMed:23169818). Mediates outward rectifying potassium currents in dentate gyrus granule cells and contributes to the regulation of their resting membrane potential (By similarity). Contributes to the regulation of action potential firing in dentate gyrus granule cells and down-regulates their intrinsic excitability (By similarity). In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G protein-coupled receptors, such as F2R and CNR1 (By similarity). Required for normal ion and water transport in the kidney (By similarity). Contributes to the regulation of the resting membrane potential of pancreatic beta cells (By similarity). The low channel activity of homodimeric KCNK1 may be due to sumoylation (PubMed:15820677, PubMed:20498050, PubMed:23169818). The low channel activity may be due to rapid internalization from the cell membrane and retention in recycling endosomes (PubMed:19959478). Permeable to monovalent cations with ion selectivity for K(+) > Rb(+) >> NH4(+) >> Cs(+) = Na(+) = Li(+)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; KCNK1 promotes proliferation and metastasis of breast cancer cells by activating lactate dehydrogenase A (LDHA) and up-regulating H3K18 lactylation. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpressed KCNK1 regulates potassium channels affecting molecular mechanisms and biological pathways in bladder cancer. Erratum:[Eur J Med Res. 2024 Jun 20;29(1):342. doi: 10.1186/s40001-024-01905-5. PMID: 38902786] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 27, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q13307;Q5T5E8", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0022841 potassium ion leak channel activity;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0005267 potassium channel activity;GO:0005272 sodium channel activity", "go_cellular_component": "GO:1902937 inward rectifier potassium channel complex;GO:0034705 potassium channel complex;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "GO:0035094 response to nicotine;GO:0006813 potassium ion transport;GO:1902476 chloride transmembrane transport;GO:0035725 sodium ion transmembrane transport;GO:0014047 glutamate secretion", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "O00180-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43246-1", "uniprot_id": [ { "id": "CTR4_HUMAN", "url": "https://www.uniprot.org/uniprot/O43246", "type": "external" } ], "mass": 68268.0, "length": 635, "protein_name": "Cationic amino acid transporter 4", "gene_name": "SLC7A4", "organism": "Human", "refseq_name": "cationic amino acid transporter 4", "refseq_ac": [ { "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164", "type": "external" } ], "gene_names_uniprotkb": "SLC7A4", "gene_names_refseq": "CAT-4; CAT4; HCAT3; SLC7A4; VH", "protein_names_uniprotkb": "Cationic amino acid transporter 4; CAT-4; CAT4; Solute carrier family 7 member 4", "protein_names_refseq": "Ig heavy chain variable region; VH 3 family; cationic amino acid transporter 4; solute carrier family 7 (cationic amino acid transporter, y+ system), member 4; solute carrier family 7 (orphan transporter), member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:6545)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;11665818;17051526;18460403;18477386;20452607;20584552;20685009;29557506;30484775;35051231;35494241;9598310", "class_list": "", "function": "Analysis of the genomic organization, [RefSeq, PubMed]; Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Involved in the transport of the cationic amino acids (arginine, lysine and ornithine)., [UniProtKB]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; These results suggest a heterogeneous immunophenotype and genotype for c-myc/Ig DLBCL, with CD10(-)/BCL6(+)/MUM1(-) cases the most frequent., [RefSeq, PubMed]; ZAP-70 reactivity using a T-cell marker as a control allows to identify the majority of patients with an unmutated Ig VH genotype., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q0P5U2;Q3KNQ6;Q4VC45;Q6IBY8;Q96H88", "ec_number_list": [], "go_molecular_function": "GO:0015171 amino acid transmembrane transporter activity;GO:0015174 basic amino acid transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O43246-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYR0-1", "uniprot_id": [ { "id": "KRA47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYR0", "type": "external" } ], "mass": 16681.0, "length": 155, "protein_name": "Keratin-associated protein 4-7", "gene_name": "KRTAP4-7", "organism": "Human", "refseq_name": "putative keratin-associated protein 4-X", "refseq_ac": [ { "id": "NP_149050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149050", "type": "external" } ], "gene_names_uniprotkb": "KRTAP4-7; KAP4.7; KRTAP4.7", "gene_names_refseq": "KAP4.7; KRTAP4-7; KRTAP4.7", "protein_names_uniprotkb": "Keratin-associated protein 4-7; Keratin-associated protein 4.7; Ultrahigh sulfur keratin-associated protein 4.7", "protein_names_refseq": "Ultrahigh sulfur keratin-associated protein 4.7; putative keratin-associated protein 4-X", "tax_id": 9606, "disease": "", "pathway": " (hsa:100132476); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "11279113;15373777;15955084;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVM6;A8MQ08;A8MTL4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "GO:0042633 hair cycle", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BYR0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TA77-1", "uniprot_id": [ { "id": "LCE3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TA77", "type": "external" } ], "mass": 9812.0, "length": 95, "protein_name": "Late cornified envelope protein 3B", "gene_name": "LCE3B", "organism": "Human", "refseq_name": "late cornified envelope protein 3B", "refseq_ac": [ { "id": "NP_848520", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848520", "type": "external" } ], "gene_names_uniprotkb": "LCE3B; LEP14", "gene_names_refseq": "LCE3B; LEP14", "protein_names_uniprotkb": "Late cornified envelope protein 3B; Late envelope protein 14", "protein_names_refseq": "late cornified envelope protein 3B; late envelope protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:353143); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;15854049;16061697;16639001;17515931;17562024;17596512;18843291;19169253;19190773;19194479;20016497;20179351;20213803;20657595;20667819;20940292;21439340;21654840;21997417;23629652;24566688;25926655;26390218;27048876;28634035;34942199;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens (PubMed:28634035)., [UniProtKB, PubMed]; Analysis of disease variants at the LCE3 cluster among the psoriasis patients in India Publication Status: Online-Only, [RefSeq, PubMed]; Antimicrobial Late Cornified Envelope Proteins: The Psoriasis Risk Factor Deletion of LCE3B/C Genes Affects Microbiota Composition., [RefSeq, PubMed]; LCE3C_LCE3B-del shows epistatic effects with the HLA-Cw6 allele on the development of psoriasis. GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Our data suggest that The LCE deletion, previously identified in patients with psoriasis, is not of a major importance in the development of PsA in Tunisian patients, [RefSeq, PubMed]; Paper describing nomenclature changes and expression in range of tissues and in response to UV, [RefSeq, PubMed]; Study confirms the recently published finding that the deletion of the two LCE genes is a susceptibility factor for psoriasis vulgaris with dosage effect GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; We have verified a pleiotropic effect of a common genetic risk factor (LCE3C_LCE3B-del) for autoimmune diseases that is involved in both psoriasis and rheumatoid arthritis GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0031424 keratinization;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0031640 killing of cells of another organism", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q5TA77-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6L8H2-1", "uniprot_id": [ { "id": "KRA53_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6L8H2", "type": "external" } ], "mass": 22106.0, "length": 238, "protein_name": "Keratin-associated protein 5-3", "gene_name": "KRTAP5-3", "organism": "Human", "refseq_name": "keratin-associated protein 5-3", "refseq_ac": [ { "id": "NP_001012726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012726", "type": "external" } ], "gene_names_uniprotkb": "KRTAP5-3; KAP5-9; KAP5.3; KRTAP5-9; KRTAP5.3; KRTAP5.9", "gene_names_refseq": "KRTAP5-3; KRTAP5-9; KRTAP5.3", "protein_names_uniprotkb": "Keratin-associated protein 5-3; Keratin-associated protein 5-9; Keratin-associated protein 5.3; Keratin-associated protein 5.9; UHS KerB-like; Ultrahigh sulfur keratin-associated protein 5.3", "protein_names_refseq": "keratin-associated protein 5-3; keratin-associated protein 5-9; keratin-associated protein 5.3; keratin-associated protein 5.9; ultrahigh sulfur keratin-associated protein 5.3", "tax_id": 9606, "disease": "", "pathway": " (hsa:387266); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "15144888;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;35051231;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PL44;Q701N3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6L8H2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99735-1", "uniprot_id": [ { "id": "MGST2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99735", "type": "external" } ], "mass": 16621.0, "length": 147, "protein_name": "Microsomal glutathione S-transferase 2", "gene_name": "MGST2", "organism": "Human", "refseq_name": "microsomal glutathione S-transferase 2 isoform 1", "refseq_ac": [ { "id": "NP_001191295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191295", "type": "external" } ], "gene_names_uniprotkb": "MGST2; GST2", "gene_names_refseq": "GST2; MGST-II; MGST2", "protein_names_uniprotkb": "Microsomal glutathione S-transferase 2; 1.11.1.-; 2.5.1.18; 4.4.1.20; Glutathione peroxidase MGST2; Leukotriene C4 synthase MGST2; Microsomal GST-2; Microsomal GST-II; Microsomal glutathione S-transferase II", "protein_names_refseq": "glutathione peroxidase MGST2; leukotriene C4 synthase MGST2; microsomal GST-2; microsomal GST-II; microsomal glutathione S-transferase 2 isoform 1; microsomal glutathione S-transferase II", "tax_id": 9606, "disease": "", "pathway": " (hsa:4258); (R-HSA-156590); (R-HSA-5423646)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10329152;10587441;10783391;11322876;11327815;11409944;11904223;12042665;12144777;12211029;12627223;12727802;12933810;14742434;1504254;16081649;16150497;16298388;16385575;1643250;16548513;16970545;18357469;18416522;19463;20083122;20085333;21106529;21668448;22522127;23162467;23409838;2573352;25892735;26066610;26656251;29393594;29557506;29769354;29786170;31848261;32325220;32387766;33717175;3372534;33741927;34357683;3770744;3931076;4768551;7764673;7766804;8182750;8203914;8331657;8431482;8439558;8703034;8812420;8975785;9278457;9551553;9576847;9839448", "class_list": "", "function": "Catalyzes several different glutathione-dependent reactions (PubMed:23409838, PubMed:26066610, PubMed:26656251, PubMed:8703034, PubMed:9278457). Catalyzes the glutathione-dependent reduction of lipid hydroperoxides, such as 5-HPETE (PubMed:23409838, PubMed:9278457). Has glutathione transferase activity, toward xenobiotic electrophiles, such as 1-chloro-2, 4-dinitrobenzene (CDNB) (PubMed:23409838, PubMed:8703034). Also catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4 (LTC4) (PubMed:23409838, PubMed:26656251). Involved in oxidative DNA damage induced by ER stress and anticancer agents by activating LTC4 biosynthetic machinery in nonimmune cells (PubMed:26656251)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Characterized the substrate specificity and catalytic properties of purified MGST2 by steady-state and pre-steady-state kinetic experiments, [RefSeq, PubMed]; Crystal structures of human MGST2 reveal synchronized conformational changes regulating catalysis. Publication Status: Online-Only, [RefSeq, PubMed]; The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; Trimeric microsomal protein MGST2 displays one third of the sites reactivity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6RBB5;Q7Z5B8", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" }, { "id": "2.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.-", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.12", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0043295 glutathione binding;GO:0004464 leukotriene-C4 synthase activity;GO:0008047 enzyme activator activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043231 intracellular membrane-bounded organelle", "go_biological_process": "GO:0006750 glutathione biosynthetic process;GO:0006629 lipid metabolic process;GO:0032496 response to lipopolysaccharide;GO:0050729 positive regulation of inflammatory response;GO:0019370 leukotriene biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q99735-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EK4-1", "uniprot_id": [ { "id": "THA11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EK4", "type": "external" } ], "mass": 34455.0, "length": 314, "protein_name": "THAP domain-containing protein 11", "gene_name": "THAP11", "organism": "Human", "refseq_name": "THAP domain-containing protein 11", "refseq_ac": [ { "id": "NP_065190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065190", "type": "external" } ], "gene_names_uniprotkb": "THAP11; HRIHFB2206", "gene_names_refseq": "CTG-B43a; CTG-B45d; HRIHFB2206; MAHCL; RONIN; SCA51; THAP11", "protein_names_uniprotkb": "THAP domain-containing protein 11", "protein_names_refseq": "THAP domain-containing protein 11", "tax_id": 9606, "disease": "methylmalonic aciduria and homocystinuria type cblC (Disease Ontology:DOID:0050715); methylmalonic aciduria and homocystinuria, cb1L type (MONDO:MONDO:0975798); spinocerebellar ataxia 51 (MONDO:MONDO:0975800)", "pathway": " (hsa:57215)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "15368101;18585351;20068231;23306615;25418920;25576301;26154972;26416877;26992070;27600516;27846572;27920218;28449119;28832583;28904123;29242379;29351928;29393594;29493099;29557506;30429286;31217245;31530632;31844290;31848261;31905202;31998317;32161166;32357974;32387766;32938616;32983136;33298915;33968037;34019948;34087483;34405274;34509645;35580925;36010968;37148549;37938771;38113319;38361031;38602237;38757579;40596516;9853615", "class_list": "", "function": "CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia., [RefSeq, PubMed]; CircNRD1 elevates THAP domain containing 11 through sequestering microRNA-421 to inhibit gastric cancer growth and tumorigenesis., [RefSeq, PubMed]; Exploring THAP11 Repeat Expansion beyond Chinese-Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank Data., [RefSeq, PubMed]; THAP11 CAG Repeat Expansion Is Rare or Absent in the Taiwanese Cohort with Cerebellar Ataxia., [RefSeq, PubMed]; The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor, which has both transcriptional activation and repression activities (PubMed:31905202). Also modulates chromatin accessibility (PubMed:38361031). In complex with HCFC1 and ZNF143, regulates the expression of several genes, including AP2S1, ESCO2, OPHN1, RBL1, UBXN8 and ZNF32 (PubMed:26416877). May regulate the expression of genes that encode both cytoplasmic and mitochondrial ribosomal proteins (By similarity). Required for normal mitochondrial development and function. Regulates mitochondrial gene expression, including that of components of the electron transport chain (By similarity). Involved in the maintainance of pluripotency in early embryonic cells, possibly through its action on mitochondrial maturation which is required to meet high energy demands of these cells (By similarity). Required for early development of retina, preventing premature exit of retinal progenitor cells from the cell cycle. This effect may also be mediated by its action on mitochondria (By similarity). Through the regulation of MMACHC gene expression, controls cobalamin metabolism (PubMed:28449119, PubMed:31905202). Required for normal brain development and neural precursor differentiation (By similarity). Involved in cell growth (PubMed:31905202)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4UCT5;A8K002;O94795", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q96EK4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T753-1", "uniprot_id": [ { "id": "LCE1E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T753", "type": "external" } ], "mass": 11616.0, "length": 118, "protein_name": "Late cornified envelope protein 1E", "gene_name": "LCE1E", "organism": "Human", "refseq_name": "late cornified envelope protein 1E", "refseq_ac": [ { "id": "NP_848130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848130", "type": "external" } ], "gene_names_uniprotkb": "LCE1E; LEP5", "gene_names_refseq": "LCE1E; LEP5", "protein_names_uniprotkb": "Late cornified envelope protein 1E; Late envelope protein 5", "protein_names_refseq": "late cornified envelope protein 1E; late envelope protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:353135); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;15854049;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;36804407;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Paper describing nomenclature changes and expression in range of tissues and in response to UV, [RefSeq, PubMed]; Precursors of the cornified envelope of the stratum corneum., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DV30", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q5T753-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75475-1", "uniprot_id": [ { "id": "PSIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75475", "type": "external" } ], "mass": 60103.0, "length": 530, "protein_name": "PC4 and SFRS1-interacting protein", "gene_name": "PSIP1", "organism": "Human", "refseq_name": "PC4 and SFRS1-interacting protein isoform 2", "refseq_ac": [ { "id": "NP_001121689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121689", "type": "external" } ], "gene_names_uniprotkb": "PSIP1; DFS70; LEDGF; PSIP2", "gene_names_refseq": "DFS70; LEDGF; PAIP; PSIP1; PSIP2; p52; p75", "protein_names_uniprotkb": "PC4 and SFRS1-interacting protein; CLL-associated antigen KW-7; DFS 70; Dense fine speckles 70 kDa protein; Lens epithelium-derived growth factor; Transcriptional coactivator p75/p52", "protein_names_refseq": "CLL-associated antigen KW-7; PC4 and SFRS1 interacting protein 1; PC4 and SFRS1-interacting protein isoform 2; PC4 and SFRS1-interacting protein; dense fine speckles 70 kDa protein; lens epithelium-derived growth factor; transcriptional coactivator p52/p75", "tax_id": 9606, "disease": "", "pathway": " (hsa:11168); (R-HSA-162592); (R-HSA-164843); (R-HSA-175567); (R-HSA-177539); (R-HSA-180689); (R-HSA-180910); (R-HSA-9772755)", "pathway_count": 8, "publication_count": 199, "publication_id_list": "10623627;10721720;10856157;11237011;12200376;12228227;12393701;12482972;12670868;12808465;14636557;14992727;15098018;15199122;15302935;15475359;15479846;15501393;15642333;15725483;15731250;15749713;15797927;15895093;16083285;16175173;16227571;16239140;16260736;16291214;16829959;16878130;16892064;16964243;17081983;17287340;17355966;17500065;17525332;17612494;17671196;17925232;17998332;18212344;18318008;18452278;18598942;18669648;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19244240;19367720;19413330;19415658;19556245;19651622;19664995;19690332;19864417;20018852;20068230;20068231;20166139;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;21406692;2171144;22266653;22327296;22652693;22665483;23186163;23301498;23481700;23508102;23995757;24244196;24275569;24366607;24368734;24680668;24714562;24715725;25082813;25305204;2539592;25561738;25576301;25593305;25802875;25810538;25880248;26154972;26324722;26375851;26728094;26768311;26886794;26992070;27397612;27563068;27600516;27698142;27760318;27846572;27862975;27920218;28063628;28182322;28218747;28228285;28398509;28510447;28832583;28834231;29138278;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29897600;29937342;29997176;3032450;30429286;31154438;31217245;31400120;31485071;31530632;31544921;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33657400;33717175;33912179;33936100;33968037;33981976;34012049;34019948;34070855;34211107;34225636;34509645;34561969;34634812;34685704;34932366;34933446;35033534;35051231;35190547;35439434;35580925;36010968;37217939;37938771;38191578;38665916;40596516;40914422;7231784;8883604;9038339;9188609;9436978;9582382;9822615;9860958;9885563", "class_list": "", "function": "LEDGF/p75 Is Required for an Efficient DNA Damage Response. Publication Status: Online-Only, [RefSeq, PubMed]; Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75., [RefSeq, PubMed]; PSIP1/LEDGF reduces R-loops at transcription sites to maintain genome integrity. Erratum:[Nat Commun. 2024 Jun 7;15(1):4865. doi: 10.1038/s41467-024-49334-6. PMID: 38849416] Publication Status: Online-Only, [RefSeq, PubMed]; PSIP1/p52 is expressed from the same gene as PSIP2/LEDGF/p75 due to alternative splicing of the pre-mRNA. It has transcription co-activator activity in vitro and can functionally interact with the ASF/SF2 splicing factor in vitro., [RefSeq, PubMed]; PSIP2/LEDGF/p75 co-purifies with transcription coactivator PC4 from HeLa cell extract. PSIP2 and PSIP1 interact with VP16 activation domain and several components of the general transcription machinery in vitro., [RefSeq, PubMed]; The LEDGF/p75 Integrase Binding Domain Interactome Contributes to the Survival, Clonogenicity, and Tumorsphere Formation of Docetaxel-Resistant Prostate Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The LncRNA MIR155HG is Upregulated by SP1 in Melanoma Cells and Drives Melanoma Progression via Modulating the MiR-485-3p/PSIP1 Axis., [RefSeq, PubMed]; Transcriptional coactivator involved in neuroepithelial stem cell differentiation and neurogenesis. Involved in particular in lens epithelial cell gene regulation and stress responses. May play an important role in lens epithelial to fiber cell terminal differentiation. May play a protective role during stress-induced apoptosis. Isoform 2 is a more general and stronger transcriptional coactivator. Isoform 2 may also act as an adapter to coordinate pre-mRNA splicing. Cellular cofactor for lentiviral integration., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 35, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DRI9;O00256;O95368;Q6P391;Q86YB9;Q9NZI3;Q9UER6", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0097100 supercoiled DNA binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000791 euchromatin;GO:0034399 nuclear periphery", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006979 response to oxidative stress;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0009408 response to heat", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "O75475-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60896-1", "uniprot_id": [ { "id": "RAMP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60896", "type": "external" } ], "mass": 16518.0, "length": 148, "protein_name": "Receptor activity-modifying protein 3", "gene_name": "RAMP3", "organism": "Human", "refseq_name": "receptor activity-modifying protein 3 precursor", "refseq_ac": [ { "id": "NP_005847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005847", "type": "external" } ], "gene_names_uniprotkb": "RAMP3", "gene_names_refseq": "RAMP3", "protein_names_uniprotkb": "Receptor activity-modifying protein 3; CRLR activity-modifying protein 3; Calcitonin-receptor-like receptor activity-modifying protein 3", "protein_names_refseq": "CRLR activity-modifying protein 3; calcitonin receptor-like receptor activity modifying protein 3; receptor (G protein-coupled) activity modifying protein 3; receptor (calcitonin) activity modifying protein 3; receptor activity-modifying protein 3 precursor", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:10268); (R-HSA-418555); (R-HSA-419812)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10217420;11007482;11237011;11693189;12036966;12058044;12106601;12180353;12860470;1331173;13549488;14615490;14671004;14722252;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17168849;17665333;18044684;18577758;19105585;19876791;19929708;20381629;20573757;21036126;2163110;2177866;23153230;23674134;24169554;2417744;24687066;2491850;25297013;2553411;2553705;2608057;26417854;26432182;26559125;27862975;2871555;29171818;29255900;29443750;29557506;29602314;2985435;30833991;3127824;31279028;31311674;31399091;31556018;31800988;31983287;32145209;32157095;32226383;32266704;32296767;32497535;32540603;32618402;32636324;32715661;32851644;33049737;35051231;35324283;37074911;6085243;6148938;6609312;8340388;8387282;8514797;8626685;8672451;9212325;9263355;9417641;9620797;9651336", "class_list": "", "function": "Accessory protein that interacts with and modulates the function of G protein-coupled receptors including calcitonin gene-related peptide type 1 receptor (CALCRL), calcitonin receptor (CALCR) and G protein-coupled estrogen receptor 1 (GPER1) (PubMed:23674134, PubMed:9620797). Required for the transport of CALCRL and GPER1 receptors to the plasma membrane (PubMed:23674134, PubMed:9620797). Plays a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a GPER1-dependent manner (PubMed:23674134). Together with CALCRL, form a receptor complex for adrenomedullin/ADM and intermedin/ADM2 (PubMed:32296767). Together with CALCR, act as a receptor complex for amylin/IAPP (PubMed:35324283)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 9474, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z2Y1", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:0001540 amyloid-beta binding;GO:0001605 adrenomedullin receptor activity;GO:0097643 amylin receptor activity;GO:0030545 signaling receptor regulator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0005764 lysosome;GO:0150058 amylin receptor complex 3", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0010628 positive regulation of gene expression;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O60896-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C029-2", "uniprot_id": [ { "id": "TRIM7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C029", "type": "external" } ], "mass": 56631.0, "length": 511, "protein_name": "E3 ubiquitin-protein ligase TRIM7", "gene_name": "TRIM7", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM7 isoform 4", "refseq_ac": [ { "id": "NP_203128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_203128", "type": "external" } ], "gene_names_uniprotkb": "TRIM7; GNIP; RNF90", "gene_names_refseq": "GNIP; RNF90; TRIM7", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM7; 2.3.2.27; Glycogenin-interacting protein; RING finger protein 90; Tripartite motif-containing protein 7", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM7 isoform 4; E3 ubiquitin-protein ligase TRIM7; RING finger protein 90; glycogenin-interacting protein; tripartite motif protein TRIM7", "tax_id": 9606, "disease": "", "pathway": " (hsa:81786)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11331580;11916970;14984203;21940674;25851810;29242379;29393594;29557506;32126128;32161166;32641828;32853985;32938616;32983136;33989636;34062120;35051231;35867826;35893676;35982226;36042481;36067704;36402943;37023504;38509147", "class_list": "", "function": "(Microbial infection) Promotes Zika virus replication by mediating envelope protein E ubiquitination., [UniProtKB, PubMed]; E3 ubiquitin-protein ligase that have both tumor-promoting and tumor-suppressing activities and functions in several biological processes including innate immunity, regulation of ferroptosis as well as cell proliferation and migration (PubMed:25851810, PubMed:32853985, PubMed:34062120). Acts as an antiviral effector against multiple viruses by targeting specific viral proteins for ubiquitination and degradation including norovirus NTPase protein or SARS-CoV-2 NSP5 and NSP8 proteins (PubMed:34062120, PubMed:35982226). Mechanistically, recognizes the C-terminal glutamine-containing motif usually generated by viral proteases that process the polyproteins and trigger their ubiquitination and subsequent degradation (PubMed:35867826, PubMed:35893676, PubMed:35982226). Mediates 'Lys-63'-linked polyubiquitination and stabilization of the JUN coactivator RNF187 in response to growth factor signaling via the MEK/ERK pathway, thereby regulating JUN transactivation and cellular proliferation (PubMed:25851810). Promotes the TLR4-mediated signaling activation through its E3 ligase domain leading to production of pro-inflammatory cytokines and type I interferon (By similarity). Also plays a negative role in the regulation of exogenous cytosolic DNA virus-triggered immune response. Mechanistically, enhances the 'Lys-48'-linked ubiquitination of STING1 leading to its proteasome-dependent degradation (PubMed:32126128). Mediates the ubiquitination of the SIN3-HDAC chromatin remodeling complex component BRMS1 (PubMed:32853985). Modulates NCOA4-mediated ferritinophagy and ferroptosis in glioblastoma cells by ubiquitinating NCOA4, leading to its degradation (PubMed:36067704)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; GNIP, a novel protein that binds and activates glycogenin, the self-glucosylating initiator of glycogen biosynthesis, [RefSeq, PubMed]; GNIP1 functions both as a scaffold protein and an E3 ubiquitin ligase to regulate autophagy in lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Study on the expression of TRIM7 in peripheral blood mononuclear cells of patients with sepsis and its early diagnostic value. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM28 is a specific SUMO E3 ligase of interferon regulatory factor (IRF)7 and negatively regulates its activity and interferon (IFN)-based antiviral responses, in support of the expanding roles of TRIM proteins which regulate innate immunity., [RefSeq, PubMed]; TRIM7 inhibits encephalomyocarditis virus replication by activating interferon-beta signaling pathway., [RefSeq, PubMed]; TRIM7 modulates NCOA4-mediated ferritinophagy and ferroptosis in glioblastoma cells., [RefSeq, PubMed]; The E3 ligase TRIM7 suppresses the tumorigenesis of gastric cancer by targeting SLC7A11. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RUE4;D3DWR7;Q969F5;Q96F67;Q96J89;Q96J90", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0045087 innate immune response;GO:0016567 protein ubiquitination;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9C029-2", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GUQ0-1", "uniprot_id": [ { "id": "F236A_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GUQ0", "type": "external" } ], "mass": 8715.0, "length": 79, "protein_name": "Protein FAM236A", "gene_name": "FAM236A", "organism": "Human", "refseq_name": "protein FAM236A isoform 1", "refseq_ac": [ { "id": "NP_001334999", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334999", "type": "external" } ], "gene_names_uniprotkb": "FAM236A", "gene_names_refseq": "DMRTC1-AS1; FAM236A; LINC00684", "protein_names_uniprotkb": "Protein FAM236A", "protein_names_refseq": "DMRTC1 antisense RNA 1 (non-protein coding); family with sequence similarity 235 member A; long intergenic non-protein coding RNA 684; protein FAM236A isoform 1; protein FAM236A", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129407); (hsa:100132304)", "pathway_count": 2, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GUQ0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUQ9-1", "uniprot_id": [ { "id": "CYRIB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUQ9", "type": "external" } ], "mass": 36748.0, "length": 324, "protein_name": "CYFIP-related Rac1 interactor B", "gene_name": "CYRIB", "organism": "Human", "refseq_name": "CYFIP-related Rac1 interactor B isoform 1", "refseq_ac": [ { "id": "NP_001243692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243692", "type": "external" } ], "gene_names_uniprotkb": "CYRIB; BM-009; CYRI; FAM49B", "gene_names_refseq": "BM-009; CYRI-B; CYRIB; CYRI; FAM49B; L1", "protein_names_uniprotkb": "CYFIP-related Rac1 interactor B; L1", "protein_names_refseq": "CYFIP-related Rac1 interactor B isoform 1; FAM49B/JPH1 fusion; MTSS1/FAM49B fusion; family with sequence similarity 49 member B; protein FAM49B", "tax_id": 9606, "disease": "", "pathway": " (hsa:51571); (R-HSA-114608)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "11237011;1435334;14630798;15297306;20068231;23481700;23640497;24366607;25255805;25418920;25576301;25880248;25892735;26154972;26768311;26929215;26992070;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29059164;29242379;29393594;29493099;29557506;29632046;29769354;29786170;30192525;30250061;30315122;30410026;30429286;30524438;31285585;31844290;32157095;32350084;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34357683;34509645;34561969;34725712;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36499755;37264948;37540188;37938771;38712822;40914422;6457647;8467233", "class_list": "", "function": "A genome-wide genetic screen identifies CYRI-B as a negative regulator of CEACAM3-mediated phagocytosis., [RefSeq, PubMed]; CYRI-B-mediated macropinocytosis drives metastasis via lysophosphatidic acid receptor uptake. Publication Status: Online-Only, [RefSeq, PubMed]; GOLM1 and FAM49B: Potential Biomarkers in HNSCC Based on Bioinformatics and Immunohistochemical Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; LANCL1, a cell surface protein, promotes liver tumor initiation through FAM49B-Rac1 axis to suppress oxidative stress., [RefSeq, PubMed]; Negatively regulates RAC1 signaling and RAC1-driven cytoskeletal remodeling (PubMed:30250061, PubMed:31285585). Regulates chemotaxis, cell migration and epithelial polarization by controlling the polarity, plasticity, duration and extent of protrusions. Limits Rac1 mediated activation of the Scar/WAVE complex, focuses protrusion signals and regulates pseudopod complexity by inhibiting Scar/WAVE-induced actin polymerization (PubMed:30250061). Protects against Salmonella bacterial infection. Attenuates processes such as macropinocytosis, phagocytosis and cell migration and restrict sopE-mediated bacterial entry (PubMed:31285585). Also restricts infection mediated by Mycobacterium tuberculosis and Listeria monocytogenes (By similarity). Involved in the regulation of mitochondrial dynamics and oxidative stress (PubMed:29059164)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96AZ5;Q9NW21;Q9NZE7", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0023030 MHC class Ib protein binding, via antigen binding groove", "go_cellular_component": "GO:0005576 extracellular region;GO:0005739 mitochondrion;GO:0005929 cilium;GO:0016020 membrane;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0090140 regulation of mitochondrial fission;GO:0051058 negative regulation of small GTPase mediated signal transduction;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0030334 regulation of cell migration;GO:0032729 positive regulation of type II interferon production", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9NUQ9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCS2-1", "uniprot_id": [ { "id": "CP4FC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCS2", "type": "external" } ], "mass": 60309.0, "length": 524, "protein_name": "Cytochrome P450 4F12", "gene_name": "CYP4F12", "organism": "Human", "refseq_name": "cytochrome P450 4F12", "refseq_ac": [ { "id": "NP_076433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076433", "type": "external" } ], "gene_names_uniprotkb": "CYP4F12; PRO1129", "gene_names_refseq": "CYP4F12; CYPIVF12; F22329_1", "protein_names_uniprotkb": "Cytochrome P450 4F12; 1.14.14.1; CYPIVF12", "protein_names_refseq": "cytochrome P450 4F12; cytochrome P450, family 4, subfamily F, polypeptide 12; cytochrome P450, subfamily IVF, polypeptide 12", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:66002); (R-HSA-211935); (R-HSA-211979)", "pathway_count": 3, "publication_count": 28, "publication_id_list": "10405341;10791960;11162607;11162645;11237011;12975309;15006160;16112640;16303743;16436457;29557506;30620550;30833945;31154438;33392160;34087483;34319593;35051231;35494241;36010968;37414830;38811154;8631948;8913342;8914854;9539102;9600267;9799565", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of endogenous polyunsaturated fatty acids (PUFAs). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes the hydroxylation of carbon hydrogen bonds, with preference for omega-2 position. Metabolizes (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) toward 18-hydroxy arachidonate (PubMed:11162607). Catalyzes the epoxidation of double bonds of PUFAs such as docosapentaenoic and docosahexaenoic acids (PubMed:16112640). Has low omega-hydroxylase activity toward leukotriene B4 and arachidonate (PubMed:11162645). Involved in the metabolism of xenobiotics. Catalyzes the hydroxylation of the antihistamine drug ebastine (PubMed:11162645)., [UniProtKB, PubMed, PubMed, PubMed]; CYP4F12 is a potential biomarker and inhibits cell migration of head and neck squamous cell carcinoma via EMT pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variants of CYP4F12 gene are associated with glioma susceptibility., [RefSeq, PubMed]; Integrative Analysis of Histone Acetylation Regulated CYP4F12 in Esophageal Cancer Development. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E7ET51;O60389;Q5JPJ7;Q9HCS1", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "1.14.14.130", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.130", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0008392 arachidonate epoxygenase activity;GO:0004497 monooxygenase activity;GO:0050051 leukotriene-B4 20-monooxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0001676 long-chain fatty acid metabolic process;GO:0003091 renal water homeostasis;GO:0006631 fatty acid metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9HCS2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPA8-1", "uniprot_id": [ { "id": "ENY2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPA8", "type": "external" } ], "mass": 11529.0, "length": 101, "protein_name": "Transcription and mRNA export factor ENY2", "gene_name": "ENY2", "organism": "Human", "refseq_name": "transcription and mRNA export factor ENY2 isoform 2", "refseq_ac": [ { "id": "NP_001180486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180486", "type": "external" } ], "gene_names_uniprotkb": "ENY2; DC6", "gene_names_refseq": "DC6; ENY2; Sus1; e(y)2", "protein_names_uniprotkb": "Transcription and mRNA export factor ENY2; Enhancer of yellow 2 transcription factor homolog", "protein_names_refseq": "enhancer of yellow 2 homolog; enhancer of yellow 2 transcription factor homolog; transcription and mRNA export factor ENY2 isoform 2; transcription and mRNA export factor ENY2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56943); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10786633;10821277;11237011;11438676;15313887;16387653;18206972;18381289;18623064;19187765;20018852;20068231;20112406;21746879;22307388;23481700;23591820;24366607;24714562;25576301;25645385;26754738;26992070;27600516;27601583;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;30315122;30410026;30524438;31154438;31217245;31530632;31611695;31844290;31848261;32157095;32387766;32897882;32938616;33043033;33214551;33298915;33592498;33936100;33968037;34019948;34171305;35051231;35154160;35251023;35580925;9427644;9558366;9880483", "class_list": "", "function": "Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates to a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery., [UniProtKB, HAMAP, UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RE52;G3V117", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0044615 nuclear pore nuclear basket;GO:0005654 nucleoplasm;GO:0071819 DUBm complex;GO:0070390 transcription export complex 2;GO:0000124 SAGA complex", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006406 mRNA export from nucleus;GO:0015031 protein transport;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9NPA8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZRH7-1", "uniprot_id": [ { "id": "CTSRG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZRH7", "type": "external" } ], "mass": 133032.0, "length": 1159, "protein_name": "Cation channel sperm-associated auxiliary subunit gamma", "gene_name": "CATSPERG", "organism": "Human", "refseq_name": "cation channel sperm-associated auxiliary subunit gamma isoform 1 precursor", "refseq_ac": [ { "id": "NP_067008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067008", "type": "external" } ], "gene_names_uniprotkb": "CATSPERG; C19orf15", "gene_names_refseq": "C19orf15; CATSPERG", "protein_names_uniprotkb": "Cation channel sperm-associated auxiliary subunit gamma", "protein_names_refseq": "cation channel sperm associated auxiliary subunit gamma; cation channel sperm-associated auxiliary subunit gamma isoform 1 precursor; cation channel sperm-associated protein subunit gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:57828); (R-HSA-1300642)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11595941;17227845;17460039;20144758;20648059;21412338;21412339;23530196;24715725;27397612;28855257;30429286;31154438;31844290;31848261;32387766;33912179;35051231;9452476", "class_list": "", "function": "Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization., [UniProtKB, UniProtKB]; CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NEG6;Q659E1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036128 CatSper complex;GO:0005886 plasma membrane;GO:0031514 motile cilium;GO:0097228 sperm principal piece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q6ZRH7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYQ4-1", "uniprot_id": [ { "id": "CV015_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYQ4", "type": "external" } ], "mass": 16487.0, "length": 148, "protein_name": "Uncharacterized protein C22orf15", "gene_name": "C22orf15", "organism": "Human", "refseq_name": "uncharacterized protein C22orf15 isoform 1", "refseq_ac": [ { "id": "NP_872326", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872326", "type": "external" } ], "gene_names_uniprotkb": "C22orf15", "gene_names_refseq": "C22orf15; N27C7-3", "protein_names_uniprotkb": "Uncharacterized protein C22orf15; Protein N27C7-3", "protein_names_refseq": "protein N27C7-3; uncharacterized protein C22orf15 isoform 1; uncharacterized protein C22orf15", "tax_id": 9606, "disease": "", "pathway": " (hsa:150248)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18477386;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6ICJ7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8WYQ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4K0-1", "uniprot_id": [ { "id": "LOXL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4K0", "type": "external" } ], "mass": 86725.0, "length": 774, "protein_name": "Lysyl oxidase homolog 2", "gene_name": "LOXL2", "organism": "Human", "refseq_name": "lysyl oxidase homolog 2 precursor", "refseq_ac": [ { "id": "NP_002309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002309", "type": "external" } ], "gene_names_uniprotkb": "LOXL2", "gene_names_refseq": "LOR2; LOR; LOXL2; WS9-14", "protein_names_uniprotkb": "Lysyl oxidase homolog 2; 1.4.3.13; Lysyl oxidase-like protein 2; Lysyl oxidase-related protein 2; Lysyl oxidase-related protein WS9-14", "protein_names_refseq": "lysyl oxidase homolog 2 precursor; lysyl oxidase homolog 2; lysyl oxidase related 2; lysyl oxidase-like 2 delta e13; lysyl oxidase-like 2 protein; lysyl oxidase-like protein 2; lysyl oxidase-related protein 2; lysyl oxidase-related protein WS9-14", "tax_id": 9606, "disease": "", "pathway": " (hsa:4017); (R-HSA-1566948); (R-HSA-2243919)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;10198291;10212285;10936461;11237011;11313359;11481325;12211432;1237296;1348714;1484505;1567360;16096638;16906757;19729652;20026874;20306300;20439985;20818376;21233336;21732535;21835952;22157764;22204712;22483618;22842973;23090970;23319596;24014025;24190977;24239292;24414204;25576301;25959397;26992070;27339457;27726376;27735137;27846572;27920218;28332555;29314611;29557506;29581294;29741879;29789417;30484775;30833945;31844290;32157095;32488085;32938616;33592498;33968037;34171305;35051231;35580925;3595596;36010968;36215666;36241641;37074911;37511503;37737908;38451841;38520980;38665916;39011679;3992061;41816;5246001;5723342;6123066;6129847;641035;8617364;8636146;9079631;9470928", "class_list": "", "function": "LOXL2-mediated chromatin compaction is required to maintain the oncogenic properties of triple-negative breast cancer cells., [RefSeq, PubMed]; Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine) (PubMed:27735137). Acts as a transcription corepressor and specifically mediates deamination of trimethylated 'Lys-4' of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation (PubMed:27735137). Shows no activity against histone H3 when it is trimethylated on 'Lys-9' (H3K9me3) or 'Lys-27' (H3K27me3) or when 'Lys-4' is monomethylated (H3K4me1) or dimethylated (H3K4me2) (PubMed:27735137). Also mediates deamination of methylated TAF10, a member of the transcription factor IID (TFIID) complex, which induces release of TAF10 from promoters, leading to inhibition of TFIID-dependent transcription (PubMed:25959397). LOXL2-mediated deamination of TAF10 results in transcriptional repression of genes required for embryonic stem cell pluripotency including POU5F1/OCT4, NANOG, KLF4 and SOX2 (By similarity). Involved in epithelial to mesenchymal transition (EMT) via interaction with SNAI1 and participates in repression of E-cadherin CDH1, probably by mediating deamination of histone H3 (PubMed:16096638, PubMed:24414204, PubMed:27735137). During EMT, involved with SNAI1 in negatively regulating pericentromeric heterochromatin transcription (PubMed:24239292). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (PubMed:24239292). Interacts with the endoplasmic reticulum protein HSPA5 which activates the IRE1-XBP1 pathway of the unfolded protein response, leading to expression of several transcription factors involved in EMT and subsequent EMT induction (PubMed:28332555). Involved in E-cadherin repression following hypoxia, a hallmark of EMT believed to amplify tumor aggressiveness, suggesting that it may play a role in tumor progression (PubMed:20026874). When secreted into the extracellular matrix, promotes cross-linking of extracellular matrix proteins by mediating oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:20306300). Acts as a regulator of sprouting angiogenesis, probably via collagen IV scaffolding (PubMed:21835952). Acts as a regulator of chondrocyte differentiation, probably by regulating expression of factors that control chondrocyte differentiation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; MiR-4465-modified mesenchymal stem cell-derived small extracellular vesicles inhibit liver fibrosis development via targeting LOXL2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Multiple Roles of LOXL2 in the Progression of Hepatocellular Carcinoma and Its Potential for Therapeutic Targeting. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Simultaneous disturbance of NHE1 and LOXL2 decreases tumorigenicity of head and neck squamous cell carcinoma., [RefSeq, PubMed]; The role of LOXL2 induced by glucose metabolism-activated NF-kappaB in maintaining drug resistance through EMT and cancer stemness in gemcitabine-resistant PDAC., [RefSeq, PubMed]; This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R5Q0;Q53HV3;Q9BW70;Q9Y5Y8", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19", "type": "external" }, { "id": "1.4.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.13", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" } ], "go_molecular_function": "GO:0070492 oligosaccharide binding;GO:0005509 calcium ion binding;GO:0005507 copper ion binding;GO:0004720 protein-lysine 6-oxidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0036211 protein modification process;GO:1902455 negative regulation of stem cell population maintenance;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0001666 response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9Y4K0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86X53-1", "uniprot_id": [ { "id": "ERIC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86X53", "type": "external" } ], "mass": 48984.0, "length": 443, "protein_name": "Glutamate-rich protein 1", "gene_name": "ERICH1", "organism": "Human", "refseq_name": "glutamate-rich protein 1 isoform 1", "refseq_ac": [ { "id": "NP_997215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997215", "type": "external" } ], "gene_names_uniprotkb": "ERICH1; HSPC319", "gene_names_refseq": "ERICH1; HSPC319", "protein_names_uniprotkb": "Glutamate-rich protein 1", "protein_names_refseq": "glutamate-rich protein 1 isoform 1; glutamate-rich protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:157697)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;16959974;17322306;18452278;18669648;18767875;19007248;19608861;19651622;19690332;20068231;21406692;23186163;27846572;28832583;29242379;29557506;30429286;31217245;31844290;32157095;32357974;32938616;33298915;35051231;35561310;35580925;36581221", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K2J9;Q9P063", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q86X53-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JZY3-1", "uniprot_id": [ { "id": "EPHAA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JZY3", "type": "external" } ], "mass": 109716.0, "length": 1008, "protein_name": "Ephrin type-A receptor 10", "gene_name": "EPHA10", "organism": "Human", "refseq_name": "ephrin type-A receptor 10 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001092909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092909", "type": "external" } ], "gene_names_uniprotkb": "EPHA10", "gene_names_refseq": "DFNA88; EPHA10", "protein_names_uniprotkb": "Ephrin type-A receptor 10; Inactive tyrosine-protein kinase EPHA10", "protein_names_refseq": "EphA10s protein; Ephrin type-A receptor 10; ephrin type-A receptor 10 isoform 3 precursor", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 88 (Disease Ontology:DOID:0070611)", "pathway": " (hsa:284656); (R-HSA-2682334); (R-HSA-3928663); (R-HSA-3928665)", "pathway_count": 4, "publication_count": 44, "publication_id_list": "10769020;10848605;11179879;11237011;11448999;11780069;12084815;12495863;12973357;15351694;15777695;15848799;15848800;16511561;17322526;17344846;17428795;17928214;18713744;18819711;19525919;20496116;21737611;28832583;29557506;29632046;29786170;31154438;31844290;31848261;32938616;33392160;33436772;33981976;33990369;34431498;34561969;35051231;35494241;35580925;35839564;36048850;36241641;9499402", "class_list": "", "function": "A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans., [RefSeq, PubMed]; CLL B-cells showed a more heterogeneous Eph/EFN profile, specially EFNA4, EphB6 and EphA10., [RefSeq, PubMed]; Coexpression of EphA10 and Gli3 promotes breast cancer cell proliferation, invasion and migration., [RefSeq, PubMed]; EPHA10 does not interact with EPHB6 in breast neoplasms, [RefSeq, PubMed]; EphA10 drives tumor progression and immune evasion by regulating the MAPK/ERK cascade in lung adenocarcinoma., [RefSeq, PubMed]; Ephrin A4-ephrin receptor A10 signaling promotes cell migration and spheroid formation by upregulating NANOG expression in oral squamous cell carcinoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008]., [RefSeq]; Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4FU89;J3KPB5;Q6NW42", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0005005 transmembrane-ephrin receptor activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "GO:0048013 ephrin receptor signaling pathway;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q5JZY3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UX52-1", "uniprot_id": [ { "id": "IL40_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UX52", "type": "external" } ], "mass": 29091.0, "length": 265, "protein_name": "Protein IL-40", "gene_name": "C17orf99", "organism": "Human", "refseq_name": "protein IL-40 precursor", "refseq_ac": [ { "id": "NP_001156547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156547", "type": "external" } ], "gene_names_uniprotkb": "C17orf99; IL40; PRO809", "gene_names_refseq": "C17orf99; IL-40; IL40; UNQ464", "protein_names_uniprotkb": "Protein IL-40; IL-40; Interleukin-40", "protein_names_refseq": "GLPG464; interleukin-40; protein IL-40 precursor; protein IL-40; uncharacterized protein C17orf99", "tax_id": 9606, "disease": "", "pathway": " (hsa:100141515)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12975309;15340161;28978694;32938616;35051231;35251023;37951185;38286266;39080724", "class_list": "", "function": "A novel intergenic variant, rs2004339 A/G, of the gene encoding interleukin-40, C17orf99, is associated with risk of rheumatoid arthritis in Iraqi women., [RefSeq, PubMed]; IL-40 is up-regulated in the synovial fluid and cartilage of osteoarthritis patients and contributes to the alteration of chondrocytes phenotype in vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular landscape of the interleukin-40 encoding gene, C17orf99, in patients with acute myeloid leukemia., [RefSeq, PubMed]; Probable B cell-associated cytokine that plays a role in the regulation of humoral immune responses. Involved in lymphocyte B cell development and immunoglobulin/IgA production., [UniProtKB, UniProtKB]; These observations indicate that C17orf99 encodes a novel B cell-associated cytokine, which we have called IL-40, that plays an important role in humoral immune responses and may also play a role in B cell development., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response;GO:2000558 positive regulation of immunoglobulin production in mucosal tissue;GO:0002313 mature B cell differentiation involved in immune response", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6UX52-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49790-1", "uniprot_id": [ { "id": "NU153_HUMAN", "url": "https://www.uniprot.org/uniprot/P49790", "type": "external" } ], "mass": 153938.0, "length": 1475, "protein_name": "Nuclear pore complex protein Nup153", "gene_name": "NUP153", "organism": "Human", "refseq_name": "nuclear pore complex protein Nup153 isoform 1", "refseq_ac": [ { "id": "NP_001265138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265138", "type": "external" } ], "gene_names_uniprotkb": "NUP153", "gene_names_refseq": "HNUP153; N153; NUP153", "protein_names_uniprotkb": "Nuclear pore complex protein Nup153; 153 kDa nucleoporin; Nucleoporin Nup153", "protein_names_refseq": "153 kDa nucleoporin; nuclear pore complex protein Nup153 isoform 1; nuclear pore complex protein hnup153; nucleoporin 153kDa; nucleoporin 153kD; nucleoporin Nup153", "tax_id": 9606, "disease": "", "pathway": " (hsa:9972); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9705671)", "pathway_count": 31, "publication_count": 542, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Binds HIV-2 protein vpx and thereby promotes the nuclear translocation of the lentiviral genome (in vitro)., [UniProtKB, PubMed, PubMed]; (Microbial infection) Interacts with HIV-1 capsid protein P24 and thereby promotes the integration of the virus in the nucleus of non-dividing cells (in vitro)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with TPR, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Mediates TPR anchoring to the nuclear membrane at NPC. The repeat-containing domain may be involved in anchoring other components of the NPC to the pore membrane. Possible DNA-binding subunit of the nuclear pore complex (NPC)., [UniProtKB, PubMed, PubMed, PubMed]; Defining the HIV Capsid Binding Site of Nucleoporin 153., [RefSeq, PubMed]; Human RTEL1 Interacts with KPNB1 (Importin beta) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase. Publication Status: Online-Only, [RefSeq, PubMed]; NUP153 promotes HCC cells proliferation via c-Myc-mediated downregulation of P15[INK4b]., [RefSeq, PubMed]; Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]., [RefSeq]; Nucleoporin 153 deficiency in adult neural stem cells defines a pathological protein-network signature and defective neurogenesis in a mouse model of AD. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 6, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 174, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 174, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 174, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 72, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 216, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 176, "binding_glycan_count": 0, "secondary_ac_list": "B4DIK2;E7EPX5;F6QR24;Q4LE47;Q5T9I7;Q7Z743", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0043495 protein-membrane adaptor activity;GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0044615 nuclear pore nuclear basket;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0016020 membrane", "go_biological_process": "GO:0046832 negative regulation of RNA export from nucleus;GO:0075732 viral penetration into host nucleus;GO:0006913 nucleocytoplasmic transport;GO:1990000 amyloid fibril formation;GO:0046718 symbiont entry into host cell", "synthesized_glycan_count": 0, "hit_score": 71.9, "record_id": "P49790-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12913-1", "uniprot_id": [ { "id": "PTPRJ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12913", "type": "external" } ], "mass": 145941.0, "length": 1337, "protein_name": "Receptor-type tyrosine-protein phosphatase eta", "gene_name": "PTPRJ", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase eta isoform 2 precursor", "refseq_ac": [ { "id": "NP_001091973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091973", "type": "external" } ], "gene_names_uniprotkb": "PTPRJ; DEP1", "gene_names_refseq": "CD148; DEP1; HPTP eta; HPTPeta; PTPRJ; R-PTP-ETA; R-PTP-J; SCC1; THC10", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase eta; 3.1.3.48; DEP-1; Density-enhanced phosphatase 1; HPTP eta; Protein-tyrosine phosphatase eta; Protein-tyrosine phosphatase receptor type J; R-PTP-J; R-PTP-eta", "protein_names_refseq": "CD148 antigen; density-enhanced phosphatase 1; human density enhanced phosphatase-1; protein tyrosine phosphatase, receptor type, J polypeptide; protein-tyrosine phosphatase eta; receptor-type tyrosine-protein phosphatase eta isoform 2 precursor; receptor-type tyrosine-protein phosphatase eta; susceptibility to colon cancer 1, mouse, homolog of", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); thrombocytopenia (Disease Ontology:DOID:1588); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung adenocarcinoma (Disease Ontology:DOID:3910); colorectal cancer (Disease Ontology:DOID:9256); thrombocytopenia 10 (MONDO:MONDO:0957578)", "pathway": " (hsa:5795); (R-HSA-202427); (R-HSA-6798695); (R-HSA-6807004); (R-HSA-9706369)", "pathway_count": 5, "publication_count": 135, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10790433;10821867;11237011;11259588;11741535;11827988;11894096;12024036;12062403;12089527;12244174;12370829;12475979;12551915;12686592;12913111;12938237;14709717;15084594;15123609;15378013;15489910;15489916;15828871;16113677;16227611;16335952;16364187;16461343;16682945;16684964;16778204;17110436;17178829;17446348;18192505;18348712;18603590;18819921;18936167;19109251;19159218;19246339;19276253;19332538;19494114;19651622;19836242;19922411;20068231;20346773;21072051;21091576;21262971;21543337;22426112;22438257;22898603;22942183;22952242;23186163;23208509;23300935;23548639;23580664;23584533;23650620;23707526;24190977;24583284;24705897;24715725;24828152;2530588;25813380;26308771;26768311;27458164;27666490;28052032;28086240;28510447;28611190;28832583;28834231;28904123;29242379;29314611;29391424;29557506;29632711;29741879;29789417;29880609;30315122;30459171;30591527;31066629;32157095;32350084;32357974;32387766;32488085;32983136;33091337;33296397;33298915;33455071;33592498;33784491;33912179;33968037;34087483;34171305;34357683;34791835;34932366;35051231;35154160;35251023;35561310;35580925;35791609;35850306;37074911;41018975;7937872;7994032;8483328;8692836;9531590;9780142", "class_list": "", "function": "Activates angiogenesis and cell migration (PubMed:28052032). Downregulates the expression of the endothelial adhesion molecules ICAM1 and VCAM1 (PubMed:28052032)., [UniProtKB, PubMed]; CD148 Deficiency in Fibroblasts Promotes the Development of Pulmonary Fibrosis., [RefSeq, PubMed]; PTPRJ is downregulated in cervical squamous cell carcinoma., [RefSeq, PubMed]; Phagocytosis mediated by the human granulocyte receptor CEACAM3 is limited by the receptor-type protein tyrosine phosphatase PTPRJ., [RefSeq, PubMed]; The effects of CD148 Q276P/R326Q polymorphisms in A431D epidermoid cancer cell proliferation and epidermal growth factor receptor signaling., [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The relative expression levels of CD148 and CD180 on clonal B cells and CD148/CD180 median fluorescence intensity ratios are useful in the characterization of mature B cell lymphoid neoplasms infiltrating blood and bone marrow - Results from a single centre pilot study., [RefSeq, PubMed]; Tyrosine phosphatase which dephosphorylates or contributes to the dephosphorylation of CTNND1, FLT3, PDGFRB, MET, KDR, LYN, SRC, MAPK1, MAPK3, EGFR, TJP1, OCLN, PIK3R1 and PIK3R2 (PubMed:10821867, PubMed:12062403, PubMed:12370829, PubMed:12475979, PubMed:18348712, PubMed:19494114, PubMed:19922411, PubMed:21262971). Plays a role in cell adhesion, migration, proliferation and differentiation (PubMed:12370829, PubMed:14709717, PubMed:16682945, PubMed:19836242). Has a role in megakaryocytes and platelet formation (PubMed:30591527). Involved in vascular development (By similarity). Regulator of macrophage adhesion and spreading (By similarity). Positively affects cell-matrix adhesion (By similarity). Positive regulator of platelet activation and thrombosis. Negative regulator of cell proliferation (PubMed:16682945). Negative regulator of PDGF-stimulated cell migration; through dephosphorylation of PDGFR (PubMed:21091576). Positive regulator of endothelial cell survival, as well as of VEGF-induced SRC and AKT activation; through KDR dephosphorylation (PubMed:18936167). Negative regulator of EGFR signaling pathway; through EGFR dephosphorylation (PubMed:19836242). Enhances the barrier function of epithelial junctions during reassembly (PubMed:19332538). Negatively regulates T-cell receptor (TCR) signaling (PubMed:11259588, PubMed:9531590, PubMed:9780142). Upon T-cell TCR activation, it is up-regulated and excluded from the immunological synapses, while upon T-cell-antigen presenting cells (APC) disengagement, it is no longer excluded and can dephosphorylate PLCG1 and LAT to down-regulate prolongation of signaling (PubMed:11259588, PubMed:12913111)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 16, "predicted_n_glycosites": 15, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 22, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 18, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 22, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 22, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 117, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 44, "disease_count": 6, "glyco_site_count": 49, "binding_glycan_count": 0, "secondary_ac_list": "Q15255;Q6P4H4;Q8NHM2;Q9UDA9", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.14.19.17", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.17", "type": "external" }, { "id": "5.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.-", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0051019 mitogen-activated protein kinase binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0009986 cell surface;GO:0030054 cell junction;GO:0035579 specific granule membrane", "go_biological_process": "GO:0060242 contact inhibition;GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0001525 angiogenesis;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q12913-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7K0-1", "uniprot_id": [ { "id": "COXM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7K0", "type": "external" } ], "mass": 12490.0, "length": 106, "protein_name": "COX assembly mitochondrial protein homolog", "gene_name": "CMC1", "organism": "Human", "refseq_name": "COX assembly mitochondrial protein homolog isoform 4", "refseq_ac": [ { "id": "NP_872329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872329", "type": "external" } ], "gene_names_uniprotkb": "CMC1; C3orf68", "gene_names_refseq": "C3orf68; CMC1; cmc1p", "protein_names_uniprotkb": "COX assembly mitochondrial protein homolog; Cmc1p", "protein_names_refseq": "C-x(9)-C motif containing 1; COX assembly mitochondrial protein 1 homolog; COX assembly mitochondrial protein homolog isoform 4; CX9C mitochondrial protein required for full expression of COX 1; mitochondrial metallochaperone-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:152100); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "11237011;18443040;19503089;20068231;20877624;22342701;23125284;23260140;23345593;23676665;23746447;24403053;25645385;25926683;25959673;26321642;26375851;27693358;27846572;28082314;28199844;28330871;29154948;31536960;31844290;32317297;32350084;32375044;32387766;32488085;33968037;34561969;34969438;35750769;38665916;9843204", "class_list": "", "function": "Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Our data indicate that CMC1 regulates turnover of newly synthesized COX1 prior to and during COX1 maturation, without affecting the rate of COX1 synthesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q68DJ7", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q7Z7K0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06265-1", "uniprot_id": [ { "id": "EXOS9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06265", "type": "external" } ], "mass": 48949.0, "length": 439, "protein_name": "Exosome complex component RRP45", "gene_name": "EXOSC9", "organism": "Human", "refseq_name": "exosome complex component RRP45 isoform 1", "refseq_ac": [ { "id": "NP_001029366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001029366", "type": "external" } ], "gene_names_uniprotkb": "EXOSC9; PMSCL1", "gene_names_refseq": "EXOSC9; PCH1D; PM/Scl-75; PMSCL1; RRP45; Rrp45p; p5; p6", "protein_names_uniprotkb": "Exosome complex component RRP45; Autoantigen PM/Scl 1; Exosome component 9; P75 polymyositis-scleroderma overlap syndrome-associated autoantigen; PM/Scl-75; Polymyositis/scleroderma autoantigen 1; Polymyositis/scleroderma autoantigen 75 kDa", "protein_names_refseq": "P75 polymyositis-scleroderma overlap syndrome associated autoantigen; PMSCL autoantigen, 75kD; autoantigen PM/Scl 1; exosome complex component RRP45 isoform 1; exosome complex component RRP45; exosome complex exonuclease RRP45; polymyositis/scleroderma autoantigen 1, 75kDa", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 1D (Disease Ontology:DOID:0112323)", "pathway": " (hsa:5393); (R-HSA-380994); (R-HSA-429958); (R-HSA-450385); (R-HSA-450513); (R-HSA-450604); (R-HSA-6791226); (R-HSA-9930044)", "pathway_count": 8, "publication_count": 189, "publication_id_list": "10330172;10465791;10958673;11237011;11283721;11719186;11782436;11922599;12068309;12150911;12198173;12324455;12639954;12646273;12705825;12748283;12788944;14688255;14742429;14749774;14976220;15014438;15068804;15117938;15175153;15231747;15273322;15385533;15475613;15514971;15538381;15687258;15769464;15944294;16037817;16043514;16141059;16262601;16364914;16455498;16648466;16687408;16738141;16912112;16912217;16931790;16989641;17030608;17081983;17133347;17174896;17189298;17245413;17322306;17353269;17369404;17412707;17545563;18065403;18285520;18326031;18367721;18438418;18441014;18452278;18481987;18669648;18684992;18767875;18840095;19007248;19060886;19106111;19141871;19198587;19217413;19225159;19239894;19332556;19413330;19564402;19608861;19651622;19690332;19691289;19729507;19801658;19854161;20022965;20038530;20056613;20068231;2007859;20361218;20531386;20531389;20798176;20805244;20819938;21036871;21063389;21097556;21406692;21705430;21855801;21872626;21993680;22072790;22190735;22195017;22802018;22819556;22916032;22978410;23186163;23223233;23269699;23439679;23482395;2388630;24105744;24275569;24366607;24424021;24550520;24714562;25114211;25218447;25505266;25525153;25576301;25578728;25755297;25772364;25969445;26154972;26237581;2663993;2664463;26992070;27434818;27846572;27862975;27871484;28904123;29298432;29413899;29557506;29727687;29769354;29906447;30379171;30429286;30484775;30690203;31217245;31844290;31950173;32157095;32265295;32387766;32488085;32502341;32518284;3260265;32938616;32983136;33040083;33392160;33592498;33717175;33767452;33912179;33913806;33936100;33968037;33981976;34019948;34171305;34509645;34725712;34932366;35051231;35138101;36241641;37875486;37887339;40914422;9482744", "class_list": "", "function": "EXOSC9 depletion attenuates P-body formation, stress resistance, and tumorigenicity of cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Exosc9 Initiates SUMO-Dependent lncRNA TERRA Degradation to Impact Telomeric Integrity in Endocrine Therapy Insensitive Hormone Receptor-Positive Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Expanded PCH1D phenotype linked to EXOSC9 mutation., [RefSeq, PubMed]; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy., [RefSeq, PubMed]; The mammalian exosome mediates the efficient degradation of mRNAs that contain AU-rich elements, possibly by direct binding of PM/Scl-75 to these RNA regions., [RefSeq, PubMed]; This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q12883;Q4W5P5;Q86Y41;Q86Y48", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0000175 3'-5'-RNA exonuclease activity;GO:0035925 mRNA 3'-UTR AU-rich region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071028 nuclear mRNA surveillance;GO:0034473 U1 snRNA 3'-end processing;GO:0034476 U5 snRNA 3'-end processing;GO:0006396 RNA processing;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "Q06265-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2L1-1", "uniprot_id": [ { "id": "RRP44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2L1", "type": "external" } ], "mass": 109003.0, "length": 958, "protein_name": "Exosome complex exonuclease RRP44", "gene_name": "DIS3", "organism": "Human", "refseq_name": "exosome complex exonuclease RRP44 isoform b", "refseq_ac": [ { "id": "NP_001121698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121698", "type": "external" } ], "gene_names_uniprotkb": "DIS3; KIAA1008; RRP44", "gene_names_refseq": "2810028N01Rik; DIS3; EXOSC11; KIAA1008; RRP44; dis3p", "protein_names_uniprotkb": "Exosome complex exonuclease RRP44; 3.1.13.-; 3.1.26.-; Protein DIS3 homolog; Ribosomal RNA-processing protein 44", "protein_names_refseq": "DIS3 exosome endoribonuclease and 3''-5'' exoribonuclease; DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease; DIS3 mitotic control homolog; exosome complex exonuclease RRP44 isoform b; exosome complex exonuclease RRP44; exosome component 11; mitotic control protein dis3 homolog; ribosomal RNA-processing protein 44", "tax_id": 9606, "disease": "primary ovarian insufficiency (Disease Ontology:DOID:5426); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:22894); (R-HSA-380994); (R-HSA-429958); (R-HSA-450385); (R-HSA-450513); (R-HSA-450604); (R-HSA-6791226); (R-HSA-9930044)", "pathway_count": 8, "publication_count": 219, "publication_id_list": "10330172;10958673;11237011;11283721;11719186;11922599;11935316;12068309;12150911;12198173;12324455;12429849;12639954;12646273;12705825;12748283;14688255;14742429;14749774;14976220;15014438;15068804;15117938;15175153;15231747;15273322;15385533;15475613;15514971;15538381;15687258;15769464;15944294;16037817;16043514;16141059;16262601;16364914;16648466;16687408;16738141;16912112;16931790;16989641;17030608;17133347;17174896;17189298;17245413;17353269;17369404;17412707;17545563;18065403;18285520;18326031;18367721;18438418;18441014;18481987;18684992;18840095;18991276;19056938;19060886;19106111;19141871;19198587;19225159;19239894;19332556;19564402;19608861;19729507;19801658;19854161;20022965;20038530;20056613;20361218;20531386;20531389;20798176;20805244;20819938;21036871;21063389;21097556;21705430;21855801;22072790;22190735;22195017;22645359;22802018;22819556;22916032;22978410;23186163;23223233;23269699;23439679;23481700;23482395;2388630;24366607;24424021;24550520;24714562;25220460;25418920;25525153;25576301;25578728;25645385;25880248;25969445;26154972;26237581;26375851;2663993;2664463;26811146;26992070;27434818;27600516;27846572;27871484;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29298432;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29906447;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31950173;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;3260265;32870666;32897882;32938616;32983136;33214551;33298915;33592498;33633747;33691108;33717175;33767452;33912179;33913806;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35138101;35318648;35561310;35580925;35902094;36010968;36215666;36215697;36241641;36284347;36835493;36869713;37439377;37875486;37938771;38665916;40914422;9482744;9562621", "class_list": "", "function": "DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis., [RefSeq, PubMed]; DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification. Publication Status: Online-Only, [RefSeq, PubMed]; DIS3: The Enigmatic Gene in Multiple Myeloma. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Dis3p is identical to Rrp44p, which comprises the exosome involved in ribosomal RNA processing. Similar to S. cerevisiae Dis3p, human Dis3p enhanced RCC1-stimulated nucleotide release from Ran, in a dose-dependent manner, and bound to GTP- or GDP-Ran. GeneRIF: S. cerevisiae Dis3p is identical to Rrp44p, which comprises the exosome involved in ribosomal RNA processing, S. cerevisiae Dis3p was found to be localized in the nucleolus. Erratum:[J Biochem (Tokyo) 1998 Jul;124(1):250], [RefSeq, PubMed]; Loss of ribonuclease DIS3 hampers genome integrity in myeloma by disrupting DNA:RNA hybrid metabolism., [RefSeq, PubMed]; MPP6 stimulates both RRP6 and DIS3 to degrade a specified subset of MTR4-sensitive substrates in the human nucleus., [RefSeq, PubMed]; Putative catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. DIS3 has both 3'-5' exonuclease and endonuclease activities., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NI21;B2RBL2;Q5W0P7;Q5W0P8;Q658Z7;Q7Z481;Q8WWI2;Q9UG36", "ec_number_list": [ { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0004519 endonuclease activity;GO:0000175 3'-5'-RNA exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006396 RNA processing;GO:0006364 rRNA processing;GO:0016075 rRNA catabolic process;GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 22.2, "record_id": "Q9Y2L1-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94887-1", "uniprot_id": [ { "id": "FARP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O94887", "type": "external" } ], "mass": 119888.0, "length": 1054, "protein_name": "FERM, ARHGEF and pleckstrin domain-containing protein 2", "gene_name": "FARP2", "organism": "Human", "refseq_name": "FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform b", "refseq_ac": [ { "id": "NP_001269912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269912", "type": "external" } ], "gene_names_uniprotkb": "FARP2; KIAA0793; PLEKHC3", "gene_names_refseq": "FARP2; FIR; FRG; PLEKHC3", "protein_names_uniprotkb": "FERM, ARHGEF and pleckstrin domain-containing protein 2; FERM domain-including RhoGEF; FERM, RhoGEF and pleckstrin domain-containing protein 2; FIR; PH domain-containing family C member 3; Pleckstrin homology domain-containing family C member 3", "protein_names_refseq": "FERM domain including RhoGEF; FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform b; FERM, ARHGEF and pleckstrin domain-containing protein 2; FERM, RhoGEF and pleckstrin domain protein 2; FERM, RhoGEF and pleckstrin domain-containing protein 2; FGD1-related Cdc42-GEF; PH domain-containing family C member 3; pleckstrin homology domain-containing family C member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9855); (R-HSA-399955); (R-HSA-9013149); (R-HSA-9958810)", "pathway_count": 4, "publication_count": 272, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10679438;10699171;10699464;10873802;10934324;10958683;11007481;11058585;11085924;11149925;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12422220;12432077;12531887;12546821;12547822;12650940;12665586;12771149;12857875;12877655;12923183;14512443;14514689;14517306;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15302923;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16243036;16286926;16473593;16492808;16507994;16519628;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16930978;16968698;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17686471;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18653540;18669648;18838382;19269969;19413330;19494238;19605563;19673492;19713215;19934221;20400958;20460433;20679435;20810653;21148482;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22323579;22407364;22475431;22544926;22608513;22734669;22970203;23186163;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24714562;24859002;24933155;24960694;25024229;25211221;25418920;25428919;25576301;25645385;25704760;25721503;25795300;25862245;25892735;26129894;26375851;26529257;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27846572;28114311;28196833;28228285;28278510;28832583;28904123;29089502;29242379;29356040;29358323;29382922;29557506;29632046;29632711;29769354;30315122;30429286;30524438;30853411;30872454;31217245;31844290;31871319;32157095;32203420;32357974;32387766;32488085;32502341;32938616;33298915;33633747;33717175;33912179;33968037;34185709;34405274;34509645;35051231;35561310;36010968;37217939;37938771;39894887;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9843499;9988689", "class_list": "", "function": "FARP2 is shown to promote GTP loading of Cdc42, which is consistent with it being involved in upstream regulation of the polarising PAR6-aPKCiota complex. Publication Status: Online-Only, [RefSeq, PubMed]; FRG is a member of Cdc42-GEF and plays an important role in the signaling pathway downstream of G protein-coupled receptors, [RefSeq, PubMed]; Functions as a guanine nucleotide exchange factor that activates RAC1. May have relatively low activity. Plays a role in the response to class 3 semaphorins and remodeling of the actin cytoskeleton. Plays a role in TNFSF11-mediated osteoclast differentiation, especially in podosome rearrangement and reorganization of the actin cytoskeleton. Regulates the activation of ITGB3, integrin signaling and cell adhesion (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6J8;F5GZ84;Q53QM5;Q8WU27;Q9UFE7", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0033623 regulation of integrin activation;GO:0007155 cell adhesion;GO:0016322 neuron remodeling;GO:0071526 semaphorin-plexin signaling pathway", "synthesized_glycan_count": 0, "hit_score": 27.5, "record_id": "O94887-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX05-1", "uniprot_id": [ { "id": "F120C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX05", "type": "external" } ], "mass": 120576.0, "length": 1096, "protein_name": "Constitutive coactivator of PPAR-gamma-like protein 2", "gene_name": "FAM120C", "organism": "Human", "refseq_name": "constitutive coactivator of PPAR-gamma-like protein 2 isoform 1", "refseq_ac": [ { "id": "NP_060318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060318", "type": "external" } ], "gene_names_uniprotkb": "FAM120C; CXorf17", "gene_names_refseq": "CXorf17; FAM120C; ORF34", "protein_names_uniprotkb": "Constitutive coactivator of PPAR-gamma-like protein 2; Protein FAM120C; Tumor antigen BJ-HCC-21", "protein_names_refseq": "constitutive coactivator of PPAR-gamma-like protein 2 isoform 1; constitutive coactivator of PPAR-gamma-like protein 2; family with sequence similarity 120C; tumor antigen BJ-HCC-21", "tax_id": 9606, "disease": "", "pathway": " (hsa:54954)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;14585507;18498374;25258334;25645385;27862975;28514659;28832583;28834231;29242379;29393594;30429286;30568303;30779550;31154438;31848261;32161166;38665916", "class_list": "", "function": "FAM120C is a novel candidate gene for autism spectrum disorder based on genetic evidence and the brain expression pattern., [RefSeq, PubMed]; This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]; Xp11.22 deletion including genes PHF8, FAM120C and WNK3 may be involved in the pathogenesis of autism. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RMT7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9NX05-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6J6-1", "uniprot_id": [ { "id": "FRMD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6J6", "type": "external" } ], "mass": 65065.0, "length": 570, "protein_name": "FERM domain-containing protein 5", "gene_name": "FRMD5", "organism": "Human", "refseq_name": "FERM domain-containing protein 5 isoform 2", "refseq_ac": [ { "id": "NP_116281", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116281", "type": "external" } ], "gene_names_uniprotkb": "FRMD5", "gene_names_refseq": "FRMD5; NEDEMA", "protein_names_uniprotkb": "FERM domain-containing protein 5", "protein_names_refseq": "FERM domain-containing protein 5 isoform 2; FERM domain-containing protein 5", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); neurodevelopmental disorder with eye movement abnormalities and ataxia (Disease Ontology:DOID:0081275)", "pathway": " (hsa:84978)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;18578522;18669648;22846708;25448675;28117551;28332615;30583072;31844290;32157095;33298915;33537174;33968037;34201607;35051231;36010968;36206744;36241641;38576116", "class_list": "", "function": "Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that FERM domain-containing protein 5 (FRMD5) is regulated by both beta-catenin and transcription factor 7-Like 2 protein (TCF7L2) in colon cancer cells., [RefSeq, PubMed]; De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures., [RefSeq, PubMed]; De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement., [RefSeq, PubMed]; FRMD5 may play a role in p120-catenin-based cell-cell contact and is involved in the regulation of tumor progression, [RefSeq, PubMed]; FRMD5 regulates tumor cell motility via a dual pathway involving FRMD5 binding to integrin beta5 tail and to ROCK1, [RefSeq, PubMed]; High FRMD5 expression is associated with hepatocarcinogenesis., [RefSeq, PubMed]; May be involved in regulation of cell migration (PubMed:22846708, PubMed:25448675). May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation (PubMed:25448675)., [UniProtKB]; May be involved in regulation of cell migration. May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation., [UniProtKB, UniProtKB, UniProtKB]; We conclude that integrative variants, haplotypes and diplotypes of the CAPN3 rs4344713 and FRMD5 rs524908, as well as DBP and BMI are associated with serum lipid variables in the Jing and Han populations. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8NBG4", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0019901 protein kinase binding;GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005912 adherens junction;GO:0016020 membrane", "go_biological_process": "GO:0045785 positive regulation of cell adhesion;GO:0031032 actomyosin structure organization;GO:0030334 regulation of cell migration;GO:2000146 negative regulation of cell motility", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q7Z6J6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RQ1-1", "uniprot_id": [ { "id": "ERGI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RQ1", "type": "external" } ], "mass": 42549.0, "length": 377, "protein_name": "Endoplasmic reticulum-Golgi intermediate compartment protein 2", "gene_name": "ERGIC2", "organism": "Human", "refseq_name": "endoplasmic reticulum-Golgi intermediate compartment protein 2", "refseq_ac": [ { "id": "NP_057654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057654", "type": "external" } ], "gene_names_uniprotkb": "ERGIC2; CDA14; ERV41; PTX1", "gene_names_refseq": "CDA14; ERGIC2; Erv41; PTX1; cd002", "protein_names_uniprotkb": "Endoplasmic reticulum-Golgi intermediate compartment protein 2", "protein_names_refseq": "CD14 protein; endoplasmic reticulum-Golgi intermediate compartment protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51290)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;11445006;12932305;15308636;16989575;17980171;19413330;23584533;24190977;24303950;24715725;25576301;25802875;25813380;25892735;26154972;26992070;27397612;27600516;27846572;28228285;28832583;28834231;28904123;29242379;29314611;29393594;29557506;29769354;30315122;30410026;30459171;30524438;30779550;31142615;31217245;31222486;31844290;32157095;32350084;32357974;32897882;32938616;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34357683;34509645;34932366;35051231;35580925;36010968;36241641;36284347;36581221;37074911;38665916;40307207", "class_list": "", "function": "A variant of ERGIC2 with four coding bases deleted has an abrogated function as a transport shuttle, but does continue to upregulate the heme oxygenase 1 gene, suggesting that it may be involved in the oxidative stress pathway., [RefSeq, PubMed]; CDA14 participated in the elongation factor 1alpha regulated mechanisms, [RefSeq, PubMed]; ERGIC-32 functions as a modulator of the hErv41-hErv46 complex by stabilizing hErv46, [RefSeq, PubMed]; ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]., [RefSeq]; Ectopic expression of a partial sequence of PTX1 (Met84 - Leu225) as a VP22-fusion protein in prostate cancer cell line, PC-3, induced cellular senescence., [RefSeq, PubMed]; May play an important role in the growth and tumorigenicity of PC-3 prostate tumor cells, [RefSeq, PubMed]; Plays a role in transport between endoplasmic reticulum and Golgi., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Possible role in transport between endoplasmic reticulum and Golgi., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NHH6;Q53GY2;Q8N2Q9;Q9BVV9;Q9NZA3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q96RQ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5M775-1", "uniprot_id": [ { "id": "CYTSB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5M775", "type": "external" } ], "mass": 118585.0, "length": 1068, "protein_name": "Cytospin-B", "gene_name": "SPECC1", "organism": "Human", "refseq_name": "cytospin-B isoform 1", "refseq_ac": [ { "id": "NP_001028725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028725", "type": "external" } ], "gene_names_uniprotkb": "SPECC1; CYTSB; NSP5", "gene_names_refseq": "CYTSB; HCMOGT-1; HCMOGT1; NSP5; NSP; SPECC1", "protein_names_uniprotkb": "Cytospin-B; NSP5; Nuclear structure protein 5; Sperm antigen HCMOGT-1; Sperm antigen with calponin homology and coiled-coil domains 1", "protein_names_refseq": "cytokinesis and spindle organization B; cytospin-B isoform 1; cytospin-B; nuclear structure protein 5; sperm antigen HCMOGT-1; sperm antigen with calponin-like and coiled coil domains 1; structure protein NSP5a3a; structure protein NSP5a3b; structure protein NSP5b3a; structure protein NSP5b3b", "tax_id": 9606, "disease": "", "pathway": " (hsa:92521)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15087372;15602574;17081983;18212344;18491316;18669648;19413330;19651622;19664994;19664995;20068231;20237420;21311098;22170762;23186163;23970830;25807930;25880248;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28832583;29242379;29437277;29557506;29786170;30379171;30429286;30484775;31154438;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33968037;34171305;34509645;35051231;35580925;36010968;36215666", "class_list": "", "function": "Loss of NSP 5a3a is associated with head and neck carcinoma., [RefSeq, PubMed]; NSP 5a3a induces apoptosis in Head and Neck cell line HN30 through p73-DAXX and TRAF2-TRADD., [RefSeq, PubMed]; NSP 5a3a's novel interaction with B23 and ribonuclear protein hnRNP-L implicates NSP 5a3a in cellular processes such as ribosome biogenesis and rRNA transcription ., [RefSeq, PubMed]; PCR and fluoresecne in situ hybridization shows that HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2)., [RefSeq, PubMed]; The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 46, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DHH0;B7WNS8;Q5IBP1;Q5IBP2;Q5IBP3;Q5IBP4;Q5M772;Q5M773;Q5M774;Q86XT8;Q8N4U4;Q8WU84;Q9HCQ3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0045177 apical part of cell;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q5M775-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92800-1", "uniprot_id": [ { "id": "EZH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92800", "type": "external" } ], "mass": 85271.0, "length": 747, "protein_name": "Histone-lysine N-methyltransferase EZH1", "gene_name": "EZH1", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase EZH1 isoform 4", "refseq_ac": [ { "id": "NP_001308010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308010", "type": "external" } ], "gene_names_uniprotkb": "EZH1; KIAA0388", "gene_names_refseq": "EZH1; KMT6B", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase EZH1; 2.1.1.356; ENX-2; Enhancer of zeste homolog 1", "protein_names_refseq": "ENX-2; enhancer of zeste homolog 1; histone-lysine N-methyltransferase EZH1 isoform 4; histone-lysine N-methyltransferase EZH1", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888)", "pathway": " (hsa:2145); (R-HSA-212300)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "11237011;12351676;12435631;15099518;16357870;16431907;18974356;19026781;19571010;20075857;20123894;20937877;20974918;21170310;22323599;22466170;23326524;23431328;23481700;23679895;24074865;24715725;25645385;25880248;26375851;26992070;27862975;28218747;28228285;28514659;28832583;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29790264;30315122;30429286;30923826;31086175;31451685;31844290;31848261;31998317;32157095;32161166;32387766;32502341;32938616;32983136;33298915;33691108;34932366;35051231;35580925;36010968;36476271;37433783;38309675;38554427;7490091;8921387;9473645", "class_list": "", "function": "Clinical Significance of Upregulation of EZH1 Expression in Hepatocellular Carcinoma Tissues. Publication Status: Online-Only, [RefSeq, PubMed]; EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009]., [RefSeq]; Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation., [UniProtKB, PubMed]; The competitive mechanism of EZH1 and EZH2 in promoting oral squamous cell carcinoma., [RefSeq, PubMed]; The role of EZH1 and EZH2 in development and cancer. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NCH6;B4DIJ1;B4DIZ7;B4DSS2;B4E3R7;O43287;Q14459;Q53XP3", "ec_number_list": [ { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003714 transcription corepressor activity;GO:0031491 nucleosome binding;GO:0016279 protein-lysine N-methyltransferase activity;GO:0046976 histone H3K27 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035098 ESC/E(Z) complex;GO:0000792 heterochromatin;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0031509 subtelomeric heterochromatin formation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q92800-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08477-1", "uniprot_id": [ { "id": "CP4F3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08477", "type": "external" } ], "mass": 59847.0, "length": 520, "protein_name": "Cytochrome P450 4F3", "gene_name": "CYP4F3", "organism": "Human", "refseq_name": "cytochrome P450 4F3 isoform a", "refseq_ac": [ { "id": "NP_000887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000887", "type": "external" } ], "gene_names_uniprotkb": "CYP4F3; LTB4H", "gene_names_refseq": "CPF3; CYP4F3; CYP4F; CYPIVF3; LTB4H", "protein_names_uniprotkb": "Cytochrome P450 4F3; 1.14.14.1; 1.14.14.79; 1.14.14.94; 20-HETE synthase; 20-hydroxyeicosatetraenoic acid synthase; CYPIVF3; Cytochrome P450-LTB-omega; Docosahexaenoic acid omega-hydroxylase CYP4F3; Leukotriene-B(4) 20-monooxygenase 2; Leukotriene-B(4) omega-hydroxylase 2", "protein_names_refseq": "20-HETE synthase; 20-hydroxyeicosatetraenoic acid synthase; cytochrome P-450; cytochrome P450 4F3 isoform a; cytochrome P450 4F3; cytochrome P450, family 4, subfamily F, polypeptide 3; cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase); cytochrome P450-LTB-omega; docosahexaenoic acid omega-hydroxylase CYP4F3; leukotriene-B(4) 20-monooxygenase 2; leukotriene-B(4) omega-hydroxylase 2; leukotriene-B4 20-monooxygenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:4051); (R-HSA-211935); (R-HSA-211958); (R-HSA-211979); (R-HSA-2142691)", "pathway_count": 5, "publication_count": 76, "publication_id_list": "10064732;10405341;10409674;10779545;10791960;11160876;11162607;11237011;11461919;11844797;12711469;1359745;14660610;15006160;15145985;15364545;15548719;15604543;16436457;16547005;16677611;16795963;16820285;18065749;18182499;18184802;1848634;18577768;18647347;19743890;20436887;21447318;22706230;23076889;24406470;27046942;2753893;2768222;28150878;2836406;2864155;2866075;2877850;2882965;28991856;29133059;29557506;2995393;3006030;3020588;30669;31154438;3118366;3164719;33091337;33392160;35051231;35580925;3563417;3933675;6122208;6293969;6490615;7937884;8052639;8394361;8486631;8576264;8631948;8913342;8914854;9461497;9539102;9600267;9675028;9799565", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and their oxygenated derivatives (oxylipins) (PubMed:11461919, PubMed:15145985, PubMed:16547005, PubMed:16820285, PubMed:18065749, PubMed:18182499, PubMed:18577768, PubMed:8486631, PubMed:9675028). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:9675028). May play a role in inactivation of pro-inflammatory and anti-inflammatory oxylipins during the resolution of inflammation (PubMed:11461919, PubMed:15145985, PubMed:15364545, PubMed:16547005, PubMed:16820285, PubMed:18065749, PubMed:18182499, PubMed:18577768, PubMed:8486631, PubMed:9675028)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of oxylipins in myeloid cells, displaying higher affinity for arachidonate metabolite leukotriene B4 (LTB4) (PubMed:11461919, PubMed:15364545, PubMed:8486631, PubMed:9675028). Inactivates LTB4 via three successive oxidative transformations to 20-hydroxy-LTB4, then to 20-oxo-LTB4 and to 20-carboxy-LTB4 (PubMed:9675028). Has omega-hydroxylase activity toward long-chain fatty acid epoxides with preference for 8,9-epoxy-(5Z,11Z,14Z)-eicosatrienoate (EET) and 9,10-epoxyoctadecanoate (PubMed:15145985). Omega-hydroxylates monohydroxy polyunsaturated fatty acids (PUFAs), including hydroxyeicosatetraenoates (HETEs) and hydroxyeicosapentaenoates (HEPEs), to dihydroxy compounds (PubMed:15364545, PubMed:9675028). Contributes to the degradation of saturated very long-chain fatty acids (VLCFAs) such as docosanoic acid, by catalyzing successive omega-oxidations to the corresponding dicarboxylic acid, thereby initiating chain shortening (PubMed:18182499). Has low hydroxylase activity toward PUFAs (PubMed:11461919, PubMed:18577768)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of polyunsaturated fatty acids (PUFAs) (PubMed:11461919, PubMed:16820285, PubMed:18577768). Participates in the conversion of arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE), a signaling molecule acting both as vasoconstrictive and natriuretic with overall effect on arterial blood pressure (PubMed:11461919, PubMed:16820285, PubMed:18577768). Has high omega-hydroxylase activity toward other PUFAs, including eicosatrienoic acid (ETA), eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) (PubMed:16820285, PubMed:18577768). Can also catalyze the oxidation of the penultimate carbon (omega-1 oxidation) of PUFAs with lower efficiency (PubMed:18577768). Contributes to the degradation of saturated very long-chain fatty acids (VLCFAs) such as docosanoic acid and hexacosanoic acid, by catalyzing successive omega-oxidations to the corresponding dicarboxylic acids, thereby initiating chain shortening (PubMed:16547005, PubMed:18182499). Omega-hydroxylates long-chain 3-hydroxy fatty acids, likely initiating the oxidative conversion to the corresponding 3-hydroxydicarboxylic fatty acids (PubMed:18065749). Has omega-hydroxylase activity toward long-chain fatty acid epoxides with preference for 8,9-epoxy-(5Z,11Z,14Z)-eicosatrienoate (EET) and 9,10-epoxyoctadecanoate (PubMed:15145985)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Children who consumed a higher dietary ratio of omega6/omega3 were susceptible for Crohn's disease if they were also carriers of specific variants of CYP4F3 and FADS2 genes., [RefSeq, PubMed]; High n3:n6 polyunsaturated fatty acids (PUFA) intake was associated with a reduced risk of ulcerative colitis (UC) in individuals with the GG/AG genotype at a single nucleotide polymorphism in CYP4F3 but not those with the AA genotype. The association between dietary n3:n6 PUFA intake and risk of UC may be modified variants at CYP4F3., [RefSeq, PubMed]; In this short review, emphasis will be placed on the regulation and the functional roles of human CYP4F3--{REVIEW} Review article Publication Status: Online-Only, [RefSeq, PubMed]; The results suggest that a potentially functional single-nucleotide polymorphisms in CYP4F3 (rs4646904) may contribute to the etiology of lung cancer, especially in smokers., [RefSeq, PubMed]; This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2019]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z8Z3;O60634;Q5U740", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "1.14.14.177", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.177", "type": "external" }, { "id": "1.14.14.130", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.130", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0004497 monooxygenase activity;GO:0050051 leukotriene-B4 20-monooxygenase activity;GO:0052869 arachidonate omega-hydroxylase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006690 icosanoid metabolic process;GO:0097267 omega-hydroxylase P450 pathway;GO:0010430 fatty acid omega-oxidation;GO:0006691 leukotriene metabolic process;GO:0042376 phylloquinone catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q08477-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60667-1", "uniprot_id": [ { "id": "FCMR_HUMAN", "url": "https://www.uniprot.org/uniprot/O60667", "type": "external" } ], "mass": 43146.0, "length": 390, "protein_name": "Immunoglobulin mu Fc receptor", "gene_name": "FCMR", "organism": "Human", "refseq_name": "immunoglobulin mu Fc receptor isoform b", "refseq_ac": [ { "id": "NP_001135945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135945", "type": "external" } ], "gene_names_uniprotkb": "FCMR; FAIM3; TOSO", "gene_names_refseq": "FAIM3; FCMR; FcmuR; IgM FcR; TOSO", "protein_names_uniprotkb": "Immunoglobulin mu Fc receptor; FAIM3; Fas apoptotic inhibitory molecule 3; IgM FcR; Regulator of Fas-induced apoptosis Toso", "protein_names_refseq": "Fas apoptotic inhibitory molecule 3; Fc fragment of IgM receptor; IgM Fc fragment receptor; IgM Fc receptor; immunoglobulin mu Fc receptor isoform b; immunoglobulin mu Fc receptor; regulator of Fas-induced apoptosis Toso", "tax_id": 9606, "disease": "", "pathway": " (hsa:9214)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;17553462;18434611;18708628;19858324;21654843;21908424;21908732;22675200;23481700;24714562;24715725;25502872;25505266;25548167;25576301;25601920;25888699;25892735;26154972;26992070;27846572;27862975;27920218;28063628;28228285;28230186;28467828;28514659;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30459171;30524438;30573663;30840890;31530632;31844290;31998317;32157095;32350084;32502341;32572908;32784334;32897882;32983136;33091337;33298915;33717175;33936100;34078123;34209905;34357683;34932366;35051231;35154160;35580925;36284347;36581221;36949194;37095205;37217939;9586636", "class_list": "", "function": "Association with unmutated IgV(H) and the specific induction of TOSO via the BCR suggest autoreactive BCR signaling as a key mediator of apoptosis resistance in CLL. Erratum:[Blood. 2018 May 17;131(20):2272. doi: 10.1182/blood-2018-04-843490. PMID: 29773545], [RefSeq, PubMed]; Demonstrated a 5.6-fold increase of TOSO protein in circulating CLL cells and lymph nodes, [RefSeq, PubMed]; Differences between Human and Mouse IgM Fc Receptor (FcmicroR). Publication Status: Online-Only, [RefSeq, PubMed]; Enzymatically modified-LDL-generated foam cells are protected from cell death most likely through the expression of TOSO by a FLIP(L) independent mechanism, [RefSeq, PubMed]; Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010]., [RefSeq]; High-affinity Fc receptor for immunoglobulin M (IgM), both secreted and membrane-bound IgM (PubMed:19858324, PubMed:22675200, PubMed:36949194, PubMed:37095205). Primarily regulates IgM transport and homeostasis. In lymphoid cells, enables exocytosis of membrane-bound IgM on the plasma membrane as well as endocytosis of IgM-antigen complexes toward lysosomes for degradation. In mucosal epithelium, mediates retrotranscytosis of antigen-IgM complexes across mucosal M cells toward antigen-presenting cells in mucosal lymphoid tissues (PubMed:21908732, PubMed:28230186). Triggers costimulatory signaling and mediates most of IgM effector functions involved in B cell development and primary immune response to infection. Likely limits tonic IgM BCR signaling to self-antigens for proper negative selection of autoreactive B cells in the bone marrow and for the maintenance of regulatory B cell pool in peripheral lymphoid organs. Mediates antibody responses to T cell-dependent and T cell-independent antigens and promotes induction of an efficient neutralizing IgG response. Engages in cross-talk with antigen-receptor signaling via the non-canonical NF-kappa-B, MAP kinases and calcium signaling pathways (PubMed:19858324, PubMed:22675200, PubMed:25601920, PubMed:30840890)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TGIF2 promotes cervical cancer metastasis by negatively regulating FCMR., [RefSeq, PubMed]; TOSO interacts with SYK and enhances BCR pathway activation in chronic lymphocytic leukemia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7J2;B7Z6Z0;D9MWM3", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0001791 IgM binding;GO:0002172 high-affinity IgM receptor activity;GO:0001790 polymeric immunoglobulin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0002414 immunoglobulin transcytosis in epithelial cells;GO:0007165 signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0002455 humoral immune response mediated by circulating immunoglobulin;GO:0006968 cellular defense response", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "O60667-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2D4-1", "uniprot_id": [ { "id": "EXC6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2D4", "type": "external" } ], "mass": 94201.0, "length": 811, "protein_name": "Exocyst complex component 6B", "gene_name": "EXOC6B", "organism": "Human", "refseq_name": "exocyst complex component 6B isoform 2", "refseq_ac": [ { "id": "NP_056004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056004", "type": "external" } ], "gene_names_uniprotkb": "EXOC6B; KIAA0919; SEC15B; SEC15L2", "gene_names_refseq": "EXOC6B; SEC15B; SEC15L2; SEMDJL3", "protein_names_uniprotkb": "Exocyst complex component 6B; Exocyst complex component Sec15B; SEC15-like protein 2", "protein_names_refseq": "SEC15 homolog B; SEC15-like protein 2; exocyst complex component 6B isoform 2; exocyst complex component Sec15B", "tax_id": 9606, "disease": "spondyloepimetaphyseal dysplasia with joint laxity type 3 (Disease Ontology:DOID:0112200)", "pathway": " (hsa:23233)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;11406615;18424204;22433857;23481700;25576301;25645385;26669664;26992070;28904123;29557506;30284759;30429286;30779550;30833945;31154438;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32938616;33006481;33141586;33298915;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34509645;35051231;35318648;35580925;36010968;36150098;36215666;37938771", "class_list": "", "function": "Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. Review article, [RefSeq, PubMed]; CircEXOC6B Suppresses the Proliferation and Motility and Sensitizes Ovarian Cancer Cells to Paclitaxel Through miR-376c-3p/FOXO3 Axis., [RefSeq, PubMed]; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Data suggest that the Rabin8-Rab8-Sec15 interaction may couple the activation of Rab8 to the recruitment of the Rab8 effector and is involved in the regulation of vesicular trafficking for primary cilium formation., [RefSeq, PubMed]; TNS3-EXOC6B and EXOC6B-TNS3 fusion transcripts are detected in a premature male newborn with a complex multisystemic phenotype associated with a balanced translocation., [RefSeq, PubMed]; This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B8ZZY3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0000145 exocyst", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0000281 mitotic cytokinesis;GO:0006887 exocytosis;GO:0006893 Golgi to plasma membrane transport;GO:0090148 membrane fission", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9Y2D4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0X4-1", "uniprot_id": [ { "id": "F234A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0X4", "type": "external" } ], "mass": 59660.0, "length": 552, "protein_name": "Protein FAM234A", "gene_name": "FAM234A", "organism": "Human", "refseq_name": "protein FAM234A", "refseq_ac": [ { "id": "NP_001271426", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271426", "type": "external" } ], "gene_names_uniprotkb": "FAM234A; C16orf9; ITFG3", "gene_names_refseq": "C16orf9; FAM234A; ITFG3; gs19", "protein_names_uniprotkb": "Protein FAM234A; Protein ITFG3", "protein_names_refseq": "integrin alpha FG-GAP repeat containing 3; protein FAM234A; protein ITFG3", "tax_id": 9606, "disease": "", "pathway": " (hsa:83986)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;19159218;19349973;19651622;20166139;23481700;24190977;24715725;25502872;25645385;28467828;28855257;29237092;29242379;29314611;29557506;29632711;29741879;30573663;30626607;31530632;31844290;32350084;32488085;32502341;32938616;33592498;33912179;33936100;34171305;34357683;35051231;35154160;35251023;35580925;37074911;37217939;40596516", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 19, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "D3DU45;Q7L416;Q96FR1;Q96MC7;Q96S30", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9H0X4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PZ2-1", "uniprot_id": [ { "id": "F111A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PZ2", "type": "external" } ], "mass": 70196.0, "length": 611, "protein_name": "Serine protease FAM111A", "gene_name": "FAM111A", "organism": "Human", "refseq_name": "serine protease FAM111A", "refseq_ac": [ { "id": "NP_001135991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135991", "type": "external" } ], "gene_names_uniprotkb": "FAM111A; KIAA1895", "gene_names_refseq": "FAM111A; GCLEB; KCS2", "protein_names_uniprotkb": "Serine protease FAM111A; 3.4.21.-", "protein_names_refseq": "family with sequence similarity 111 member A; protein FAM111A; serine protease FAM111A", "tax_id": 9606, "disease": "Kenny-Caffey syndrome type 2 (Disease Ontology:DOID:0080723); Kenny-Caffey syndrome (Disease Ontology:DOID:0080724); osteocraniostenosis (MONDO:MONDO:0011215)", "pathway": " (hsa:63901)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;23093934;23186163;23481700;23684011;23996431;24561620;24635597;24714562;24715725;25576301;25892735;26375851;26728094;26992070;27846572;28228285;28832583;28834231;28904123;29242379;29493099;29557506;29769354;30315122;30379171;30429286;30779550;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32165630;32265295;32387766;32502341;32897882;33298915;33369867;33392160;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35561310;35580925;36241641;36284347;37607234;37793778;38474092", "class_list": "", "function": "FAM111A appears to be crucial to a pathway that governs parathyroid hormone production, calcium homeostasis, and skeletal development and growth., [RefSeq, PubMed]; FAM111A functions as a host range restriction factor that is specifically targeted by SV40 large T antigen, [RefSeq, PubMed]; FAM111A is a replication factor required for PCNA loading., [RefSeq, PubMed]; FAM111A regulates replication origin activation and cell fitness. Publication Status: Online-Only, [RefSeq, PubMed]; Single-stranded DNA-binding serine protease that mediates the proteolytic cleavage of covalent DNA-protein cross-links (DPCs) during DNA synthesis, thereby playing a key role in maintaining genomic integrity (PubMed:32165630). DPCs are highly toxic DNA lesions that interfere with essential chromatin transactions, such as replication and transcription, and which are induced by reactive agents, such as UV light or formaldehyde (PubMed:32165630). Protects replication fork from stalling by removing DPCs, such as covalently trapped topoisomerase 1 (TOP1) adducts on DNA lesion, or poly(ADP-ribose) polymerase 1 (PARP1)-DNA complexes trapped by PARP inhibitors (PubMed:32165630). Required for PCNA loading on replication sites (PubMed:24561620). Promotes S-phase entry and DNA synthesis (PubMed:24561620). Also acts as a restriction factor for some viruses including SV40 polyomavirus and vaccinia virus (PubMed:23093934, PubMed:37607234). Mechanistically, affects nuclear barrier function during viral replication by mediating the disruption of the nuclear pore complex (NPC) via its protease activity (PubMed:33369867, PubMed:37607234). In turn, interacts with vaccinia virus DNA-binding protein OPG079 in the cytoplasm and promotes its degradation without the need of its protease activity but through autophagy (PubMed:37607234)., [UniProtKB, PubMed, PubMed, PubMed]; Study would provide evidence that FAM111A is a key molecule for normal bone development, height gain, and parathyroid hormone development and/or regulation, [RefSeq, PubMed]; The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]., [RefSeq]; Together, these data suggest that FAM111A may also be important in the development and function of male genitalia. 394, [RefSeq, PubMed]; Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5Y8;Q5RKS9;Q5XKM2;Q68DK9;Q6IPR7;Q9H5Y1", "ec_number_list": [], "go_molecular_function": "GO:0003697 single-stranded DNA binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006508 proteolysis;GO:0045071 negative regulation of viral genome replication;GO:0006260 DNA replication;GO:0006974 DNA damage response;GO:0016540 protein autoprocessing", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96PZ2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8M9-1", "uniprot_id": [ { "id": "EVA1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8M9", "type": "external" } ], "mass": 17470.0, "length": 152, "protein_name": "Protein eva-1 homolog A", "gene_name": "EVA1A", "organism": "Human", "refseq_name": "protein eva-1 homolog A", "refseq_ac": [ { "id": "NP_001128504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128504", "type": "external" } ], "gene_names_uniprotkb": "EVA1A; FAM176A; SP24; TMEM166", "gene_names_refseq": "EVA1A; FAM176A; TMEM166", "protein_names_uniprotkb": "Protein eva-1 homolog A; Protein FAM176A; Transmembrane protein 166", "protein_names_refseq": "family with sequence similarity 176, member A; protein FAM176A; protein eva-1 homolog A; transmembrane protein 166", "tax_id": 9606, "disease": "", "pathway": " (hsa:84141); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15498874;15525596;15642270;17047378;17249697;17312271;17492404;17985932;18578522;19029833;19651622;19664994;20058876;22495369;23098460;2476804;2479552;25645385;26091039;27600516;29242379;29557506;32157095;32938616;33592498;33968037;34357683;36078115;36273122;36794585;38734302;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis., [UniProtKB, PubMed, PubMed]; Down-regulation of EVA1A by miR-103a-3p promotes hepatocellular carcinoma cells proliferation and migration. Publication Status: Online-Only, [RefSeq, PubMed]; EVA1A (Eva-1 Homolog A) Promotes Endothelial Apoptosis and Inflammatory Activation Under Disturbed Flow Via Regulation of Autophagy. Erratum:[Arterioscler Thromb Vasc Biol. 2023 Jun;43(6):e230. doi: 10.1161/ATV.0000000000000163. PMID: 37224275], [RefSeq, PubMed]; Increased TMEM166 Level in Patients with Postoperative Stroke after Carotid Endarterectomy., [RefSeq, PubMed]; Low TMEM166 mRNA and protein expression is associated with esophageal squamous cell carcinoma., [RefSeq, PubMed]; TMEM166 expression was widely down-regulated in the cancer tissues., [RefSeq, PubMed]; TMEM166 is a novel regulator involved in both autophagy and apoptosis., [RefSeq, PubMed]; The Degradation of TMEM166 by Autophagy Promotes AMPK Activation to Protect SH-SY5Y Cells Exposed to MPP(). Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6W5J3;Q9HC41", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0006915 apoptotic process;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9H8M9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5XG92-1", "uniprot_id": [ { "id": "EST4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5XG92", "type": "external" } ], "mass": 63529.0, "length": 561, "protein_name": "Carboxylesterase 4A", "gene_name": "CES4A", "organism": "Human", "refseq_name": "carboxylesterase 4A isoform 3", "refseq_ac": [ { "id": "NP_001177130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177130", "type": "external" } ], "gene_names_uniprotkb": "CES4A; CES8; PRO873", "gene_names_refseq": "CES4A; CES6; CES8", "protein_names_uniprotkb": "Carboxylesterase 4A; 3.1.1.-", "protein_names_refseq": "carboxylesterase 4A isoform 3; carboxylesterase 6; carboxylesterase 8 (putative)", "tax_id": 9606, "disease": "", "pathway": " (hsa:283848)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12975309;24714562;28411811;29242379;37074911;38253038", "class_list": "", "function": "Probable carboxylesterase., [UniProtKB]; This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8KAJ6;B7Z349;B7Z3L2;B7Z6R3;Q6UX55;Q8N9F4", "ec_number_list": [], "go_molecular_function": "GO:0106435 carboxylesterase activity;GO:0016787 hydrolase activity;GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q5XG92-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFA2-1", "uniprot_id": [ { "id": "NOXO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFA2", "type": "external" } ], "mass": 41253.0, "length": 376, "protein_name": "NADPH oxidase organizer 1", "gene_name": "NOXO1", "organism": "Human", "refseq_name": "NADPH oxidase organizer 1 isoform d", "refseq_ac": [ { "id": "NP_001254650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254650", "type": "external" } ], "gene_names_uniprotkb": "NOXO1; P41NOX; SH3PXD5", "gene_names_refseq": "NOXO1; P41NOXA; P41NOXB; P41NOXC; P41NOX; SH3PXD5; SNX28", "protein_names_uniprotkb": "NADPH oxidase organizer 1; NADPH oxidase regulatory protein; Nox organizer 1; Nox-organizing protein 1; SH3 and PX domain-containing protein 5", "protein_names_refseq": "NADPH oxidase organizer 1 isoform d; NADPH oxidase regulatory protein; Nox organizer 1; SH3 and PX domain-containing protein 5; nox-organizing protein 1; regulatory protein P41NOX", "tax_id": 9606, "disease": "", "pathway": " (hsa:124056); (R-HSA-5668599); (R-HSA-9013149); (R-HSA-9013423); (R-HSA-9673324)", "pathway_count": 5, "publication_count": 290, "publication_id_list": "10072071;10232922;10400704;10455184;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10698942;10699171;10699464;10871633;10873802;10958683;11007481;11058585;11085924;11090627;11101902;11145705;11149925;11237011;11358862;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11751577;11756552;11773441;11779461;11803464;11804587;11804589;11804590;11884391;11912491;11956649;11961559;12015986;12056906;12071859;12093360;12096337;12097334;12195014;12221096;12351724;12432077;12473664;12531887;12533515;12546821;12547822;12650940;12657628;12665586;12716910;12857875;12877655;12923183;14512443;14514689;14530365;14617635;14636582;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15143170;15147912;15181005;15302923;15326186;15339924;15342493;15485661;15507211;15579468;15591124;15601624;15608632;15611138;15728722;15824103;15850391;15858067;15897194;15936275;15949904;16002401;16112081;16116428;16184169;16243036;16329988;16473593;16492808;16507994;16519628;1660188;16636067;16702231;16762923;16777452;16777849;16778989;16862148;16896804;16914516;16968698;17077126;17126813;17130287;17145773;17196961;17214551;17244649;17583407;17599059;17627283;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18653540;18697831;18719708;18793328;18838382;19269969;19365405;19372727;19494238;19534724;19605563;19673492;19713215;19755710;19934221;20006983;20400958;20457807;20460433;20609497;20679435;20810653;20813901;20956805;21148482;21239714;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22808130;22970203;23109420;23209303;23255595;23288169;23289851;23396967;23434736;23572525;23707487;23718289;23821037;23875749;23940355;23957209;23980663;24086303;24259668;24335996;24352656;24859002;24865425;24933155;24960694;25024229;25211221;25428919;25704760;25721503;25795300;25862245;25877926;26129894;26529257;26628301;26887924;27117132;27145964;27216196;27481945;27555588;27558335;27566826;27713499;27806292;28114311;28196833;28356423;29089502;29358323;29382922;30853411;31848261;31871319;32161166;32203420;34742871;35051231;36902094;38015525;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8089108;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8947551;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9520479;9582072;9659915;9670022;9674432;9716412;9792683;9804763;9822598;9843499;9988689", "class_list": "", "function": "CYLD destabilizes NoxO1 protein by promoting ubiquitination and regulates prostate cancer progression., [RefSeq, PubMed]; Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Isoform 3 is more potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DNA methylation of ICAM4 and NOXO1 participate in the formation of uterine fibroids via regulating immune cell infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest different tissue localizations and functions for NOXO1beta and NOXO1gamma in regulating Nox family members., [RefSeq, PubMed]; NOXO1 and NOXA1 activate Nox1 without the need for agonist activation, and this is mediated in part by binding of the NOXO1 PX domain to membrane lipids., [RefSeq, PubMed]; NOXO1, p47phox, and p67phox regulate Nox3, [RefSeq, PubMed]; Overexpression of a Novel Noxo1 Mutant Increases Ros Production and Noxo1 Relocalisation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q86YM1;Q8NFA3;Q96B73", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0019899 enzyme binding;GO:0035091 phosphatidylinositol binding;GO:0016176 superoxide-generating NADPH oxidase activator activity", "go_cellular_component": "GO:0043020 NADPH oxidase complex;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0022617 extracellular matrix disassembly;GO:0042554 superoxide anion generation;GO:0010310 regulation of hydrogen peroxide metabolic process;GO:0060263 regulation of respiratory burst", "synthesized_glycan_count": 0, "hit_score": 29.1, "record_id": "Q8NFA2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q71RH2-1", "uniprot_id": [ { "id": "TLC3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q71RH2", "type": "external" } ], "mass": 30629.0, "length": 274, "protein_name": "Ceramide synthase", "gene_name": "TLCD3B", "organism": "Human", "refseq_name": "ceramide synthase isoform 2", "refseq_ac": [ { "id": "NP_001305433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305433", "type": "external" } ], "gene_names_uniprotkb": "TLCD3B; FAM57B; FP1188", "gene_names_refseq": "CORD22; FAM57B; FP1188; TLCD3B", "protein_names_uniprotkb": "Ceramide synthase; 2.3.1.-; Protein FAM57B; TLC domain-containing protein 3B", "protein_names_refseq": "TLC domain 3B; TLC domain ceramide synthase 3B; TLC domain-containing protein 3B; ceramide synthase isoform 2; epididymis secretory sperm binding protein; family with sequence similarity 57 member B; protein FAM57B", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); cone-rod dystrophy 22 (Disease Ontology:DOID:0081448)", "pathway": " (hsa:83723)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11230166;11237011;15498874;31154438;33077892", "class_list": "", "function": "Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy., [RefSeq, PubMed]; Involved in ceramide synthesis., [UniProtKB]; This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9H0J1", "ec_number_list": [ { "id": "2.3.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.24", "type": "external" }, { "id": "2.3.1.299", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.299", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.291", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.291", "type": "external" }, { "id": "2.3.1.297", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.297", "type": "external" } ], "go_molecular_function": "GO:0050291 sphingosine N-acyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0046513 ceramide biosynthetic process;GO:0055088 lipid homeostasis", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q71RH2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZPD9-1", "uniprot_id": [ { "id": "D19L3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZPD9", "type": "external" } ], "mass": 83197.0, "length": 716, "protein_name": "Protein C-mannosyl-transferase DPY19L3", "gene_name": "DPY19L3", "organism": "Human", "refseq_name": "protein C-mannosyl-transferase DPY19L3", "refseq_ac": [ { "id": "NP_001166245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166245", "type": "external" } ], "gene_names_uniprotkb": "DPY19L3", "gene_names_refseq": "DPY19L3", "protein_names_uniprotkb": "Protein C-mannosyl-transferase DPY19L3; 2.4.1.-; Dpy-19-like protein 3; Protein dpy-19 homolog 3", "protein_names_refseq": "dpy-19 like 3; dpy-19-like 3; dpy-19-like protein 3; probable C-mannosyltransferase DPY19L3; protein C-mannosyl-transferase DPY19L3; protein dpy-19 homolog 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:147991)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16526957;19488044;24190977;24715725;25576301;25645385;25892735;26154972;26764097;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;29242379;29393594;29405629;29557506;29632711;29769354;30315122;30429286;31154438;31844290;31848261;32161166;32488085;32938616;33592498;33717175;33968037;34087483;35051231;35580925;36581221;37074911;38560568", "class_list": "glycogene;glycosyltransferase", "function": "C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. The reaction occurs on the luminal side of the endoplasmic reticulum and involves the transfer of a mannose unit from a dolichylphosphate mannose (Dol-P-Man) donor to an acceptor protein containing a WxxW or WxxC consensus sequence (PubMed:26764097, PubMed:29405629). C-mannosylates RSPO1, a Wnt signaling regulator, preferentially at the first Trp residue in the sequence WxxW (PubMed:26764097, PubMed:29405629). C-mannosylates the netrin receptor UNC5A, preferentially at the third tryptophan of WxxWxxWxxC sequence (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; DPY19L3 is the C-mannosyltransferase of Rspo1 at tryptophan(156)., [RefSeq, PubMed]; DPY19L3 promotes vasculogenic mimicry by its C-mannosyltransferase activity. Publication Status: Online-Only, [RefSeq, PubMed]; Data indicate that N-glycosylations of C-mannosyltransferase DPY19L3 (DPY19L3) do not have any roles for its enzymatic activity., [RefSeq, PubMed]; Has no C-mannosyltransferase activity., [UniProtKB, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 753, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q68DC7;Q6ZTB7;Q6ZTS2", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0000030 mannosyltransferase activity;GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q6ZPD9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000100000000.110.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZV7-1", "uniprot_id": [ { "id": "ZIM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZV7", "type": "external" } ], "mass": 61164.0, "length": 527, "protein_name": "Zinc finger imprinted 2", "gene_name": "ZIM2", "organism": "Human", "refseq_name": "zinc finger imprinted 2 isoform b", "refseq_ac": [ { "id": "NP_001139798", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139798", "type": "external" } ], "gene_names_uniprotkb": "ZIM2; ZNF656", "gene_names_refseq": "ZIM2; ZNF656", "protein_names_uniprotkb": "Zinc finger imprinted 2; Zinc finger protein 656", "protein_names_refseq": "zinc finger imprinted 2 isoform b; zinc finger protein 656", "tax_id": 9606, "disease": "", "pathway": " (hsa:23619); (R-HSA-212436)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10235266;10330177;10708526;11237011;11395415;14519192;15175151;15203203;15896744;16606702;16719718;2163759;29557506;33968037;8183939;8769649;9637681;9653119", "class_list": "", "function": "In human, ZIM2 and PEG3 (GeneID:5178) are two distinct genes that share a set of 5' exons and have a common promoter, and both genes are paternally expressed. Alternative splicing events connect the shared exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. This is in contrast to mouse and cow, where ZIM2 and PEG3 genes do not share exons in common, and the imprinting status of ZIM2 is also not conserved amongst mammals. Additional 5' alternatively spliced transcripts encoding the same protein have been found for the human ZIM2 gene. [provided by RefSeq, Oct 2010]., [RefSeq]; May be involved in transcriptional regulation., [UniProtKB]; ZIM2 gene, like the co-transcribed PEG3 gene, is imprinted in human, with preferential expression from the paternal allele. The imprinting status of ZIM2 is not conserved among mammals., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2M3K1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9NZV7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HD1-1", "uniprot_id": [ { "id": "CREL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HD1", "type": "external" } ], "mass": 45440.0, "length": 420, "protein_name": "Protein disulfide isomerase CRELD1", "gene_name": "CRELD1", "organism": "Human", "refseq_name": "protein disulfide isomerase CRELD1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001026887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026887", "type": "external" } ], "gene_names_uniprotkb": "CRELD1; CIRRIN; PRO214", "gene_names_refseq": "AVSD2; CIRRIN; CRELD1; JELANS", "protein_names_uniprotkb": "Protein disulfide isomerase CRELD1; 5.3.4.1; Cysteine-rich with EGF-like domain protein 1", "protein_names_refseq": "cysteine rich with EGF like domains 1; protein disulfide isomerase CRELD1 isoform 1 precursor; protein disulfide isomerase CRELD1", "tax_id": 9606, "disease": "atrioventricular septal defect (Disease Ontology:DOID:0050651); heart septal defect (Disease Ontology:DOID:1681); atrioventricular septal defect, susceptibility to, 2 (MONDO:MONDO:0011650); Jeffries-Lakhani neurodevelopmental syndrome (MONDO:MONDO:0958329)", "pathway": " (hsa:78987)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;12137942;12632326;12975309;15857420;23027870;25576301;26992070;27600516;28832583;28834231;28904123;29054759;29242379;30429286;31154438;31844290;32502341;32938616;33592498;33968037;34171305;34411563;34509645;35051231;35289036;36929416;37074911;37938771;37947183;38665916", "class_list": "", "function": "Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections., [RefSeq, PubMed]; CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome., [RefSeq, PubMed]; Missense mutations in this protein are associated with cardiac atrioventricular septal defects., [RefSeq, PubMed]; Protein disulfide isomerase (By similarity). Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Protein disulfide isomerase. Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients., [RefSeq, PubMed]; This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8MX90;B2RAA9;Q6I9X5;Q8NFT4;Q9Y409", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0003756 protein disulfide isomerase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0016020 membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0003197 endocardial cushion development;GO:0003279 cardiac septum development", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q96HD1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WZ74-1", "uniprot_id": [ { "id": "CTTB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WZ74", "type": "external" } ], "mass": 181051.0, "length": 1663, "protein_name": "Cortactin-binding protein 2", "gene_name": "CTTNBP2", "organism": "Human", "refseq_name": "cortactin-binding protein 2 isoform 1", "refseq_ac": [ { "id": "NP_219499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_219499", "type": "external" } ], "gene_names_uniprotkb": "CTTNBP2; C7orf8; CORTBP2; KIAA1758", "gene_names_refseq": "C7orf8; CORTBP2; CTTNBP2; Orf4", "protein_names_uniprotkb": "Cortactin-binding protein 2; CortBP2", "protein_names_refseq": "CORTBP2, C7orf8; cortactin-binding protein 2 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83992)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11707066;15364959;18491316;19413330;19664994;21406692;23186163;24928895;27600516;28832583;29242379;29351928;29393594;29557506;29786170;30429286;31154438;31848261;32157095;32161166;32488085;33392160;33691108;35051231;35251023;35580925", "class_list": "", "function": "CORTBP2 (CTTNBP2) has a transcription-dependent spatial arrangement., [RefSeq, PubMed]; Cttnbp2 increases microtubule stability and regulates dendritic arborization., [RefSeq, PubMed]; Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, and thus controls dendritic spinogenesis and dendritic spine maintenance. Associates with the striatin-interacting phosphatase and kinase (STRIPAK) core complex to regulate dendritic spine distribution of the STRIPAK complex in hippocampal neurons., [UniProtKB, UniProtKB]; This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O43389;Q7LG11;Q9C0A5", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098871 postsynaptic actin cytoskeleton;GO:0005938 cell cortex;GO:0043197 dendritic spine;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0050807 regulation of synapse organization;GO:1905274 regulation of modification of postsynaptic actin cytoskeleton", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8WZ74-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43414-1", "uniprot_id": [ { "id": "ERI3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43414", "type": "external" } ], "mass": 37238.0, "length": 337, "protein_name": "ERI1 exoribonuclease 3", "gene_name": "ERI3", "organism": "Human", "refseq_name": "ERI1 exoribonuclease 3 isoform 2", "refseq_ac": [ { "id": "NP_001288627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288627", "type": "external" } ], "gene_names_uniprotkb": "ERI3; PINT1; PRNPIP1; PRNPIP", "gene_names_refseq": "ERI3; PINT1; PRNPIP", "protein_names_uniprotkb": "ERI1 exoribonuclease 3; 3.1.-.-; Prion interactor 1; Prion protein-interacting protein", "protein_names_refseq": "ERI1 exoribonuclease 3 isoform 2; ERI1 exoribonuclease 3; enhanced RNAi three prime mRNA exonuclease homolog 3; prion interactor 1; prion protein-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79033)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;19913121;20628086;22424782;22544926;23481700;24715725;25418920;25505266;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27600516;28218747;28228285;28514659;28832583;28834231;28904123;29123232;29242379;29437277;29493099;29508533;29557506;29769354;29786170;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31937595;31998317;32157095;32161166;32357974;32387766;32897882;32938616;33141586;33298915;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34561969;35051231;35154160;35580925;36010968;36215666;36241641;37938771", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The conclude of this study that the particular LINE-1 element within the ERI3 gene does not associate with the schizophrenia phenotype in European Americans., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AK98;Q5T2T7;Q5T2T9;Q5TG35;Q9BQA0;Q9UEB4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0000175 3'-5'-RNA exonuclease activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0000467 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0060906 negative regulation of regulatory ncRNA-mediated heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O43414-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36955-1", "uniprot_id": [ { "id": "PEDF_HUMAN", "url": "https://www.uniprot.org/uniprot/P36955", "type": "external" } ], "mass": 46312.0, "length": 418, "protein_name": "Pigment epithelium-derived factor", "gene_name": "SERPINF1", "organism": "Human", "refseq_name": "pigment epithelium-derived factor isoform 1 precursor", "refseq_ac": [ { "id": "NP_001316832", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316832", "type": "external" } ], "gene_names_uniprotkb": "SERPINF1; PEDF; PIG35", "gene_names_refseq": "EPC-1; OI12; OI6; PEDF; PIG35; SERPINF1", "protein_names_uniprotkb": "Pigment epithelium-derived factor; Cell proliferation-inducing gene 35 protein; EPC-1; PEDF; Serpin F1", "protein_names_refseq": "cell proliferation-inducing gene 35 protein; pigment epithelium-derived factor isoform 1 precursor; pigment epithelium-derived factor; serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1; serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1; testis tissue sperm-binding protein Li 70n", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); osteogenesis imperfecta type 6 (Disease Ontology:DOID:0110350); retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); portal hypertension (Disease Ontology:DOID:10762); anogenital venereal wart (Disease Ontology:DOID:11168); corneal neovascularization (Disease Ontology:DOID:11382); sciatic neuropathy (Disease Ontology:DOID:11446); leukostasis (Disease Ontology:DOID:12986); retinopathy of prematurity (Disease Ontology:DOID:13025); uveitis (Disease Ontology:DOID:13141); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); venous tributary occlusion of retina (Disease Ontology:DOID:13514); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); toxic shock syndrome (Disease Ontology:DOID:14115); Parkinson's disease (Disease Ontology:DOID:14330); retinal vein occlusion (Disease Ontology:DOID:1727); nephroblastoma (Disease Ontology:DOID:2154); transient cerebral ischemia (Disease Ontology:DOID:224); central retinal vein occlusion (Disease Ontology:DOID:2450); endometriosis (Disease Ontology:DOID:289); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); osteosarcoma (Disease Ontology:DOID:3347); middle cerebral artery infarction (Disease Ontology:DOID:3525); lung non-small cell carcinoma (Disease Ontology:DOID:3908); macular degeneration (Disease Ontology:DOID:4448); macular retinal edema (Disease Ontology:DOID:4449); brain edema (Disease Ontology:DOID:4724); melioidosis (Disease Ontology:DOID:5052); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425); hepatocellular carcinoma (Disease Ontology:DOID:684); retinoblastoma (Disease Ontology:DOID:768); retinal degeneration (Disease Ontology:DOID:8466); chronic fatigue syndrome (Disease Ontology:DOID:8544); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5176)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "10.1101/2023.09.13.557529;10398730;11237011;11562499;12737624;15374885;16335952;17032652;17081065;19139490;19159218;19838169;21081667;21353196;21697133;22028381;22905912;24279413;27056980;28218747;28514659;29391424;29557506;29632711;29741879;30379171;30459171;31844290;32157095;32350084;32357974;32387766;32502341;32983136;33298915;33392160;33912179;33968037;35051231;35251023;35494241;35580925;36284347;37074911;38338974;38488028;38665916;38870625;7592790;8226833;8434014;8473338;9238088", "class_list": "", "function": "Acute-Phase Plasma Pigment Epithelium-Derived Factor Predicting Outcomes after Aneurysmal Subarachnoid Hemorrhage in the Elderly. Publication Status: Online-Only, [RefSeq, PubMed]; Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity., [UniProtKB, PubMed, PubMed]; Pigment epithelium-derived factor expression and role in follicular development., [RefSeq, PubMed]; Pigment epithelium-derived factor inhibits proliferation, invasion and angiogenesis, and induces ferroptosis of extravillous trophoblasts by targeting Wnt-beta-catenin/VEGF signaling in placenta accreta spectrum., [RefSeq, PubMed]; Six rare heterozygous SERPINF1 variants were found in seven patients in our familial otosclerosis cohort; three are missense mutations predicted to be deleterious to protein function, [RefSeq, PubMed]; This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 57, "disease_count": 42, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "F1T092;Q13236;Q2TU83;Q96CT1;Q96R01;Q9BWA4", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0046685 response to arsenic-containing substance;GO:0010629 negative regulation of gene expression;GO:0010976 positive regulation of neuron projection development;GO:0071300 cellular response to retinoic acid;GO:0071333 cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "P36955-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVH0-1", "uniprot_id": [ { "id": "EXD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVH0", "type": "external" } ], "mass": 70353.0, "length": 621, "protein_name": "Exonuclease 3'-5' domain-containing protein 2", "gene_name": "EXD2", "organism": "Human", "refseq_name": "exonuclease 3'-5' domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001180289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180289", "type": "external" } ], "gene_names_uniprotkb": "EXD2; C14orf114; EXDL2", "gene_names_refseq": "C14orf114; EXD2; EXDL2", "protein_names_uniprotkb": "Exonuclease 3'-5' domain-containing protein 2; 3'-5' exoribonuclease EXD2; 3.1.11.1; 3.1.13.-; Exonuclease 3'-5' domain-like-containing protein 2", "protein_names_refseq": "3'-5' exoribonuclease EXD2; exonuclease 3'-5' domain-containing protein 2 isoform 1; exonuclease 3'-5' domain-containing protein 2; exonuclease 3'-5' domain-like 2; exonuclease 3'-5' domain-like-containing protein 2", "tax_id": 9606, "disease": "Werner syndrome (Disease Ontology:DOID:5688)", "pathway": " (hsa:55218)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;20603073;25576301;25645385;26375851;26807646;26992070;27846572;28510447;28832583;28834231;29335528;29393594;29493099;29557506;29599527;30429286;30524438;31127291;31154438;31255466;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33091337;33717175;33968037;33981976;35051231;35580925;36284347;37938771", "class_list": "", "function": "EXD2 deficiency leads to fork collapse, hypersensitivity to replication inhibitors, and genomic instability. Impeding fork regression by inactivation of SMARCAL1 or removal of RECQ1's inhibition in EXD2(-/-) cells restores efficient fork restart and genome stability. Moreover, purified EXD2 efficiently processes substrates mimicking regressed forks., [RefSeq, PubMed]; EXD2 is anchored to the mitochondrial outer membrane through a conserved N-terminal transmembrane domain, while the C-terminal region is cytosolic. Crystal structures of the exonuclease domain in complex with Mn2+/Mg2+ revealed a domain-swapped dimer in which the central alpha5-alpha7 helices are mutually crossed over, resulting in chimeric active sites., [RefSeq, PubMed]; EXD2 re-locates to the nucleus following double-strand breaks and thus is unlikely to have a direct role in nuclear DNA repair. Knockdown or overexpression of EXD2 affects the cellular distribution of mitochondria. Publication Status: Online-Only, [RefSeq, PubMed]; Establish that EXD2 stimulates both short- and long-range DSB resection, [RefSeq, PubMed]; Exonuclease that has both 3'-5' exoribonuclease and exodeoxyribonuclease activities, depending on the divalent metal cation used as cofactor (PubMed:29335528, PubMed:31127291). In presence of Mg(2+), only shows 3'-5' exoribonuclease activity, while it shows both exoribonuclease and exodeoxyribonuclease activities in presence of Mn(2+) (PubMed:29335528, PubMed:31127291). Acts as an exoribonuclease in mitochondrion, possibly by regulating ATP production and mitochondrial translation (PubMed:29335528). Also involved in the response to DNA damage (PubMed:26807646, PubMed:31255466). Acts as 3'-5' exodeoxyribonuclease for double-strand breaks resection and efficient homologous recombination (PubMed:20603073, PubMed:26807646). Plays a key role in controlling the initial steps of chromosomal break repair, it is recruited to chromatin in a damage-dependent manner and functionally interacts with the MRN complex to accelerate resection through its 3'-5' exonuclease activity, which efficiently processes double-stranded DNA substrates containing nicks (PubMed:26807646). Also involved in response to replicative stress: recruited to stalled forks and is required to stabilize and restart stalled replication forks by restraining excessive fork regression, thereby suppressing their degradation (PubMed:31255466)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DIH6;G5E947;Q6AWB6;Q8N3D3", "ec_number_list": [], "go_molecular_function": "GO:0008296 3'-5'-DNA exonuclease activity;GO:0008310 single-stranded DNA 3'-5' DNA exonuclease activity;GO:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006302 double-strand break repair;GO:0000724 double-strand break repair via homologous recombination;GO:0000729 DNA double-strand break processing;GO:0031297 replication fork processing;GO:0090304 nucleic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9NVH0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5PLN7-1", "uniprot_id": [ { "id": "F149A_HUMAN", "url": "https://www.uniprot.org/uniprot/A5PLN7", "type": "external" } ], "mass": 82698.0, "length": 773, "protein_name": "Protein FAM149A", "gene_name": "FAM149A", "organism": "Human", "refseq_name": "protein FAM149A isoform 1", "refseq_ac": [ { "id": "NP_001006656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006656", "type": "external" } ], "gene_names_uniprotkb": "FAM149A; MST119", "gene_names_refseq": "FAM149A; MST119; MSTP119", "protein_names_uniprotkb": "Protein FAM149A", "protein_names_refseq": "protein FAM149A isoform 1; protein FAM149A", "tax_id": 9606, "disease": "", "pathway": " (hsa:25854)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;24715725;26600424;26992070;28832583;28834231;29393594;29557506;29632046;30429286;31154438;32983136;34087483;34303830;35051231", "class_list": "", "function": "In total, 270,389 single nucleotide polymorphisms passed quality control, and 4 SNPs in the FAM149A gene were associated with Acute Mountain Sickness; however, in the validation cohorts, FAM149A was not associated with the presence or severity of AMS., [RefSeq, PubMed]; Whole exome sequencing identified FAM149A as a plausible causative gene for congenital hereditary endothelial dystrophy, affecting Nrf2-Antioxidant signaling upon oxidative stress., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5MDB8;Q2TAN6;Q7Z2S5;Q9Y4T9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "A5PLN7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14677-1", "uniprot_id": [ { "id": "EPN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14677", "type": "external" } ], "mass": 68259.0, "length": 625, "protein_name": "Clathrin interactor 1", "gene_name": "CLINT1", "organism": "Human", "refseq_name": "clathrin interactor 1 isoform 1", "refseq_ac": [ { "id": "NP_001182484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182484", "type": "external" } ], "gene_names_uniprotkb": "CLINT1; ENTH; EPN4; EPNR; KIAA0171", "gene_names_refseq": "CLINT1; CLINT; ENTH; EPN4; EPNR", "protein_names_uniprotkb": "Clathrin interactor 1; Clathrin-interacting protein localized in the trans-Golgi region; Clint; Enthoprotin; Epsin-4; Epsin-related protein; EpsinR", "protein_names_refseq": "clathrin interacting protein localized in the trans-Golgi region; clathrin interactor 1 isoform 1; enthoprotin; epsin 4; epsin-related protein; epsinR", "tax_id": 9606, "disease": "", "pathway": " (hsa:9685); (R-HSA-432722); (R-HSA-9918476)", "pathway_count": 3, "publication_count": 141, "publication_id_list": "10.1101/2023.09.13.557529;10394364;11237011;11590181;11604418;11694590;11994746;12213833;12429846;12538641;12589059;14665628;15068792;15102850;15793701;16155256;17081983;17116749;17287340;17924679;18033301;18318008;18669648;18691976;19413330;19651622;19690332;19901323;20068231;20166139;21406692;22645359;23186163;24275569;24715725;25576301;25645385;25810538;25880248;26154972;26375851;26811146;26992070;27503676;27600516;27862975;27920218;28218747;28228285;28510447;28514659;28649982;28657654;28832583;28904123;29093164;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30059200;30315122;30397120;30410026;30429286;30524438;30620550;30779550;30833945;31092671;31154438;31217245;31222486;31373491;31492838;31530632;31844290;31848261;31998317;32119511;32157095;32350084;32357974;32387766;32488085;32574038;32897882;32938616;32983136;33043033;33123756;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35132862;35138101;35251023;35254053;35318648;35452674;35513511;35580925;35705054;36010968;36241641;36284347;37938771;38665916;38838015;39531497;39534244;40307207;40596516;8374173;8524399;8670264", "class_list": "", "function": "A novel clathrin-associated protein identified through subcellular proteomics; data suggest a role in clathrin-mediated budding on internal membranes, [RefSeq, PubMed]; Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly., [UniProtKB, PubMed, PubMed]; EpsinR is an ENTH domain-containing protein that interacts with AP-1 Erratum:[Mol Biol Cell. 2003 Apr;14(4):following 1743], [RefSeq, PubMed]; Might participate in the formation of clathrin-coated vesicles at the level of the trans-Golgi network and remains associated with the vesicles longer than clathrin and adaptors, [RefSeq, PubMed]; Our work reveals the existence of clathrin-independent and -dependent transport steps in the retrograde route, and establishes a function for clathrin and epsinR at the endosome-TGN interface., [RefSeq, PubMed]; The cargo adapter protein CLINT1 is phosphorylated by the Numb-associated kinase BIKE and mediates dengue virus infection., [RefSeq, PubMed]; This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6F8;D3DQJ6;Q8NAF1;Q96E05", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0045296 cadherin binding;GO:0030276 clathrin binding", "go_cellular_component": "GO:0030125 clathrin vesicle coat;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0048268 clathrin coat assembly", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "Q14677-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75354-1", "uniprot_id": [ { "id": "ENTP6_HUMAN", "url": "https://www.uniprot.org/uniprot/O75354", "type": "external" } ], "mass": 53246.0, "length": 484, "protein_name": "Ectonucleoside triphosphate diphosphohydrolase 6", "gene_name": "ENTPD6", "organism": "Human", "refseq_name": "ectonucleoside triphosphate diphosphohydrolase 6 isoform 4", "refseq_ac": [ { "id": "NP_001309308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309308", "type": "external" } ], "gene_names_uniprotkb": "ENTPD6; CD39L2; IL6ST2", "gene_names_refseq": "CD39L2; ENTPD6; IL-6SAG; IL6ST2; NTPDase-6; dJ738P15.3", "protein_names_uniprotkb": "Ectonucleoside triphosphate diphosphohydrolase 6; 3.6.1.6; CD39 antigen-like 2; NTPDase 6", "protein_names_refseq": "CD39 antigen-like 2; NTPDase 6; ectonucleoside triphosphate diphosphohydrolase 6 (putative); ectonucleoside triphosphate diphosphohydrolase 6 isoform 4; interleukin 6 signal transducer-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:955); (R-HSA-8850843)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10400613;10470077;10510450;10681547;10866813;10948193;11041856;11041857;11237011;11278936;11927941;11929769;12694193;12888562;14529283;14675084;15122917;15130768;16338080;17095758;17502665;18404504;18404510;19007248;19640930;19913121;20628086;20682839;21074248;21586362;22169232;23241884;23481700;23584533;25576301;25645385;25813380;26154972;26992070;27600516;27846572;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29508533;29557506;30459171;30484775;31611695;31844290;31998317;32157095;32350084;32387766;32488085;32502341;32938616;32983136;33141586;33592498;33912179;33936100;33968037;33981976;34171305;34357683;34405274;35051231;35154160;35251023;35580925;37340703;8955160;8995405;9364474;9556635;9675246;9676430", "class_list": "", "function": "A secondary structural model of NTPDase-6 is proposed based on disulfide architecture (four conserved cysteine residues Cys249-Cys280 and Cys340-Cys354, circular dichroism data, and regions of conservation among all NTPDases., [RefSeq, PubMed]; Catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner. Has a strong preference for nucleoside diphosphates, preferentially hydrolyzes GDP, IDP, and UDP, with slower hydrolysis of CDP, ITP, GTP, CTP, ADP, and UTP and virtually no hydrolysis of ATP (PubMed:10948193, PubMed:11041856, PubMed:14529283). The membrane bound form might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides (PubMed:10948193, PubMed:11041856, PubMed:14529283)., [UniProtKB, PubMed, PubMed, PubMed]; ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [RefSeq]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A6NCX6;D3DW49;Q5QPJ2;Q5QPJ5;Q7Z5B5;Q8N3H3;Q8TAS7;Q9UJD1", "ec_number_list": [ { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.64", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0004382 GDP phosphatase activity;GO:0045134 UDP phosphatase activity;GO:0008894 guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity;GO:0017110 nucleoside diphosphate phosphatase activity;GO:0017111 ribonucleoside triphosphate phosphatase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0051592 response to calcium ion;GO:0032026 response to magnesium ion", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "O75354-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRY5-1", "uniprot_id": [ { "id": "F1142_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRY5", "type": "external" } ], "mass": 55468.0, "length": 505, "protein_name": "Protein FAM114A2", "gene_name": "FAM114A2", "organism": "Human", "refseq_name": "protein FAM114A2 isoform 2", "refseq_ac": [ { "id": "NP_001304924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304924", "type": "external" } ], "gene_names_uniprotkb": "FAM114A2; C5orf3", "gene_names_refseq": "133K02; C5orf3; FAM114A2", "protein_names_uniprotkb": "Protein FAM114A2", "protein_names_refseq": "protein FAM114A2 isoform 2; protein FAM114A2; testis tissue sperm-binding protein Li 81P", "tax_id": 9606, "disease": "", "pathway": " (hsa:10827); (R-HSA-6802952)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;10843801;11237011;15630448;18974108;19690332;20068231;20526349;21424530;21654843;22745804;23186163;23583981;24135138;24275569;24345920;25204415;25907612;26992070;28832583;28904123;29242379;29557506;29786170;30315122;30429286;30468480;31154438;31217245;31844290;32157095;32387766;32897882;32938616;32983136;33298915;34087483;34357683;34509645;34725712;35051231;35251023;35580925;37217939;38665916;39302247;40914422", "class_list": "", "function": "MiR-497 was down-regulated in squamous cell carcinoma tissues and cells, which can inhibit the expression of FAM114A2 and regulate tumor cell proliferation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R8D8;Q9H7E0", "ec_number_list": [], "go_molecular_function": "GO:0017076 purine nucleotide binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9NRY5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16452-1", "uniprot_id": [ { "id": "EPB42_HUMAN", "url": "https://www.uniprot.org/uniprot/P16452", "type": "external" } ], "mass": 77009.0, "length": 691, "protein_name": "Protein 4.2", "gene_name": "EPB42", "organism": "Human", "refseq_name": "protein 4.2 isoform 1", "refseq_ac": [ { "id": "NP_000110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000110", "type": "external" } ], "gene_names_uniprotkb": "EPB42; E42P", "gene_names_refseq": "EPB42; PA; SPH5", "protein_names_uniprotkb": "Protein 4.2; Erythrocyte membrane protein band 4.2; Erythrocyte protein 4.2; P4.2", "protein_names_refseq": "P4.2; erythrocyte protein 4.2; erythrocyte surface protein band 4.2; protein 4.2 isoform 1", "tax_id": 9606, "disease": "hereditary spherocytosis type 1 (Disease Ontology:DOID:0110916); hereditary spherocytosis type 5 (Disease Ontology:DOID:0110920); hereditary spherocytosis (Disease Ontology:DOID:12971)", "pathway": " (hsa:2038)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10406914;11237011;1544941;1558976;1689063;18984734;19269200;20007969;2052563;21039340;2300550;28411811;29557506;31998317;35051231;35835865;36284347;7772513;7819064;8499466;8547071;8547605", "class_list": "", "function": "Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane., [UniProtKB, PubMed]; Current understanding of protein 4.2, its known interactions & implications of protein 4.2 deficiency are reviewed. A new speculative 'open' homology structure for the the active, membrane associated form is proposed. Review. Review article, [RefSeq, PubMed]; Data suggest that one or both of proteins 4.1 and 4.2 cause a portion of band 3 to localize near the spectrin-actin junctions and provide another point of attachment between the membrane skeleton and the lipid bilayer., [RefSeq, PubMed]; Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Study shows that cytoplasmic hereditary spherocytosis mutants cause impaired binding of protein 4.2 to AE1, leaving protein 4.2 susceptible to loss during erythrocyte development, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q4KKX0;Q4VB97", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding;GO:0003810 protein-glutamine gamma-glutamyltransferase activity", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0030863 cortical cytoskeleton;GO:0170014 ankyrin-1 complex", "go_biological_process": "GO:0043249 erythrocyte maturation;GO:0008360 regulation of cell shape;GO:0018149 peptide cross-linking", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P16452-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T036-1", "uniprot_id": [ { "id": "F120S_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T036", "type": "external" } ], "mass": 27929.0, "length": 256, "protein_name": "Uncharacterized protein FAM120AOS", "gene_name": "FAM120AOS", "organism": "Human", "refseq_name": "uncharacterized protein FAM120AOS isoform 1", "refseq_ac": [ { "id": "NP_942138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_942138", "type": "external" } ], "gene_names_uniprotkb": "FAM120AOS; C9orf10OS", "gene_names_refseq": "C9orf10OS; FAM120AOS", "protein_names_uniprotkb": "Uncharacterized protein FAM120AOS; FAM120A opposite strand protein", "protein_names_refseq": "FAM120A opposite strand protein; family with sequence similarity 120A opposite strand; uncharacterized protein FAM120AOS isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:158293)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;28832583;30379171;32157095;34171305;35494241;39894887", "class_list": "", "function": "Differences in the expression level of this gene are associated with the survival rate of those with glioma. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NN20", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q5T036-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L0X2-1", "uniprot_id": [ { "id": "ERIP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L0X2", "type": "external" } ], "mass": 75255.0, "length": 663, "protein_name": "Glutamate-rich protein 6", "gene_name": "ERICH6", "organism": "Human", "refseq_name": "glutamate-rich protein 6 isoform 2", "refseq_ac": [ { "id": "NP_001295163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295163", "type": "external" } ], "gene_names_uniprotkb": "ERICH6; C3orf44; FAM194A", "gene_names_refseq": "C3orf44; ERICH6A; ERICH6; FAM194A", "protein_names_uniprotkb": "Glutamate-rich protein 6; Protein FAM194A", "protein_names_refseq": "family with sequence similarity 194, member A; glutamate-rich 6A; glutamate-rich protein 6 isoform 2; glutamate-rich protein 6; protein FAM194A", "tax_id": 9606, "disease": "", "pathway": " (hsa:131831)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;19240061;30379171;31429579;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N9Y8;Q8NCQ6;Q8NCZ6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q7L0X2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14786-1", "uniprot_id": [ { "id": "NRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14786", "type": "external" } ], "mass": 103134.0, "length": 923, "protein_name": "Neuropilin-1", "gene_name": "NRP1", "organism": "Human", "refseq_name": "neuropilin-1 isoform b precursor", "refseq_ac": [ { "id": "NP_001019799", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019799", "type": "external" } ], "gene_names_uniprotkb": "NRP1; NRP; VEGF165R", "gene_names_refseq": "BDCA4; CD304; NP1; NRP1; NRP; VEGF165R", "protein_names_uniprotkb": "Neuropilin-1; Vascular endothelial cell growth factor 165 receptor", "protein_names_refseq": "neuropilin-1 isoform b precursor; transmembrane receptor; vascular endothelial cell growth factor 165 receptor", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); Alzheimer's disease (Disease Ontology:DOID:10652); retinal vein occlusion (Disease Ontology:DOID:1727); transient cerebral ischemia (Disease Ontology:DOID:224); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); tetralogy of Fallot (Disease Ontology:DOID:6419); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:8829); (R-HSA-194306); (R-HSA-376176); (R-HSA-399954); (R-HSA-399955); (R-HSA-399956); (R-HSA-445144); (R-HSA-447041); (R-HSA-9694614)", "pathway_count": 9, "publication_count": 154, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10075701;10102266;10102268;10520995;10559936;10611478;10679438;10688880;10748121;10818153;10842181;10892742;10934324;11237011;11276226;11278319;11278486;11375980;11604131;11756651;11948691;11986311;12093729;12372285;12422220;12456642;12508280;12517344;14685275;14718570;15010527;15063764;15140961;15163706;15474033;15597056;15652488;15676027;16286926;16335952;16763549;16930978;16962401;17253643;17565045;17607942;17607944;17989695;18222703;18446792;18555990;18578522;19159218;19805273;20375348;21068237;21306301;21325420;22177953;22496216;22816037;2295682;23090970;23105391;23584533;23954936;24190977;24227843;25576301;26311884;26503042;26789244;26953343;26992070;27277342;27452731;27550352;27798666;27846572;29391424;29557506;29671580;29741879;29769354;30429286;30459171;30623799;31420553;31844290;32125455;32125861;32142651;32157095;32179150;32362314;32488085;32512386;32532959;32653452;32703818;32938616;32970989;32983136;32995803;33000221;33043033;33082293;33082294;33298900;33493182;33493263;33494095;33554856;33592498;33774649;33968037;34023935;34159616;34171305;34179075;34235261;34235568;34324210;34431042;34510494;34542788;34561887;34611326;34732583;34742300;34782609;34929169;35051231;35318648;35343766;35580925;36010968;36213313;36284347;37074911;37938771;38324585;38665916;38674009;39010661;39138514;8388392;8509458;8592152;9288753;9396761;9529250", "class_list": "", "function": "(Microbial infection) Acts as a host factor for human coronavirus SARS-CoV-2 infection. Recognizes and binds to CendR motif RRAR on SARS-CoV-2 spike protein S1 which enhances SARS-CoV-2 infection., [UniProtKB, PubMed, PubMed]; Binds VEGF-165 and may inhibit its binding to cells (PubMed:10748121, PubMed:26503042). May induce apoptosis by sequestering VEGF-165 (PubMed:10748121). May bind as well various members of the semaphorin family. Its expression has an averse effect on blood vessel number and integrity., [UniProtKB, PubMed, PubMed]; Cell-surface receptor involved in the development of the cardiovascular system, in angiogenesis, in the formation of certain neuronal circuits and in organogenesis outside the nervous system. Mediates the chemorepulsant activity of semaphorins (PubMed:10688880, PubMed:9288753, PubMed:9529250). Recognizes a C-end rule (CendR) motif R/KXXR/K on its ligands which causes cellular internalization and vascular leakage (PubMed:19805273). It binds to semaphorin 3A, the PLGF-2 isoform of PGF, the VEGF165 isoform of VEGFA and VEGFB (PubMed:10688880, PubMed:19805273, PubMed:9288753, PubMed:9529250). Coexpression with KDR results in increased VEGF165 binding to KDR as well as increased chemotaxis. Regulates VEGF-induced angiogenesis. Binding to VEGFA initiates a signaling pathway needed for motor neuron axon guidance and cell body migration, including for the caudal migration of facial motor neurons from rhombomere 4 to rhombomere 6 during embryonic development (By similarity). Regulates mitochondrial iron transport via interaction with ABCB8/MITOSUR (PubMed:30623799)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; DNA G-Quadruplex in NRP1 Promoter Facilitates SARS-CoV-2 Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Neuropilin-1 Protein May Serve as a Receptor for SARS-CoV-2 Infection: Evidence from Molecular Dynamics Simulations., [RefSeq, PubMed]; Neuropilin-1 is a host factor for SARS-CoV-2 infection., [RefSeq, PubMed]; The SEMA3F-NRP1/NRP2 axis is a key factor in the acquisition of invasive traits in in situ breast ductal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. This protein has also been determined to act as a co-receptor for SARS-CoV-2 (which causes COVID-19) to infect host cells. [provided by RefSeq, Nov 2020]., [RefSeq]; Trafficking dynamics of VEGFR1, VEGFR2, and NRP1 in human endothelial cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 1, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 59, "disease_count": 8, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "B0LPG9;O60461;Q5T7F1;Q5T7F2;Q5T7F3;Q86T59;Q96I90;Q96IH5", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008201 heparin binding;GO:0015026 coreceptor activity;GO:0019838 growth factor binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0002116 semaphorin receptor complex;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0097102 endothelial tip cell fate specification;GO:0097490 sympathetic neuron projection extension;GO:0097491 sympathetic neuron projection guidance;GO:0097475 motor neuron migration;GO:0001525 angiogenesis", "synthesized_glycan_count": 0, "hit_score": 23.2, "record_id": "O14786-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100110011001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LI9-1", "uniprot_id": [ { "id": "CX058_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LI9", "type": "external" } ], "mass": 38899.0, "length": 332, "protein_name": "Uncharacterized protein CXorf58", "gene_name": "CXorf58", "organism": "Human", "refseq_name": "uncharacterized protein CXorf58 isoform 2", "refseq_ac": [ { "id": "NP_001163045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163045", "type": "external" } ], "gene_names_uniprotkb": "CXorf58", "gene_names_refseq": "CXorf58", "protein_names_uniprotkb": "Uncharacterized protein CXorf58", "protein_names_refseq": "uncharacterized protein CXorf58 isoform 2; uncharacterized protein CXorf58", "tax_id": 9606, "disease": "", "pathway": " (hsa:254158)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;30379171;30620550", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96LI9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92817-1", "uniprot_id": [ { "id": "EVPL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92817", "type": "external" } ], "mass": 231604.0, "length": 2033, "protein_name": "Envoplakin", "gene_name": "EVPL", "organism": "Human", "refseq_name": "envoplakin isoform 1", "refseq_ac": [ { "id": "NP_001307676", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307676", "type": "external" } ], "gene_names_uniprotkb": "EVPL", "gene_names_refseq": "EVPK; EVPL", "protein_names_uniprotkb": "Envoplakin; 210 kDa cornified envelope precursor protein; 210 kDa paraneoplastic pemphigus antigen; p210", "protein_names_refseq": "210 kDa cornified envelope precursor protein; 210 kDa paraneoplastic pemphigus antigen; envoplakin isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2125); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10066784;10196183;10231017;10409435;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18767875;18843291;19190773;19194479;19691289;20068231;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22360420;23186163;23629652;25576301;25926655;26390218;27207655;27427435;29242379;29557506;29786170;30397120;31492838;32157095;32265295;32387766;32488085;32938616;33691108;33968037;34087483;34171305;34509645;34694419;35051231;35318648;35494241;35580925;36284347;37217939;7543090;8707850;8824274;8999895;9395522;9565599", "class_list": "", "function": "A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration., [RefSeq, PubMed]; Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments., [UniProtKB, UniProtKB, UniProtKB]; Frequency of Envoplakin and Type VII Collagen Autoantibodies and Co-occurrence with Other Skin-specific Autoantibodies in HIV-infected Patients and Uninfected Controls. Publication Status: Online-Only, [RefSeq, PubMed]; N-terminus extremities of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus, [RefSeq, PubMed]; This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]., [RefSeq]; We confirmed associations with papillary thyroid cancer and SNPs in FOXE1/HEMGN, SERPINA5 (rs2069974), FTO (rs8047395), EVPL (rs2071194), TICAM1 (rs8120) and SCARB1 (rs11057820) genes. We found associations with SNPs in FOXE1, SERPINA5, FTO, TICAM1 and HSPA6 and and follicular thyroid cancer, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AUV5", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0045111 intermediate filament cytoskeleton", "go_biological_process": "GO:0031424 keratinization;GO:0008544 epidermis development;GO:0030216 keratinocyte differentiation;GO:0018149 peptide cross-linking;GO:0042060 wound healing", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q92817-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H201-1", "uniprot_id": [ { "id": "EPN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H201", "type": "external" } ], "mass": 68222.0, "length": 632, "protein_name": "Epsin-3", "gene_name": "EPN3", "organism": "Human", "refseq_name": "epsin-3", "refseq_ac": [ { "id": "NP_060427", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060427", "type": "external" } ], "gene_names_uniprotkb": "EPN3", "gene_names_refseq": "EPN3", "protein_names_uniprotkb": "Epsin-3; EPS-15-interacting protein 3", "protein_names_refseq": "EPS-15-interacting protein 3; epsin-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55040)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;11359770;17389395;25505266;27926932;29557506;30226603;31548259;33968037;34019948;34087483;35051231;35580925;37186036;37339783;39048677", "class_list": "", "function": "EPN3 plays oncogenic role in non-small cell lung cancer by activating the JAK1/2-STAT3 pathway., [RefSeq, PubMed]; Expression of Epsin3 and its interaction with Notch signalling in oral epithelial dysplasia and oral squamous cell carcinoma., [RefSeq, PubMed]; High expression of epsin (EPN3) was associated with increased risk of late metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Lowering expression of Epsin-3 inhibits migration and invasion of lung adenocarcinoma cells by inhibiting the epithelial-mesenchymal transition. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggested that EPN3 enhances the migration and invasion of glioblastoma cells by activating the transcription factors Slug, Twist and ZEB1, but not Snail 1 or ZEB2, to induce EMT in glioma cells; EPN3 involvement in the Notch and WNT/betacatenin signaling pathways may contribute to this process., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K6J3;A8KAB2;Q9BVN6;Q9NWK2", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0030276 clathrin binding;GO:1990175 EH domain binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0030125 clathrin vesicle coat;GO:0005634 nucleus;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit", "go_biological_process": "GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9H201-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02675-1", "uniprot_id": [ { "id": "FIBB_HUMAN", "url": "https://www.uniprot.org/uniprot/P02675", "type": "external" } ], "mass": 55928.0, "length": 491, "protein_name": "Fibrinogen beta chain", "gene_name": "FGB", "organism": "Human", "refseq_name": "fibrinogen beta chain isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_001171670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171670", "type": "external" } ], "gene_names_uniprotkb": "FGB", "gene_names_refseq": "FGB; HEL-S-78p", "protein_names_uniprotkb": "Fibrinogen beta chain", "protein_names_refseq": "beta-fibrinogen; epididymis secretory sperm binding protein Li 78p; fibrinogen beta chain isoform 2 preproprotein; fibrinogen, B beta polypeptide", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); thrombosis (Disease Ontology:DOID:0060903); cardiovascular system disease (Disease Ontology:DOID:1287); congenital afibrinogenemia (Disease Ontology:DOID:2236); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); pancreatitis (Disease Ontology:DOID:4989); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); familial dysfibrinogenemia (MONDO:MONDO:0014452)", "pathway": " (hsa:2244); (R-HSA-114608); (R-HSA-1236974); (R-HSA-166058); (R-HSA-216083); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5674135); (R-HSA-5686938); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9769733); (R-HSA-9936686)", "pathway_count": 20, "publication_count": 374, "publication_id_list": "10.1074/mcp.M114.046862;10074346;10209034;10209122;10366422;10391209;10409742;10438935;10446041;10465784;10543983;10593924;10605720;10640428;10666208;10673366;10713152;10725339;10777559;10807784;10811134;10891492;10896934;10928468;10964917;10982388;11158588;11237011;11325826;11468164;11476890;11509636;11518510;11544529;11572855;11713259;11724772;11802164;11802165;11940607;11960013;11980922;12005431;12068308;12110890;12138165;12140561;12214235;12297423;12447441;12447442;12473660;12479806;12496264;12585966;12637671;12640026;12665801;12682293;12724322;12807887;12817025;12832465;1435334;14625308;14630798;14636584;14754902;14970219;15035987;15070683;15118098;15157149;15239952;15240572;15260967;15297306;15330449;15334074;15345499;15383545;15469846;15520807;15543157;15547943;15585605;15630448;1565641;15713743;1588291;15899827;15944945;16002701;16005629;16024789;16040750;16051604;16076873;16115959;16135787;16213021;16239428;16255019;16263699;16335952;1634610;16364920;16439361;16508002;16581250;16702958;16731529;16751103;16754661;16754682;16757337;16834340;16855214;16878026;16879721;16919435;16933105;17018604;17141195;17145850;17178906;17218263;1722201;17339034;17485511;17496912;17563371;17603482;17603483;17624957;17726518;17767165;17878161;17878374;17890055;17893200;17968485;18070880;18070982;18287029;18354232;18434644;18438411;18507432;18559343;18559533;18562239;18669862;18692471;18710925;18775695;18829464;18974108;18990700;19091303;19112167;19159218;19217269;19219045;19224918;19242111;19279408;19296670;19467855;19498957;19502598;19506249;19509286;19592493;19592497;19933846;20033473;20037584;20052757;2010551;20130576;20141835;20179705;2018836;20473308;20485341;20526349;20705068;20818844;20858867;20966070;2102623;21081667;21107323;21424530;2143188;21514245;21606490;21639808;21779496;21784453;21871094;21993244;22043453;22113612;22153078;22177953;22292133;22344226;22356324;22395615;22454496;22489132;22510884;22539938;22569528;22589270;22745804;22826437;22884367;23090970;23171796;23288408;23352452;23374253;23446148;23453624;23583981;23613522;23614898;23640497;23667175;23680146;23875798;23934108;24121058;24135138;24202393;2421767;2429911;24316379;24345920;24651010;24715725;24746704;24833748;24840642;24937142;24957944;25083866;25195011;25204415;25313996;25427968;25435214;25813380;25880347;25907612;26214590;26598643;26992070;27227380;27363989;27397612;2742826;27452731;27726376;27742543;27862975;28228285;28296337;28467828;2866798;28832583;28939558;29093164;29393594;29467321;29557506;29632711;29671580;29741879;29789417;30034615;30115681;3029722;30373852;30410026;30429286;30459171;30794926;31154438;3156856;31608988;31611695;31844290;31848261;3194892;32125861;32157095;32373127;3287375;33043033;33091337;33912179;34087483;34171305;34357683;35051231;35580925;36215666;36284347;36828807;37074911;37481624;37516116;37517272;37906135;37938771;38237698;38665916;420779;6348513;6383194;6457647;6575689;6575700;6688356;7107587;7356959;7505120;7513017;7525578;7541634;7542249;7559467;7565670;7565795;7642629;7685013;7685021;7731720;7929275;7935411;7997267;8051079;8118028;8157000;8344274;8467233;8560266;8621540;8631894;8649368;8755247;8798654;8837778;8838667;8910476;891553;9008162;9020159;9251239;9333233;9351824;936108;9430229;9443892;9565552;9566877;9628725;9733512;9858236;9858547", "class_list": "", "function": "A Novel Fibrinogen Mutation p.BbetaAla68Asp Causes an Inherited Dysfibrinogenemia. Erratum:[Hamostaseologie. 2023 Dec;43(6):e1. doi: 10.1055/a-2218-6919. PMID: 38096836], [RefSeq, PubMed]; Association between fibrinogen level and length of stay in patients with lower extremity atherosclerotic disease: a retrospective cohort study. Publication Status: Online-Only, [RefSeq, PubMed]; Association between lipoprotein(a) and ischemic stroke: Fibrinogen as a mediator., [RefSeq, PubMed]; Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways., [UniProtKB, UniProtKB]; The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020]., [RefSeq]; [Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG gene]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 7, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 124, "disease_count": 12, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A0JLR9;B2R7G3;Q32Q65;Q3KPF2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0051087 protein-folding chaperone binding;GO:0005198 structural molecule activity;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0045087 innate immune response;GO:0051592 response to calcium ion;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0007160 cell-matrix adhesion;GO:0050714 positive regulation of protein secretion", "synthesized_glycan_count": 0, "hit_score": 50.9, "record_id": "P02675-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95571-1", "uniprot_id": [ { "id": "ETHE1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95571", "type": "external" } ], "mass": 27873.0, "length": 254, "protein_name": "Persulfide dioxygenase ETHE1, mitochondrial", "gene_name": "ETHE1", "organism": "Human", "refseq_name": "persulfide dioxygenase ETHE1, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001307796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307796", "type": "external" } ], "gene_names_uniprotkb": "ETHE1; HSCO", "gene_names_refseq": "ETHE1; HSCO; YF13H12", "protein_names_uniprotkb": "Persulfide dioxygenase ETHE1, mitochondrial; 1.13.11.18; Ethylmalonic encephalopathy protein 1; Hepatoma subtracted clone one protein; Sulfur dioxygenase ETHE1", "protein_names_refseq": "ethylmalonic encephalopathy 1; hepatoma subtracted clone one protein; persulfide dioxygenase ETHE1, mitochondrial isoform 2; persulfide dioxygenase ETHE1, mitochondrial; protein ETHE1, mitochondrial; sulfur dioxygenase ETHE1", "tax_id": 9606, "disease": "ethylmalonic encephalopathy (Disease Ontology:DOID:0060640)", "pathway": " (hsa:23474); (R-HSA-1614517)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10585886;11237011;12398897;12832624;14732903;16475804;17459792;18494801;18593870;19136963;19608861;23144459;24275569;24981631;25576301;25596185;25880248;26992070;27846572;27862975;27920218;28832583;28834231;29242379;30429286;31154438;31477743;31844290;31848261;32157095;32488085;32938616;32983136;33274826;33639274;33968037;34357683;34932366;35051231;35580925;36010968;36215666;36284347;38665916;4441366;6361026", "class_list": "", "function": "Ethylmalonic encephalopathy 1 initiates overactive autophagy in depleted uranium-induced cytotoxicity in the human embryonic kidney 293 cells., [RefSeq, PubMed]; Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome., [RefSeq, PubMed]; Role of the ETHE1 gene product in mitochondrial homeostasis and energy metabolism, [RefSeq, PubMed]; Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic effects, due to the inhibition of cytochrome c oxidase. First described as a protein that can shuttle between the nucleus and the cytoplasm and suppress p53-induced apoptosis by sequestering the transcription factor RELA/NFKB3 in the cytoplasm and preventing its accumulation in the nucleus (PubMed:12398897)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96HR0;Q9H001", "ec_number_list": [ { "id": "1.13.11.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.18", "type": "external" }, { "id": "1.8.5.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.8", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0042802 identical protein binding;GO:0050313 sulfur dioxygenase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0070813 hydrogen sulfide metabolic process;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "O95571-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00167-1", "uniprot_id": [ { "id": "EYA2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00167", "type": "external" } ], "mass": 59232.0, "length": 538, "protein_name": "Protein phosphatase EYA2", "gene_name": "EYA2", "organism": "Human", "refseq_name": "protein phosphatase EYA2 isoform a", "refseq_ac": [ { "id": "NP_005235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005235", "type": "external" } ], "gene_names_uniprotkb": "EYA2; EAB1", "gene_names_refseq": "EAB1; EYA2", "protein_names_uniprotkb": "Protein phosphatase EYA2; 3.1.3.48; Eyes absent homolog 2", "protein_names_refseq": "eyes absent homolog 2; protein phosphatase EYA2 isoform a; protein phosphatase EYA2", "tax_id": 9606, "disease": "branchiootorenal syndrome (Disease Ontology:DOID:14702); eye disease (Disease Ontology:DOID:5614)", "pathway": " (hsa:2139); (R-HSA-5693565)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "10550055;10724175;10766245;10802669;10866324;10906137;10959836;10973490;11025670;11114888;11237011;11390408;11571274;11573085;11893489;11927591;11934988;12364621;12447390;12485996;12500905;12607003;12607005;12697768;12773400;12792649;12832489;12890688;14560035;15064416;15201865;15279782;16150728;16377563;16427009;16651405;17525332;17525340;17553757;17848578;18001824;18001825;18006705;18077395;18443292;18644861;19001859;19092802;19117993;19176521;19203578;19203579;19234442;19261749;19351884;19497856;19782031;19858093;20016603;20023648;20351172;21282113;21293379;21706047;22234877;22373579;22508508;22589545;22908299;22980979;23435380;24667604;26992070;29557506;30379171;30429286;30779550;30833945;31154438;31848261;33015798;33141586;34044846;34087483;34171305;34617969;34761455;34932366;35051231;35561310;35580925;36010968;36284347;37486991;8944023;9020840;9049631;9168116;9195991;9488723;9887327", "class_list": "", "function": "EYA2 suppresses the progression of hepatocellular carcinoma via SOCS3-mediated blockade of JAK/STAT signaling. Publication Status: Online-Only, [RefSeq, PubMed]; EYA2 tyrosine phosphatase inhibition reduces MYC and prevents medulloblastoma progression., [RefSeq, PubMed]; Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:12500905, PubMed:23435380). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19351884). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Plays an important role in hypaxial muscle development together with SIX1 and DACH2; in this it is functionally redundant with EYA1 (PubMed:12500905)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MicroRNA-219 inhibits cell viability and metastasis in papillary thyroid carcinoma by targeting EYA2., [RefSeq, PubMed]; Structure-activity relationship studies of allosteric inhibitors of EYA2 tyrosine phosphatase., [RefSeq, PubMed]; Targeting EYA2 tyrosine phosphatase activity in glioblastoma stem cells induces mitotic catastrophe., [RefSeq, PubMed]; This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JSW8;Q86U84;Q96CV6;Q96H97;Q99503;Q99812;Q9BWF6;Q9H4S3;Q9H4S9;Q9NPZ4;Q9UIX7", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004725 protein tyrosine phosphatase activity;GO:0140793 histone H2AXY142 phosphatase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007501 mesodermal cell fate specification;GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045739 positive regulation of DNA repair", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "O00167-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y421-1", "uniprot_id": [ { "id": "FA32A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y421", "type": "external" } ], "mass": 13178.0, "length": 112, "protein_name": "Protein FAM32A", "gene_name": "FAM32A", "organism": "Human", "refseq_name": "protein FAM32A", "refseq_ac": [ { "id": "NP_054796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054796", "type": "external" } ], "gene_names_uniprotkb": "FAM32A; CGI-144; OTAG12", "gene_names_refseq": "FAM32A; OTAG-12; OTAG12", "protein_names_uniprotkb": "Protein FAM32A; OTAG-12; Ovarian tumor-associated gene 12", "protein_names_refseq": "ovarian tumor associated gene-12; protein FAM32A", "tax_id": 9606, "disease": "", "pathway": " (hsa:26017); (R-HSA-72163)", "pathway_count": 2, "publication_count": 139, "publication_id_list": "10882114;11014198;11101529;11230166;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;19913121;20423332;20628086;20980672;21339736;21536652;2176635;21872626;21993680;22110043;22365833;22959432;22961380;23222130;23236153;23345524;23481700;24196718;24304693;24366607;24448447;24715725;24737827;24914973;25555158;25576301;2558966;25645385;25880248;26154972;26375851;26385511;26420826;26969736;26992070;27377154;27459055;27543614;27600516;27683217;27846572;27920218;28062851;28076346;28228285;28502770;28781166;28832583;28834231;29242379;29301961;29331515;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29786170;30315122;30315277;30429286;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31222486;31409651;31530632;31844290;31848261;32157095;32179686;32329775;32357974;32387766;32494006;32502341;32938616;32983136;33123756;33243851;33298915;33446560;33592498;33691108;33717175;33968037;33981976;34171305;34301950;34509645;34822310;34932366;35051231;35385551;35580925;36241641;36284347;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Isoform 1, but not isoform 2 or isoform 3, may induce G2 arrest and apoptosis. May also increase cell sensitivity to apoptotic stimuli., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study showed that hOTAG-12b increases mRNAs of pro-apoptotic genes such as BAD, GADD45alpha and CIEDB, while inhibiting anti-apoptotic NAIP and Akt1 expression, suggesting that hOTAG-12b-induced apoptosis might be p53-independent, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BT02", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006915 apoptotic process;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q9Y421-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0MZ66-1", "uniprot_id": [ { "id": "SHOT1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0MZ66", "type": "external" } ], "mass": 71640.0, "length": 631, "protein_name": "Shootin-1", "gene_name": "SHTN1", "organism": "Human", "refseq_name": "shootin-1 isoform a", "refseq_ac": [ { "id": "NP_001120683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683", "type": "external" } ], "gene_names_uniprotkb": "SHTN1; KIAA1598", "gene_names_refseq": "KIAA1598; SHTN1; shootin-1", "protein_names_uniprotkb": "Shootin-1; Shootin1", "protein_names_refseq": "shootin-1 isoform a; shootin1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57698); (R-HSA-437239)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10.1101/2023.09.13.557529;10608864;10747093;10804209;10818153;12082080;12942088;16330023;16385451;16964243;17030985;18478542;18669648;19278660;19690332;20068231;21406692;23186163;23301498;24275569;2448316;25645385;26154972;26261183;27600516;28510447;29393594;29557506;29786170;29789417;30379171;30411541;30429286;31154438;31373491;31530632;31844290;31848261;32157095;32357974;32371045;32387766;32488085;32938616;32983136;33141586;33592498;33968037;34087483;34509645;35008409;35051231;35318648;35580925;36284347;7493978;9651214;9721721", "class_list": "", "function": "Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or 'clutch engagement' within the axon growth cone through activation of CDC42, RAC1 and PAK1-dependent signaling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organization by regulating the subcellular localization of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Also plays a role in regenerative neurite outgrowth. In the developing cortex, cooperates with KIF20B to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in the accumulation of phosphatidylinositol 3,4,5-trisphosphate (PIP3) in the growth cone of primary hippocampal neurons., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative Coiled-Coil Domain-Dependent Autoinhibition and Alternative Splicing Determine SHTN1's Actin-Binding Activity., [RefSeq, PubMed]; SHTN1 might be associated with the development of nonsyndromic cleft lip with or without cleft palate., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MYU7;B3KRD3;B3KRH2;B3KTE0;B3KTJ7;B3KTJ8;B4E3U1;B7Z7Z9;Q68DG1;Q6PIM5;Q9HCH4;Q9NUV0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0045296 cadherin binding;GO:0019894 kinesin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0030027 lamellipodium;GO:0030424 axon;GO:0030426 growth cone", "go_biological_process": "GO:0060327 cytoplasmic actin-based contraction involved in cell motility;GO:0061163 endoplasmic reticulum polarization;GO:0061573 actin filament bundle retrograde transport;GO:0007409 axonogenesis;GO:0048812 neuron projection morphogenesis", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "A0MZ66-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43294-1", "uniprot_id": [ { "id": "TGFI1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43294", "type": "external" } ], "mass": 49814.0, "length": 461, "protein_name": "Transforming growth factor beta-1-induced transcript 1 protein", "gene_name": "TGFB1I1", "organism": "Human", "refseq_name": "transforming growth factor beta-1-induced transcript 1 protein isoform 1", "refseq_ac": [ { "id": "NP_001035919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035919", "type": "external" } ], "gene_names_uniprotkb": "TGFB1I1; ARA55", "gene_names_refseq": "ARA55; HIC-5; HIC5; TGFB1I1; TSC-5", "protein_names_uniprotkb": "Transforming growth factor beta-1-induced transcript 1 protein; Androgen receptor coactivator 55 kDa protein; Androgen receptor-associated protein of 55 kDa; Hic-5; Hydrogen peroxide-inducible clone 5 protein", "protein_names_refseq": "androgen receptor coactivator 55 kDa protein; androgen receptor coactivator ARA55; androgen receptor-associated protein of 55 kDa; hydrogen peroxide-inducible clone 5 protein; hydrogen peroxide-inducible clone-5; transforming growth factor beta-1-induced transcript 1 protein isoform 1; transforming growth factor beta-1-induced transcript 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7041)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "10075738;10708479;10838081;11237011;11311131;11313252;11463817;11489729;11532379;11856738;12153727;12177201;12445807;12631731;12642630;12700349;12714604;12772188;15211577;15561701;15687259;16141357;16330715;16624805;16764713;16803896;16849583;17081983;17166536;17202804;17233630;17287340;18691976;19651622;20166139;21406692;22028470;22529104;23145173;23186163;24275569;27869121;28832583;29557506;30893012;31154438;31492838;31844290;31848261;32157095;32859368;32938616;33310972;33592498;33968037;34019948;35051231;35254053;36284347;38159847;38180299;38665916;9032249;9422762;9664039;9756887", "class_list": "", "function": "Exosome-mediated Hic-5 regulates proliferation and apoptosis of osteosarcoma via Wnt/beta-catenin signal pathway., [RefSeq, PubMed]; Functions as a molecular adapter coordinating multiple protein-protein interactions at the focal adhesion complex and in the nucleus. Links various intracellular signaling modules to plasma membrane receptors and regulates the Wnt and TGFB signaling pathways. May also regulate SLC6A3 and SLC6A4 targeting to the plasma membrane hence regulating their activity. In the nucleus, functions as a nuclear receptor coactivator regulating glucocorticoid, androgen, mineralocorticoid and progesterone receptor transcriptional activity. May play a role in the processes of cell growth, proliferation, migration, differentiation and senescence. May have a zinc-dependent DNA-binding activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Paxillin family of focal adhesion adaptor proteins and regulation of cancer cell invasion., [RefSeq, PubMed]; Paxillin family proteins Hic-5 and LPXN promote lipid storage by regulating the ubiquitination degradation of CIDEC., [RefSeq, PubMed]; TGFB1I1 promotes cell proliferation and migration in urothelial carcinoma., [RefSeq, PubMed]; This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R8D5;Q9BPW3;Q9Y2V5", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0046872 metal ion binding;GO:0050681 nuclear androgen receptor binding;GO:0048495 Roundabout binding;GO:0070411 I-SMAD binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005911 cell-cell junction;GO:0005925 focal adhesion;GO:0031012 extracellular matrix;GO:0016363 nuclear matrix", "go_biological_process": "GO:0007155 cell adhesion;GO:0008285 negative regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0045893 positive regulation of DNA-templated transcription;GO:0034446 substrate adhesion-dependent cell spreading", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "O43294-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZT9-1", "uniprot_id": [ { "id": "FAM9C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZT9", "type": "external" } ], "mass": 19210.0, "length": 166, "protein_name": "Protein FAM9C", "gene_name": "FAM9C", "organism": "Human", "refseq_name": "protein FAM9C", "refseq_ac": [ { "id": "NP_777561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777561", "type": "external" } ], "gene_names_uniprotkb": "FAM9C; TEX39C", "gene_names_refseq": "FAM9C; TEX39C", "protein_names_uniprotkb": "Protein FAM9C", "protein_names_refseq": "protein FAM9C; testis expressed 39C", "tax_id": 9606, "disease": "", "pathway": " (hsa:171484)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12213195;23836295;24714562;26728094;29557506;32938616", "class_list": "", "function": "Expressed exclusively in testis; protein is located in the nucleus., [RefSeq, PubMed]; FAM9C overexpression increased the phosphorylation levels of Akt and anti-apoptotic ability in hepatocellular carcinoma., [RefSeq, PubMed]; This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9G7;Q5HYJ6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000795 synaptonemal complex", "go_biological_process": "GO:0007286 spermatid development;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8IZT9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWM3-1", "uniprot_id": [ { "id": "CUED1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWM3", "type": "external" } ], "mass": 42258.0, "length": 386, "protein_name": "CUE domain-containing protein 1", "gene_name": "CUEDC1", "organism": "Human", "refseq_name": "CUE domain-containing protein 1", "refseq_ac": [ { "id": "NP_001258804", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258804", "type": "external" } ], "gene_names_uniprotkb": "CUEDC1", "gene_names_refseq": "CUEDC1", "protein_names_uniprotkb": "CUE domain-containing protein 1", "protein_names_refseq": "CUE domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:404093)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;29557506;30145202;33067938;33099540;33592498;33968037;36010968;36241641", "class_list": "", "function": "CUEDC1 inhibits epithelial-mesenchymal transition via the TbetaRI/Smad signaling pathway and suppresses tumor progression in non-small cell lung cancer., [RefSeq, PubMed]; Data inidicate CUE domain containing 1 (CUEDC1) expression correlates positively with estrogen receptor alpha (ERalpha) in breast cancer, and suggest CUEDC1 is a functional target gene of ERalpha and is required for breast cancer cell proliferation., [RefSeq, PubMed]; [Prognostic Significance of CUEDC1 in Patients with Acute Myeloid Leukemia (non-M3)]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DTZ2;Q9NWD0", "ec_number_list": [], "go_molecular_function": "GO:0043130 ubiquitin binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9NWM3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49327-1", "uniprot_id": [ { "id": "FAS_HUMAN", "url": "https://www.uniprot.org/uniprot/P49327", "type": "external" } ], "mass": 273427.0, "length": 2511, "protein_name": "Fatty acid synthase", "gene_name": "FASN", "organism": "Human", "refseq_name": "fatty acid synthase", "refseq_ac": [ { "id": "NP_004095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004095", "type": "external" } ], "gene_names_uniprotkb": "FASN; FAS", "gene_names_refseq": "FASN; FAS; OA-519; SDR27X1", "protein_names_uniprotkb": "Fatty acid synthase; 2.3.1.85; Type I fatty acid synthase", "protein_names_refseq": "3-hydroxyacyl-[acyl-carrier-protein] dehydratase; 3-oxoacyl-[acyl-carrier-protein] reductase; 3-oxoacyl-[acyl-carrier-protein] synthase; Acyl-[acyl-carrier-protein] hydrolase; Enoyl-[acyl-carrier-protein] reductase; [Acyl-carrier-protein] S-acetyltransferase; [Acyl-carrier-protein] S-malonyltransferase; fatty acid synthase; short chain dehydrogenase/reductase family 27X, member 1; type I fatty acid synthase", "tax_id": 9606, "disease": "muscular disease (Disease Ontology:DOID:0080000); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:2194); (R-HSA-163765); (R-HSA-199220); (R-HSA-2426168); (R-HSA-75105); (R-HSA-9029558); (R-HSA-9918481); (R-HSA-9918487)", "pathway_count": 8, "publication_count": 300, "publication_id_list": "10.1101/2023.09.13.557529;10229681;10329687;10334869;10400691;10567687;10759542;11158296;11237011;11287605;11414710;11466336;11747608;11756679;11790787;11875071;12083769;12177166;12518032;12689621;12750860;12757929;12764144;12815048;13651131;1371749;1377680;14519844;14654843;14742444;14762106;15084397;15104674;15507492;15610069;15664996;15668256;15907797;16215233;16237088;16644726;16854592;16885160;16964243;16969344;17081065;17148476;17242360;17322306;17449569;17618296;17684114;17697703;17898086;17925399;17978863;18022563;18212344;18369606;18452278;18455495;18559965;18654640;18669648;18682402;18726356;18767875;19369195;19413330;19415658;19429682;19531498;19549604;19571038;19608861;19651622;19664994;19664995;1968462;20068231;20138239;20450493;20470824;20719759;20937905;21183659;21872626;21911577;22009320;22102020;22223895;22322005;22424782;22465940;22544926;22634312;22869377;23186163;23301498;23481700;23700546;23932781;24275569;24286864;24366607;24397554;24714562;24715725;25114211;25203508;25367160;25418920;25469497;25502872;25505266;25576301;25645385;25810538;25880248;25892735;26092250;26154972;26375851;26728094;26735137;26811146;26851298;26853435;26929215;26992070;27108190;27185461;27322068;27397612;27452731;27543614;27600516;27726376;27862975;27892461;27920218;28063628;28218747;28228285;28467828;28472301;28514659;28649982;28832583;28834231;28855257;28860189;28904123;29117567;29242379;29314611;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29774024;29786170;29789417;29902443;30315122;30410026;30429286;30484775;30524438;30573663;30599162;30779550;30833945;31004344;31020640;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32162841;32234503;32265295;32350084;32357974;32387766;32488085;32502341;32890404;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33177556;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34093574;34171305;34211107;34229054;34320401;34357683;34405274;34433824;34509645;34561969;34696522;34725712;34932366;35008409;35051231;35083852;35132862;35138101;35154160;35215846;35251023;35318648;35494241;35561310;35580925;35585045;36010968;36215666;36241641;36284347;36581221;36983025;37340703;37938771;3805044;38177122;38665916;39044184;39064589;39075049;39345091;40307207;40596516;40684943;40914422;41550490;5810867;627544;7567999;7584149;7592729;7595075;7732023;7901201;7909540;7916016;8020941;8022791;8402897;8619637;8626466;8626488;8647822;8663599;8798690;8934567;8962082;8976377;9099716;9341199;9356448;9516450;9604010;9634533;9748295", "class_list": "", "function": "(Microbial infection) Fatty acid synthetase activity is required for SARS coronavirus-2/SARS-CoV-2 replication., [UniProtKB, PubMed]; Deficiency of SIAH1 promotes the formation of filopodia by increasing the accumulation of FASN in liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]; FASN contributes to ADM resistance of diffuse large B-cell lymphoma by inhibiting ferroptosis via nf-kappaB/STAT3/GPX4 axis., [RefSeq, PubMed]; Fatty Acid Synthase Promotes Hepatocellular Carcinoma Growth via S-Phase Kinase-Associated Protein 2/p27[KIP1] Regulation. Publication Status: Online-Only, [RefSeq, PubMed]; Fatty acid synthetase is a multifunctional enzyme that catalyzes the de novo biosynthesis of long-chain saturated fatty acids starting from acetyl-CoA and malonyl-CoA in the presence of NADPH. This multifunctional protein contains 7 catalytic activities and a site for the binding of the prosthetic group 4'-phosphopantetheine of the acyl carrier protein ([ACP]) domain., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Inverse FASN and LDHA correlation drives metabolic resistance in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 64, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q13479;Q16702;Q4LE83;Q6P4U5;Q6SS02;Q969R1;Q96C68;Q96IT0", "ec_number_list": [ { "id": "1.1.1.100", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.100", "type": "external" }, { "id": "1.3.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.39", "type": "external" }, { "id": "2.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.38", "type": "external" }, { "id": "2.3.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.39", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" }, { "id": "2.3.1.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.85", "type": "external" }, { "id": "3.1.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.14", "type": "external" }, { "id": "4.2.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.59", "type": "external" }, { "id": "1.6.5.10", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.10", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "1.3.1.104", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.104", "type": "external" }, { "id": "2.7.8.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.7", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0031177 phosphopantetheine binding;GO:0004312 fatty acid synthase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030223 neutrophil differentiation;GO:0006631 fatty acid metabolic process;GO:0007584 response to nutrient;GO:0008611 ether lipid biosynthetic process;GO:0006084 acetyl-CoA metabolic process", "synthesized_glycan_count": 0, "hit_score": 31.4, "record_id": "P49327-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12769-1", "uniprot_id": [ { "id": "NU160_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12769", "type": "external" } ], "mass": 162121.0, "length": 1436, "protein_name": "Nuclear pore complex protein Nup160", "gene_name": "NUP160", "organism": "Human", "refseq_name": "nuclear pore complex protein Nup160 isoform 2", "refseq_ac": [ { "id": "NP_001305328", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305328", "type": "external" } ], "gene_names_uniprotkb": "NUP160; KIAA0197; NUP120", "gene_names_refseq": "NPHS19; NUP160", "protein_names_uniprotkb": "Nuclear pore complex protein Nup160; 160 kDa nucleoporin; Nucleoporin Nup160", "protein_names_refseq": "160 kDa nucleoporin; nuclear pore complex protein Nup160 isoform 2; nuclear pore complex protein Nup160; nucleoporin 160kDa; nucleoporin 160kD; nucleoporin Nup160", "tax_id": 9606, "disease": "nephrotic syndrome type 19 (Disease Ontology:DOID:0080394)", "pathway": " (hsa:23279); (R-HSA-1169408); (R-HSA-141430); (R-HSA-141444); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-5663220); (R-HSA-6784531); (R-HSA-68877); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9648025); (R-HSA-9705671)", "pathway_count": 39, "publication_count": 569, "publication_id_list": 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"class_list": "", "function": "Functions as a component of the nuclear pore complex (NPC) (PubMed:11564755, PubMed:11684705). Involved in poly(A)+ RNA transport., [UniProtKB, PubMed, PubMed]; Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children. Publication Status: Online-Only, [RefSeq, PubMed]; Role and Mechanism of NUP160-regulated Autophagy in Pathogenesis of Diabetic Nephropathy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DYE8;B4E2J9;Q08AD3;Q7Z5X6;Q96GB3;Q9H660", "ec_number_list": [], "go_molecular_function": "GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0031080 nuclear pore outer ring;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005829 cytosol", "go_biological_process": "GO:0072006 nephron development;GO:0006406 mRNA export from nucleus;GO:0006913 nucleocytoplasmic transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 57.2, "record_id": "Q12769-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JN8-1", "uniprot_id": [ { "id": "NEUL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JN8", "type": "external" } ], "mass": 166907.0, "length": 1562, "protein_name": "Neuralized-like protein 4", "gene_name": "NEURL4", "organism": "Human", "refseq_name": "neuralized-like protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001005408", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005408", "type": "external" } ], "gene_names_uniprotkb": "NEURL4; KIAA1787", "gene_names_refseq": "NEURL4", "protein_names_uniprotkb": "Neuralized-like protein 4", "protein_names_refseq": "neuralized homolog 4; neuralized-like protein 4 isoform 2; neuralized-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:84461)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11230166;11237011;18669648;18691976;19007248;19664995;22261722;22441691;22645313;23186163;24715725;26992070;27846572;28063628;28385950;28904123;29242379;29393594;29557506;29632046;30315122;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33717175;33968037;34171305;34561969;35051231;35157000;35580925;36010968;36215666;37217939", "class_list": "", "function": "Neuralized-like protein 4 (NEURL4) mediates ADP-ribosylation of mitochondrial proteins., [RefSeq, PubMed]; Neurl4 counteracts accumulation of CP110, thereby maintaining normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centres Publication Status: Online-Only, [RefSeq, PubMed]; Promotes CCP110 ubiquitination and proteasome-dependent degradation. By counteracting accumulation of CP110, maintains normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centers., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The NEURL4-HERC2 complex participates in the ubiquitin-dependent regulation of centrosome architecture, [RefSeq, PubMed]; The data support a model in which the daughter centriole promotes ciliogenesis through Neurl-4-dependent regulation of CP110 levels at the mother centriole., [RefSeq, PubMed]; The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6GPI8;Q96IU9;Q9H0B0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0061630 ubiquitin protein ligase activity;GO:0030701 NAD+-dinitrogen-reductase ADP-D-ribosyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005814 centriole", "go_biological_process": "GO:0043504 mitochondrial DNA repair", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q96JN8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29320-1", "uniprot_id": [ { "id": "EPHA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P29320", "type": "external" } ], "mass": 110131.0, "length": 983, "protein_name": "Ephrin type-A receptor 3", "gene_name": "EPHA3", "organism": "Human", "refseq_name": "ephrin type-A receptor 3 isoform a precursor", "refseq_ac": [ { "id": "NP_005224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005224", "type": "external" } ], "gene_names_uniprotkb": "EPHA3; ETK1; ETK; HEK; TYRO4", "gene_names_refseq": "EK4; EPHA3; ETK1; ETK; HEK4; HEK; TYRO4", "protein_names_uniprotkb": "Ephrin type-A receptor 3; 2.7.10.1; EK4; EPH-like kinase 4; Eph-like tyrosine kinase 1; HEK; Human embryo kinase; Tyrosine-protein kinase TYRO4; Tyrosine-protein kinase receptor ETK1; hEK4", "protein_names_refseq": "EPH-like kinase 4; TYRO4 protein tyrosine kinase; eph-like tyrosine kinase 1; ephrin type-A receptor 3 isoform a precursor; ephrin type-A receptor 3; human embryo kinase 1; testicular tissue protein Li 64; tyrosine-protein kinase receptor ETK1", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); cholestasis (Disease Ontology:DOID:13580); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); lung non-small cell carcinoma (Disease Ontology:DOID:3908); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2042); (R-HSA-2682334); (R-HSA-3928663); (R-HSA-3928665)", "pathway_count": 4, "publication_count": 58, "publication_id_list": "10.1101/2023.09.13.557529;10769020;10848605;10987298;11179879;11237011;11448999;11780069;11870224;12084815;12495863;12738854;12794130;12973357;1311845;14660665;14993233;15351694;15848799;15848800;15901737;16239146;16511561;16941478;16959974;17322526;17344846;1737782;17428795;17928214;18547520;18713744;19525919;20496116;20697431;20838624;21135139;26232493;27090790;29317506;29557506;30429286;31092671;31154438;31844290;32350084;32387766;33298915;33592498;33633747;33912179;33919657;33968037;34357683;35051231;35154160;37434266;9499402", "class_list": "", "function": "EPHA3 Contributes to Epigenetic Suppression of PTEN in Radioresistant Head and Neck Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (PubMed:11870224, PubMed:12794130). Highly promiscuous for ephrin-A ligands it binds preferentially EFNA5 (By similarity). Upon activation by EFNA5 regulates cell-cell adhesion, cytoskeletal organization and cell migration (PubMed:11870224). Also activated by EFNA1, inhibiting epithelial-to-mesenchymal transition of cardiac cells and playing a role in heart development (PubMed:12794130). Involved in the retinotectal mapping of neurons. May also control the segregation but not the guidance of motor and sensory axons during neuromuscular circuit development (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The Ephrin tyrosine kinase a3 (EphA3) is a novel mediator of RAGE-prompted motility of breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 161, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 3, "disease_count": 10, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q9H2V3;Q9H2V4", "ec_number_list": [ { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0005005 transmembrane-ephrin receptor activity;GO:0005003 ephrin receptor activity;GO:0005004 GPI-linked ephrin receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0030425 dendrite", "go_biological_process": "GO:0010717 regulation of epithelial to mesenchymal transition;GO:0051893 regulation of focal adhesion assembly;GO:0045806 negative regulation of endocytosis;GO:0007155 cell adhesion;GO:0010976 positive regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P29320-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51843-1", "uniprot_id": [ { "id": "NR0B1_HUMAN", "url": "https://www.uniprot.org/uniprot/P51843", "type": "external" } ], "mass": 51718.0, "length": 470, "protein_name": "Nuclear receptor subfamily 0 group B member 1", "gene_name": "NR0B1", "organism": "Human", "refseq_name": "nuclear receptor subfamily 0 group B member 1", "refseq_ac": [ { "id": "NP_000466", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000466", "type": "external" } ], "gene_names_uniprotkb": "NR0B1; AHC; DAX1", "gene_names_refseq": "AHCH; AHC; AHX; DAX-1; DAX1; DSS; GTD; HHG; NR0B1; NROB1; SRXY2", "protein_names_uniprotkb": "Nuclear receptor subfamily 0 group B member 1; DSS-AHC critical region on the X chromosome protein 1; Nuclear receptor DAX-1", "protein_names_refseq": "DSS-AHC critical region on the X chromosome protein 1; nuclear hormone receptor; nuclear receptor DAX-1; nuclear receptor subfamily 0 group B member 1", "tax_id": 9606, "disease": "X-linked adrenal hypoplasia congenita (Disease Ontology:DOID:0080156); 46,XY sex reversal 2 (Disease Ontology:DOID:0111777)", "pathway": " (hsa:190)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;10323730;10341858;10675358;10713076;10848616;11113848;11237011;11443184;11748852;11788621;12482977;12629128;15589120;15800903;16146703;16709599;26416531;32433991;32502341;34019948;34171305;35051231;35230670;35848959;37118935;37991109;7990953;7990958;8675564;9003500;9063431;9360549;9415399;9486644;9529340", "class_list": "", "function": "Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations., [RefSeq, PubMed]; NR0B1 augments sorafenib resistance in hepatocellular carcinoma through promoting autophagy and inhibiting apoptosis., [RefSeq, PubMed]; New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images., [RefSeq, PubMed]; Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear receptor that lacks a DNA-binding domain and acts as a corepressor that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions (PubMed:12482977, PubMed:32433991). Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis (PubMed:7990953, PubMed:8675564). May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96F69", "ec_number_list": [], "go_molecular_function": "GO:0032448 DNA hairpin binding;GO:0003723 RNA binding;GO:0019904 protein domain specific binding;GO:0042803 protein homodimerization activity;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0007530 sex determination;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P51843-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQK1-1", "uniprot_id": [ { "id": "PPR3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQK1", "type": "external" } ], "mass": 36445.0, "length": 317, "protein_name": "Protein phosphatase 1 regulatory subunit 3C", "gene_name": "PPP1R3C", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 3C", "refseq_ac": [ { "id": "NP_005389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005389", "type": "external" } ], "gene_names_uniprotkb": "PPP1R3C; PPP1R5", "gene_names_refseq": "PPP1R3C; PPP1R5; PTG", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 3C; PP1 subunit R5; PTG; Protein phosphatase 1 regulatory subunit 5; Protein targeting to glycogen", "protein_names_refseq": "PP1 subunit R5; Phosphatase 1, regulatory inhibitor subunit 5; protein phosphatase 1 regulatory subunit 3C; protein phosphatase 1 regulatory subunit 5; protein phosphatase 1, regulatory (inhibitor) subunit 3C; protein targeting to glycogen", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5507); (R-HSA-3322077); (R-HSA-3785653)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "10222257;12958597;14532330;15930137;17074750;18040046;18070875;19699667;20112406;20357282;20538597;21356517;21738631;22248338;22815132;23663739;25416783;25538239;25544560;25576301;26216881;26992070;27846572;29393594;29557506;30429286;31154438;31844290;31848261;32161166;32915648;32938616;33392160;35580925;36241641;37217939;37511212;4829444;5348606;5427280;7902568;8613547;8631325;8985175;9346895;9691087;9771710;9931343", "class_list": "glycogene", "function": "Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types., [UniProtKB, UniProtKB, PubMed]; AhRR and PPP1R3C: Potential Prognostic Biomarkers for Serous Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-4461 Inhibits Tumorigenesis of Renal Cell Carcinoma by Targeting PPP1R3C., [RefSeq, PubMed]; This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 363, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7X0;O95686", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0004722 protein serine/threonine phosphatase activity;GO:0008157 protein phosphatase 1 binding;GO:0019903 protein phosphatase binding;GO:2001069 glycogen binding", "go_cellular_component": "GO:0000164 protein phosphatase type 1 complex;GO:0005829 cytosol", "go_biological_process": "GO:0005977 glycogen metabolic process;GO:0005978 glycogen biosynthetic process;GO:0005979 regulation of glycogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9UQK1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61106-1", "uniprot_id": [ { "id": "RAB14_HUMAN", "url": "https://www.uniprot.org/uniprot/P61106", "type": "external" } ], "mass": 23897.0, "length": 215, "protein_name": "Ras-related protein Rab-14", "gene_name": "RAB14", "organism": "Human", "refseq_name": "ras-related protein Rab-14", "refseq_ac": [ { "id": "NP_057406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057406", "type": "external" } ], "gene_names_uniprotkb": "RAB14", "gene_names_refseq": "FBP; RAB-14; RAB14", "protein_names_uniprotkb": "Ras-related protein Rab-14; 3.6.5.2", "protein_names_refseq": "F protein-binding protein 1; bA165P4.3 (member RAS oncogene family); ras-related protein Rab-14; small GTP binding protein RAB14", "tax_id": 9606, "disease": "", "pathway": " (hsa:51552); (R-HSA-1445148); (R-HSA-1660499); (R-HSA-6798695); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 6, "publication_count": 373, "publication_id_list": "10.1101/2023.09.13.557529;10194451;10224048;10555148;10559940;10593988;10753883;10805725;10818110;10822173;10931946;10990452;11001876;11038176;11084340;11141079;11179213;11237011;11279162;11302699;11349134;11389151;11447212;11516400;11604140;11675392;11676921;11689439;11703925;11733541;11746448;11784320;11801660;11877430;11917121;11923287;12058051;12101241;12118066;12221131;12244319;12324459;12364329;12422219;12427552;12475894;12536145;12646134;12684051;12808147;12847086;12944476;12972505;14516276;14617813;14660569;15080793;15096524;15107860;15135396;15138286;1516130;15247254;15388334;15464023;15528189;15561770;15692570;15716355;15797027;15840652;15878329;15914536;15919790;15958533;15971998;16034420;16154996;16207721;16373702;16399794;16401880;16410077;16476736;1648736;16522682;16525024;16525121;16571673;16641372;16754960;16880201;16880209;16914545;16950109;16962593;16979564;17008356;17043139;17114793;17132146;17189207;17208202;17239822;17245604;17287728;17369524;17411337;17488286;17562788;17574030;17646400;17651088;17671165;17678623;17995453;18076383;18093523;18094055;18354496;18367545;18452278;1845915;18477474;18507432;18532927;18559336;18578522;18585354;18664496;18701652;18753295;18779367;18804435;1900457;19013499;19038970;19109890;19252894;19345684;19403694;19490898;19603039;19620288;19651622;19656848;19725050;19729655;19745841;19896968;20008558;20068231;20154091;20159109;20159556;20166139;20305638;20308558;20404108;20434987;20534812;20592283;20631154;20701589;20797862;20837646;20851765;20937701;21041651;2115402;21183348;21187289;21204784;21216617;21255211;21273506;21330364;21421921;21445324;21454505;21454690;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21907143;21951725;22013193;22037487;22065758;22072793;22171327;22223895;22365832;22433857;22511774;22581368;22595670;22622570;22647598;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23519112;23645161;23650620;23678941;23684622;23713133;23719902;23758345;23839779;24023390;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25495341;25502872;2550440;25576301;25645385;25648148;25713415;25892735;25925668;26032412;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26969162;26992070;27041585;27044746;27103185;27246931;27329675;27452731;27920218;28228285;28446606;28467828;28510447;28904123;29242379;29314611;29393594;29493099;29557506;29632711;29769354;29786170;30315122;30429286;30573663;30779550;31092671;31217245;31844290;32157095;32161166;32350084;32488085;32897882;32938616;32983136;33043033;33298915;33592498;33691108;33912179;33936100;33968037;34078123;34087483;34171305;34357683;34433824;34995578;35051231;35154160;35251023;35561310;36010968;36215666;36241641;36471277;37217939;37451218;38665916;38958715;7608176;7624799;7688123;7911226;7957092;7991565;8094051;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8664345;8681945;8692836;8723348;8769125;8836150;8863739;9020086;9020161;9030515;9094719;9113989;9136770;9211928;9286278;9295334;9323142;9367159;9428629;9514948;9516481;9524259;9590177;9593664;9660759;9660833;9733780;9811831;9830063", "class_list": "", "function": "AMPK boosts ADAM10 shedding activity in human aortic endothelial cells by promoting Rab14-dependent ADAM10 cell surface translocation., [RefSeq, PubMed]; Circular RNA IARS modulates the progression and ferroptosis of osteosarcoma via sponging miR-188-5p from RAB14., [RefSeq, PubMed]; Mevalonate pathway orchestrates insulin signaling via RAB14 geranylgeranylation-mediated phosphorylation of AKT to regulate hepatic glucose metabolism., [RefSeq, PubMed]; MiR-214-3p targets Ras-related protein 14 (RAB14) to inhibit cellular migration and invasion in esophageal Cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]., [RefSeq]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:22595670). RAB14 is involved in membrane trafficking between the Golgi complex and endosomes during early embryonic development (By similarity). Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. May act by modulating the kinesin KIF16B-cargo association to endosomes (By similarity). Regulates, together with its guanine nucleotide exchange factor DENND6A, the specific endocytic transport of ADAM10, N-cadherin/CDH2 shedding and cell-cell adhesion (PubMed:22595670). Mediates endosomal tethering and fusion through the interaction with RUFY1 and RAB4B (PubMed:20534812). Interaction with RAB11FIP1 may function in the process of neurite formation (PubMed:26032412)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KR31;P35287;Q5JVD4;Q6Q7K5;Q969L0;Q9UI11", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.4.11.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.3", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019003 GDP binding;GO:0031489 myosin V binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005791 rough endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0090382 phagosome maturation;GO:0006886 intracellular protein transport;GO:0032880 regulation of protein localization;GO:0016192 vesicle-mediated transport;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 37.8, "record_id": "P61106-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZTI6-1", "uniprot_id": [ { "id": "RFLA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZTI6", "type": "external" } ], "mass": 23610.0, "length": 216, "protein_name": "Refilin-A", "gene_name": "RFLNA", "organism": "Human", "refseq_name": "refilin-A isoform 2", "refseq_ac": [ { "id": "NP_859060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859060", "type": "external" } ], "gene_names_uniprotkb": "RFLNA; FAM101A", "gene_names_refseq": "CFM2; FAM101A; RFLNA", "protein_names_uniprotkb": "Refilin-A; RefilinA; Regulator of filamin protein A", "protein_names_refseq": "family with sequence similarity 101, member A; filamin-interacting protein FAM101A; protein FAM101A; refilin-A isoform 2; refilinA; regulator of filamin protein A", "tax_id": 9606, "disease": "", "pathway": " (hsa:100533183); (hsa:144347)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "23490283;30429286;30796325;32938616;35580925;38253038", "class_list": "", "function": "Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in actin cytoskeleton formation in developing cartilaginous cells., [UniProtKB, UniProtKB]; The candidate marker CORO2A rs1985859 and the putative marker FAM101A rs7955740 may be of value for the prediction of radiosensitivity to preoperative colorectal tumors., [RefSeq, PubMed]; The present study implies that RFLNA is an additional causative gene for spondylocarpotarsal synostosis syndrome in humans and a defect in forming actin bundles and perinuclear actin caps may be a critical mechanism for the development of spondylocarpotarsal synostosis syndrome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5D8T5", "ec_number_list": [], "go_molecular_function": "GO:0031005 filamin binding", "go_cellular_component": "GO:0032432 actin filament bundle", "go_biological_process": "GO:1900158 negative regulation of bone mineralization involved in bone maturation;GO:0061572 actin filament bundle organization;GO:0048705 skeletal system morphogenesis;GO:0061182 negative regulation of chondrocyte development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6ZTI6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXE8-1", "uniprot_id": [ { "id": "CWC25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXE8", "type": "external" } ], "mass": 49647.0, "length": 425, "protein_name": "Pre-mRNA-splicing factor CWC25 homolog", "gene_name": "CWC25", "organism": "Human", "refseq_name": "pre-mRNA-splicing factor CWC25 homolog", "refseq_ac": [ { "id": "NP_060218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060218", "type": "external" } ], "gene_names_uniprotkb": "CWC25; CCDC49", "gene_names_refseq": "CCDC49; CWC25", "protein_names_uniprotkb": "Pre-mRNA-splicing factor CWC25 homolog; Coiled-coil domain-containing protein 49; Spliceosome-associated protein homolog CWC25", "protein_names_refseq": "CWC25 spliceosome associated protein homolog; coiled-coil domain-containing protein 49; pre-mRNA-splicing factor CWC25 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:54883); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 123, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;16314458;16809785;17081983;17095540;17332742;17606899;18322460;18593880;18669648;19007248;19103666;19165350;19536130;19651622;19664995;20068231;20423332;20980672;21406692;21536652;2176635;21911577;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24304693;24448447;24737827;24914973;25555158;2558966;26092250;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27683217;27920218;28062851;28076346;28502770;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29493099;29508533;29557506;29632046;2963332;29902443;30315277;30484775;30599162;30705154;30728453;30765414;30975767;31409651;31530632;31844290;31848261;32179686;32329775;32494006;32938616;33177556;33243851;33446560;33592498;33968037;34301950;34561969;34822310;35215846;35254053;35385551;36215666;36241641;36284347;37217939;3757028;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Involved in pre-mRNA splicing as component of the spliceosome., [UniProtKB, PubMed]; This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0JLM3;Q68DK5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0071006 U2-type catalytic step 1 spliceosome;GO:0005684 U2-type spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q9NXE8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWW8-1", "uniprot_id": [ { "id": "EST3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWW8", "type": "external" } ], "mass": 62282.0, "length": 571, "protein_name": "Carboxylesterase 3", "gene_name": "CES3", "organism": "Human", "refseq_name": "carboxylesterase 3 isoform 3", "refseq_ac": [ { "id": "NP_001172105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001172105", "type": "external" } ], "gene_names_uniprotkb": "CES3; PRO1887", "gene_names_refseq": "CES3; ES31", "protein_names_uniprotkb": "Carboxylesterase 3; 3.1.1.1; Liver carboxylesterase 31 homolog", "protein_names_refseq": "carboxylesterase 3 (brain); carboxylesterase 3 isoform 3; esterase 31; liver carboxylesterase 31 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:23491); (R-HSA-211945); (R-HSA-8964038)", "pathway_count": 3, "publication_count": 119, "publication_id_list": "10.1101/2023.09.13.557529;10224102;10438503;10445380;10945627;11154734;11237011;11422004;11584272;12221107;12464675;12725862;12732646;12975309;1351198;14581373;15100172;15166224;15265030;15350128;15492766;15523003;15535985;15687373;16179341;16614850;16765324;17018531;1718995;17400359;17452316;18254726;18256025;18285471;18644789;18772377;18782767;18794728;19053771;19141679;19159218;19196236;19563754;19588076;19592704;19764817;20007405;20177059;20422440;20529763;20542992;20947831;221835;22700792;22764087;22813719;23481700;23616950;23953689;24190977;24423752;24677340;24715725;24868095;24900196;25144769;25425164;25446851;25699256;25915661;25923589;26474739;26992070;2722848;28218747;28228285;28832583;28904123;2897122;29242379;29437277;29557506;29789417;30315122;30410026;31844290;32152082;32157095;32171872;32187464;32205870;32210741;32357974;32387766;32938616;33091337;33392160;33866776;34171305;34185709;34509645;34932366;35051231;35251023;35580925;36284347;37074911;38253038;7980644;8049197;8112342;8146180;8407899;8985016;9169443;9367528;9653080;9705237;9756920", "class_list": "glycogene", "function": "Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows low catalytic efficiency for hydrolysis of CPT-11 (7-ethyl-10-[4-(1-piperidino)-1-piperidino]-carbonyloxycamptothecin), a prodrug for camptothecin used in cancer therapeutics., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pharmacogenomic characterization of human carboxylesterase 1A1, 1A2, and 1A3 genes, [RefSeq, PubMed]; Studies indicate that CES3 mRNA isoform expression in several tissues, particularly in colon, trachea and in brain., [RefSeq, PubMed]; This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene is expressed in several tissues, particularly in colon, trachea and in brain, and the protein participates in colon and neural drug metabolism. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported, but the biological validity and/or full-length nature of some variants have not been determined.[provided by RefSeq, Jun 2010]., [RefSeq]; This study provides the first evidence of functional compensation whereby increased expression of CES3 restores intracellular cholesteryl ester hydrolytic activity and free cholesterol efflux in CES1-deficient cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 730, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2Z3W9;F5H242;Q7Z6J1;Q9H6X7", "ec_number_list": [ { "id": "3.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.1", "type": "external" }, { "id": "3.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.56", "type": "external" }, { "id": "3.1.1.84", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.84", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0052689 carboxylic ester hydrolase activity;GO:0106435 carboxylesterase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0034383 low-density lipoprotein particle clearance", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q6UWW8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N465-1", "uniprot_id": [ { "id": "D2HDH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N465", "type": "external" } ], "mass": 56416.0, "length": 521, "protein_name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial", "gene_name": "D2HGDH", "organism": "Human", "refseq_name": "D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_689996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689996", "type": "external" } ], "gene_names_uniprotkb": "D2HGDH; D2HGD", "gene_names_refseq": "D2HGDH; D2HGD", "protein_names_uniprotkb": "D-2-hydroxyglutarate dehydrogenase, mitochondrial; 1.1.99.39", "protein_names_refseq": "D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor; D-2-hydroxyglutarate dehydrogenase, mitochondrial", "tax_id": 9606, "disease": "D-2-hydroxyglutaric aciduria (Disease Ontology:DOID:0050575); D-2-hydroxyglutaric aciduria 1 (Disease Ontology:DOID:0111351); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:728294); (R-HSA-880009)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11237011;15070399;15385440;15548604;15609246;16005139;16037974;16081310;16435184;16442322;19169842;20020533;27846572;27920218;29557506;3182820;32386320;33141586;33431826;34296423;34357683;35051231;35254053;7564244", "class_list": "", "function": "Adult diffuse glioma GWAS by molecular subtype identifies variants in D2HGDH and FAM20C., [RefSeq, PubMed]; Catalyzes the oxidation of D-2-hydroxyglutarate (D-2-HG) to alpha-ketoglutarate (PubMed:15070399, PubMed:15609246, PubMed:16037974, PubMed:20020533, PubMed:33431826). Also catalyzes the oxidation of other D-2-hydroxyacids, such as D-malate (D-MAL) and D-lactate (D-LAC) (PubMed:33431826). Exhibits high activities towards D-2-HG and D-MAL but a very weak activity towards D-LAC (PubMed:33431826)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Catalyzes the oxidation of D-2-hydroxyglutarate (D-2-HG) to alpha-ketoglutarate. Also catalyzes the oxidation of other D-2-hydroxyacids, such as D-malate (D-MAL) and D-lactate (D-LAC). Exhibits high activities towards D-2-HG and D-MAL but a very weak activity towards D-LAC., [UniProtKB, UniProtKB, UniProtKB]; D-2-hydroxyglutarate dehydrogenase in breast carcinoma as a potent prognostic marker associated with proliferation., [RefSeq, PubMed]; This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]., [RefSeq]; Two novel pathogenic mutations in D-2-hydroxyglutarate dehydrogenase gene in patient with a mild presentation and asymptomatic siblings with D-2-hydroxyglutaric aciduria with a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E3L6;E7ENP2;Q6IQ24;Q8N5Q8", "ec_number_list": [ { "id": "1.1.99.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.99.39", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0071949 FAD binding;GO:0051990 (R)-2-hydroxyglutarate dehydrogenase activity;GO:0016491 oxidoreductase activity;GO:0050660 flavin adenine dinucleotide binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006103 2-oxoglutarate metabolic process;GO:0010043 response to zinc ion;GO:0010042 response to manganese ion;GO:0031648 protein destabilization;GO:0032025 response to cobalt ion", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8N465-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13804-1", "uniprot_id": [ { "id": "ETFA_HUMAN", "url": "https://www.uniprot.org/uniprot/P13804", "type": "external" } ], "mass": 35080.0, "length": 333, "protein_name": "Electron transfer flavoprotein subunit alpha, mitochondrial", "gene_name": "ETFA", "organism": "Human", "refseq_name": "electron transfer flavoprotein subunit alpha, mitochondrial isoform a", "refseq_ac": [ { "id": "NP_000117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000117", "type": "external" } ], "gene_names_uniprotkb": "ETFA", "gene_names_refseq": "EMA; ETFA; GA2; MADD", "protein_names_uniprotkb": "Electron transfer flavoprotein subunit alpha, mitochondrial; Alpha-ETF", "protein_names_refseq": "alpha-ETF; electron transfer flavoprotein alpha subunit; electron transfer flavoprotein subunit alpha, mitochondrial isoform a; electron transfer flavoprotein subunit alpha, mitochondrial; electron transfer flavoprotein, alpha polypeptide; epididymis secretory sperm binding protein; glutaric aciduria II; multiple acyl-CoA dehydrogenase deficiency", "tax_id": 9606, "disease": "multiple acyl-CoA dehydrogenase deficiency (Disease Ontology:DOID:0060358)", "pathway": " (hsa:2108); (R-HSA-611105)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10327278;10356313;11237011;11695836;12231006;12815589;12837546;1327877;1430199;14741580;15159392;15250827;15975918;16230336;17033964;17081983;17941859;186667;1882842;19531498;20068231;22424782;22544926;23150584;23270816;23481700;23564345;23747254;239860;24275569;24715725;25418920;25505266;25564869;25576301;25645385;25802875;26154972;26374642;26375851;26992070;27499296;27600516;27846572;28228285;28832583;28904123;29242379;29493099;29508533;29557506;30315122;30429286;30524438;31092671;31217245;31611695;3170610;31844290;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34211107;34229054;34357683;34509645;34561969;34725712;34932366;35051231;35083852;35251023;35362222;35580925;36010968;36215666;36241641;3760196;37938771;38556340;38665916;40914422;4288886;8962055;9334218;9878551", "class_list": "", "function": "ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Platelet Microparticle-Derived MiR-320b Inhibits Hypertension with Atherosclerosis Development by Targeting ETFA., [RefSeq, PubMed]; The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DT43;Q53XN3", "ec_number_list": [], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0050660 flavin adenine dinucleotide binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045251 electron transfer flavoprotein complex", "go_biological_process": "GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase;GO:0022904 respiratory electron transport chain;GO:0009063 amino acid catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P13804-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MF6-1", "uniprot_id": [ { "id": "CQ10A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MF6", "type": "external" } ], "mass": 27686.0, "length": 247, "protein_name": "Coenzyme Q-binding protein COQ10 homolog A, mitochondrial", "gene_name": "COQ10A", "organism": "Human", "refseq_name": "coenzyme Q-binding protein COQ10 homolog A, mitochondrial isoform b", "refseq_ac": [ { "id": "NP_001092807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092807", "type": "external" } ], "gene_names_uniprotkb": "COQ10A; PRO20219", "gene_names_refseq": "COQ10A", "protein_names_uniprotkb": "Coenzyme Q-binding protein COQ10 homolog A, mitochondrial", "protein_names_refseq": "coenzyme Q-binding protein COQ10 homolog A, mitochondrial isoform b; coenzyme Q-binding protein COQ10 homolog A, mitochondrial; coenzyme Q10 homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:93058); (R-HSA-611105); (R-HSA-9864848)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10327278;11237011;11695836;12231006;12837546;12975309;1327877;14741580;15250827;16230336;17033964;186667;19503089;19891963;20877624;21458815;21640350;22342701;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;239860;24403053;25564869;25926683;25959673;26321642;26992070;27693358;28082314;28199844;28330871;28411811;28904123;29154948;29557506;30379171;30429286;30833945;31154438;31536960;31844290;32102525;32157095;32317297;32357974;32375044;32488085;32827528;33878238;34171305;34932366;34969438;35051231;35204836;35580925;35750769;37938771;4288886;9843204;9878551", "class_list": "", "function": "Assessment of Serum CoQ10 Levels and other Antioxidant Markers in Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain., [RefSeq, PubMed]; Levels of Coenzyme Q10 and Several COQ Proteins in Human Astrocytoma Tissues Are Inversely Correlated with Malignancy. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plasma coenzyme Q10, asymmetric dimethylarginine and arterial stiffness in patients have a role in phenotypic or genotypic familial hypercholesterolemia with long-term statin therapy, [RefSeq, PubMed]; Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (Probable)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results show no significant differences in paraoxonase, oxLDL, or other oxidative stress markers after 2 months of acetylsalicylic acid treatment., [RefSeq, PubMed]; Rosuvastatin combined with regular exercise preserves coenzyme Q10 levels associated with a significant increase in high-density lipoprotein cholesterol in patients with coronary artery disease, [RefSeq, PubMed]; Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6GMR6;Q6UWB9;Q86X16;Q8TAL2;Q96MF1;Q9BUP4", "ec_number_list": [], "go_molecular_function": "GO:0048039 ubiquinone binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q96MF6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P387-1", "uniprot_id": [ { "id": "CP046_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P387", "type": "external" } ], "mass": 43418.0, "length": 395, "protein_name": "Uncharacterized protein C16orf46", "gene_name": "C16orf46", "organism": "Human", "refseq_name": "uncharacterized protein C16orf46 isoform 1", "refseq_ac": [ { "id": "NP_001094343", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094343", "type": "external" } ], "gene_names_uniprotkb": "C16orf46", "gene_names_refseq": "C16orf46", "protein_names_uniprotkb": "Uncharacterized protein C16orf46", "protein_names_refseq": "uncharacterized protein C16orf46 isoform 1; uncharacterized protein C16orf46", "tax_id": 9606, "disease": "", "pathway": " (hsa:123775)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;23481700;24715725;28218747;28467828;29437277;29557506;31844290;35051231;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96MA7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6P387-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N264-1", "uniprot_id": [ { "id": "RHG24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N264", "type": "external" } ], "mass": 84258.0, "length": 748, "protein_name": "Rho GTPase-activating protein 24", "gene_name": "ARHGAP24", "organism": "Human", "refseq_name": "rho GTPase-activating protein 24 isoform 1", "refseq_ac": [ { "id": "NP_001020787", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020787", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP24; FILGAP", "gene_names_refseq": "ARHGAP24; FILGAP; RC-GAP72; RCGAP72; p73RhoGAP; p73", "protein_names_uniprotkb": "Rho GTPase-activating protein 24; FilGAP; Filamin-A-associated RhoGAP; RAC1- and CDC42-specific GTPase-activating protein of 72 kDa; RC-GAP72; Rho-type GTPase-activating protein 24; RhoGAP of 73 kDa; Sarcoma antigen NY-SAR-88; p73RhoGAP", "protein_names_refseq": "RAC1- and CDC42-specific GTPase-activating protein of 72 kDa; filamin-A-associated RhoGAP; rho GTPase-activating protein 24 isoform 1; rho GTPase-activating protein 24; rhoGAP of 73 kDa; sarcoma antigen NY-SAR-88", "tax_id": 9606, "disease": "", "pathway": " (hsa:83478); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 4, "publication_count": 345, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11230166;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12601173;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15254788;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18786931;18829452;18835169;18838382;18929667;19269969;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21926999;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22869377;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24397554;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25418920;25428919;25576301;25645385;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26359494;26371245;26529257;26598554;26811146;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27862975;27986909;28028151;28112683;28114311;28196833;28584191;28825699;28860633;28904123;29089502;29146911;29358323;29382922;29393594;29557506;30061681;30853411;31105010;31844290;31871319;32157095;32203420;32357974;32387766;32488085;32983136;33141586;33298915;33592498;33710706;33912179;33968037;34185709;34509645;35254053;35580925;36010968;36168627;36284347;37938771;38065968;38742566;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "ARHGAP24 represses beta-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold. Publication Status: Online-Only, [RefSeq, PubMed]; Consistent with structural predictions, strain increases beta-integrin binding to FLNA, whereas it causes FilGAP to dissociate from FLNA, providing a direct and specific molecular basis for cellular mechanotransduction Publication Status: Online-Only, [RefSeq, PubMed]; Exosome-transmitted circular RNA circ-LMO7 facilitates the progression of osteosarcoma by regulating miR-21-5p/ARHGAP24 axis., [RefSeq, PubMed]; FilGAP regulates tumor growth in Glioma through the regulation of mTORC1 and mTORC2. Publication Status: Online-Only, [RefSeq, PubMed]; FilGAP, a GAP protein for Rac, regulates front-rear polarity and tumor cell migration through the ECM., [RefSeq, PubMed]; P73, a vascular cell-specific GTPase-activating protein, is an important modulator of angiogenesis, [RefSeq, PubMed]; Propose that RC-GAP72 affects cellular morphology by targeting activated Cdc42 and Rac1 GTPases to specific subcellular sites, triggering local morphological changes, [RefSeq, PubMed]; Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound state. Controls actin remodeling by inactivating Rac downstream of Rho leading to suppress leading edge protrusion and promotes cell retraction to achieve cellular polarity. Able to suppress RAC1 and CDC42 activity in vitro. Overexpression induces cell rounding with partial or complete disruption of actin stress fibers and formation of membrane ruffles, lamellipodia, and filopodia. Isoform 2 is a vascular cell-specific GAP involved in modulation of angiogenesis., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4KMG1;Q6ZNV3;Q86TI5;Q86WE4;Q9H0T6", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005912 adherens junction;GO:0005925 focal adhesion;GO:0042995 cell projection", "go_biological_process": "GO:1900028 negative regulation of ruffle assembly;GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0035313 wound healing, spreading of epidermal cells", "synthesized_glycan_count": 0, "hit_score": 34.8, "record_id": "Q8N264-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58505-1", "uniprot_id": [ { "id": "CU058_HUMAN", "url": "https://www.uniprot.org/uniprot/P58505", "type": "external" } ], "mass": 35003.0, "length": 322, "protein_name": "Uncharacterized protein C21orf58", "gene_name": "C21orf58", "organism": "Human", "refseq_name": "uncharacterized protein C21orf58 isoform 2", "refseq_ac": [ { "id": "NP_001273391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273391", "type": "external" } ], "gene_names_uniprotkb": "C21orf58", "gene_names_refseq": "C21orf58", "protein_names_uniprotkb": "Uncharacterized protein C21orf58", "protein_names_refseq": "uncharacterized protein C21orf58 isoform 2; uncharacterized protein C21orf58", "tax_id": 9606, "disease": "", "pathway": " (hsa:54058)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;11707072;31844290;38342622", "class_list": "", "function": "Targeting C21orf58 is a Novel Treatment Strategy of Hepatocellular Carcinoma by Disrupting the Formation of JAK2/C21orf58/STAT3 Complex., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KPI1;Q8N7N9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P58505-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61018-1", "uniprot_id": [ { "id": "RAB4B_HUMAN", "url": "https://www.uniprot.org/uniprot/P61018", "type": "external" } ], "mass": 23587.0, "length": 213, "protein_name": "Ras-related protein Rab-4B", "gene_name": "RAB4B", "organism": "Human", "refseq_name": "ras-related protein Rab-4B", "refseq_ac": [ { "id": "NP_057238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057238", "type": "external" } ], "gene_names_uniprotkb": "RAB4B; PP1596; RAB4", "gene_names_refseq": "RAB4B", "protein_names_uniprotkb": "Ras-related protein Rab-4B; 3.6.5.2", "protein_names_refseq": "ras-related GTP-binding protein 4b; ras-related protein Rab-4B; small GTP binding protein RAB4B", "tax_id": 9606, "disease": "", "pathway": " (hsa:53916); (R-HSA-6798695); (R-HSA-8873719); (R-HSA-8875656)", "pathway_count": 4, "publication_count": 61, "publication_id_list": "11141079;11237011;11389151;11447212;11675392;15498874;16401880;1648736;17114793;17411337;18507432;18532927;19590752;19603039;20534812;21664574;22223895;22694141;23186163;23650620;24023390;25341920;25418920;25502872;26929215;26969162;28218747;28306719;28467828;28649982;29242379;29393594;29557506;29632046;29632711;29946045;30566860;30573663;30626607;32350084;32983136;33043033;33592498;33912179;33968037;34357683;34932366;35051231;35154160;35251023;35561310;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8692836;8836150", "class_list": "", "function": "Data conclude that Rab4b is a new important player in the control of GLUT4 trafficking in adipocyte. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of RAB4B reduces the release of intact virion particles, suggesting that it plays a role in virion assembly and egress. Publication Status: Online-Only, [RefSeq, PubMed]; Real-time RT-PCR assays showed that expressions of MIA and MIA-RAB4B located 35 kb upstream of the deletion, were up-regulated in the polyps compared to the matched mucosa of the proband. MIA-RAB4B, the read-through long non-coding RNA (lncRNA), RAB4B, PIM2 and TAOK1 share common binding site of a microRNA, miR-24, in their 3'UTRs Publication Status: Online-Only, [RefSeq, PubMed]; The obesity-induced loss of Rab4b in adipose T cells may contribute to maladaptive white adipose tissue remodeling and insulin resistance by altering adipose T cell fate., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB4B mediates endosomal tethering and fusion through the interaction with RUFY1 and RAB14 (PubMed:20534812). Acts as a regulator of platelet alpha-granule release during activation and aggregation of platelets (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P22750;Q7Z514;Q9HBR6", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0055037 recycling endosome;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0015031 protein transport;GO:0030100 regulation of endocytosis;GO:0016192 vesicle-mediated transport;GO:0034058 endosomal vesicle fusion;GO:0032482 Rab protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P61018-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26010-1", "uniprot_id": [ { "id": "ITB7_HUMAN", "url": "https://www.uniprot.org/uniprot/P26010", "type": "external" } ], "mass": 86903.0, "length": 798, "protein_name": "Integrin beta-7", "gene_name": "ITGB7", "organism": "Human", "refseq_name": "integrin beta-7 isoform a precursor", "refseq_ac": [ { "id": "NP_000880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000880", "type": "external" } ], "gene_names_uniprotkb": "ITGB7", "gene_names_refseq": "ITGB7", "protein_names_uniprotkb": "Integrin beta-7; Gut homing receptor beta subunit", "protein_names_refseq": "gut homing receptor beta subunit; integrin beta 7 subunit; integrin beta-7 isoform a precursor; integrin beta-7", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:3695); (R-HSA-198933); (R-HSA-216083)", "pathway_count": 3, "publication_count": 235, "publication_id_list": "10209034;10366422;10438935;10499918;10543983;10593924;10605720;10640428;10673366;10713152;10746781;10811134;10837471;10982388;11158588;11237011;11265639;11489943;11513152;11518510;11556966;11572855;11713259;11807247;11857637;11858820;11861603;11955593;11955595;11955599;11980922;12213321;12297042;12483297;12496264;12585966;12588680;12682249;12682293;12807887;1382574;14608374;14719373;14970179;15034010;15136729;15155468;15187158;15240572;15304001;15330449;15345499;15383545;1542691;15534202;15541655;15580655;15607800;15713743;15778510;15781451;15800062;15851719;15864273;1588291;15899827;16002701;16014749;16051604;16091383;16129954;16239428;16339513;16380601;16455489;16551255;16731529;16737824;16754661;16754721;16893496;16904340;16928187;16933105;17045824;17057721;17237375;17337780;17339034;1750505;1777426;17968485;18031695;18037897;18055229;18209062;18234675;18264102;18593354;18710925;18775695;18991276;19149696;19359216;19502598;19592130;19828450;20033473;2010551;2040616;20705068;20730098;2083230;21241660;21800138;21841309;21877119;22009320;22232704;22396535;22424782;22539938;22645359;22884367;23374253;23481700;23695528;23929856;24190977;24305946;24366607;24714562;24715725;25418920;25505266;25576301;25703557;25716998;26024233;26154972;26284469;26300885;26375851;26758079;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;31092671;31154438;31217245;31844290;31998317;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33633747;33691108;33717175;33912179;33936100;33968037;34093574;34134578;34211107;34357683;34509645;34561969;34932366;35051231;35154160;35318648;35580925;36581221;36737807;37074911;37938771;38781659;40914422;7505120;7525578;7531291;7541634;7542249;7542404;7559467;7685013;8118028;8178173;8344274;8560266;8798654;8838667;8910476;8995416;9251239;9285412;9314561;9443892;9565552;9700512;9730896;9858236", "class_list": "", "function": "(Microbial infection) Binds to HIV-1 gp120, thereby allowing the virus to enter GALT, which is thought to be the major trigger of AIDS disease. Interaction would involve a tripeptide L-D-I in HIV-1 gp120., [UniProtKB, PubMed]; Cryo-EM structure of I domain-containing integrin alphaEbeta7., [RefSeq, PubMed]; Expression of integrin beta-7 is epigenetically enhanced in multiple myeloma subgroups with high-risk cytogenetics. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated analysis reveals the participation of IL4I1, ITGB7, and FUT7 in reshaping the TNBC immune microenvironment by targeting glycolysis., [RefSeq, PubMed]; Integrin ITGA4/ITGB7 (alpha-4/beta-7) (Peyer patches-specific homing receptor LPAM-1) is an adhesion molecule that mediates lymphocyte migration and homing to gut-associated lymphoid tissue (GALT) (Probable). Integrin ITGA4/ITGB7 interacts with the cell surface adhesion molecules MADCAM1 which is normally expressed by the vascular endothelium of the gastrointestinal tract (PubMed:10837471, PubMed:14608374). Also interacts with VCAM1 and fibronectin, an extracellular matrix component (Probable). It recognizes one or more domains within the alternatively spliced CS-1 region of fibronectin (Probable). Interactions involve the tripeptide L-D-T in MADCAM1, and L-D-V in fibronectin (Probable). Integrin ITGAE/ITGB7 (alpha-E/beta-7, HML-1) is a receptor for E-cadherin (PubMed:10837471)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q9UCP7;Q9UCS7", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0046872 metal ion binding;GO:0050839 cell adhesion molecule binding;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0007160 cell-matrix adhesion;GO:0033627 cell adhesion mediated by integrin;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 25.0, "record_id": "P26010-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIK4-1", "uniprot_id": [ { "id": "DAPK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIK4", "type": "external" } ], "mass": 42898.0, "length": 370, "protein_name": "Death-associated protein kinase 2", "gene_name": "DAPK2", "organism": "Human", "refseq_name": "death-associated protein kinase 2 isoform 1", "refseq_ac": [ { "id": "NP_055141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055141", "type": "external" } ], "gene_names_uniprotkb": "DAPK2", "gene_names_refseq": "DAPK2; DRP-1; DRP1", "protein_names_uniprotkb": "Death-associated protein kinase 2; 2.7.11.1; DAP kinase 2; DAP-kinase-related protein 1; DRP-1", "protein_names_refseq": "DAP kinase 2; death-associated protein kinase 2 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23604); (R-HSA-418889)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10376525;10629061;11230133;11237011;11248093;11839660;11839665;11980920;12011067;12445458;15310786;15573119;16158190;16756490;17081983;17344846;17347302;18669648;18957423;20166139;21408167;22580283;23186163;23481700;24163421;25576301;26047703;27846572;27920218;28904123;29242379;29393594;29493099;29557506;30429286;31844290;32157095;32357974;32387766;32502341;32938616;33298915;33968037;34298122;34413451;34509645;35051231;35580925;36241641;36636640;9796814", "class_list": "", "function": "14-3-3 proteins inactivate DAPK2 by promoting its dimerization and protecting key regulatory phosphosites. Publication Status: Online-Only, [RefSeq, PubMed]; Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell death signals, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Acts as a mediator of anoikis and a suppressor of beta-catenin-dependent anchorage-independent growth of malignant epithelial cells. May play a role in granulocytic maturation (PubMed:17347302). Regulates granulocytic motility by controlling cell spreading and polarization (PubMed:24163421)., [UniProtKB, PubMed, PubMed, PubMed]; Cigarette smoking induces aberrant N(6)-methyladenosine of DAPK2 to promote non-small cell lung cancer progression by activating NF-kappaB pathway., [RefSeq, PubMed]; Distinct methylation pattern in bladder cancer with frequent methylation of RARbeta, DAPK, E-cadherin, and p16., [RefSeq, PubMed]; Exosomal miR-133a-3p Derived from BMSCs Alleviates Cerebral Ischemia-Reperfusion Injury via Targeting DAPK2. Publication Status: Online-Only, [RefSeq, PubMed]; High frequency of promoter hypermethylation of the death-associated protein-kinase gene in nasopharyngeal carcinoma and its detection in the peripheral blood of patients, [RefSeq, PubMed]; Isoform 2 is not regulated by calmodulin. It can phosphorylate MYL9. It can induce membrane blebbing and autophagic cell death., [UniProtKB]; This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 10, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9JGM7;O75892;Q24JS1", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031410 cytoplasmic vesicle;GO:0034423 autophagosome lumen", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0010506 regulation of autophagy;GO:0035556 intracellular signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9UIK4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y282-1", "uniprot_id": [ { "id": "ERGI3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y282", "type": "external" } ], "mass": 43222.0, "length": 383, "protein_name": "Endoplasmic reticulum-Golgi intermediate compartment protein 3", "gene_name": "ERGIC3", "organism": "Human", "refseq_name": "endoplasmic reticulum-Golgi intermediate compartment protein 3 isoform b", "refseq_ac": [ { "id": "NP_057050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057050", "type": "external" } ], "gene_names_uniprotkb": "ERGIC3; C20orf47; CGI-54; ERV46; PRO0989; SDBCAG84", "gene_names_refseq": "C20orf47; C2orf47; CGI-54; ERGIC3; Erv46; NY-BR-84; PRO0989; SDBCAG84; dJ477O4.2", "protein_names_uniprotkb": "Endoplasmic reticulum-Golgi intermediate compartment protein 3; Serologically defined breast cancer antigen NY-BR-84", "protein_names_refseq": "endoplasmic reticulum-Golgi intermediate compartment protein 3 isoform b; endoplasmic reticulum-Golgi intermediate compartment protein 3; endoplasmic reticulum-localized protein ERp43; serologically defined breast cancer antigen 84; serologically defined breast cancer antigen NY-BR-84", "tax_id": 9606, "disease": "lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:51614)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "10.1074/mcp.M114.046862;11237011;12747765;15308636;16959974;17020792;19159218;22661428;22898188;23186163;23481700;24714562;24715725;25576301;25645385;25813380;25880248;25892735;26154972;26375851;26728094;26992070;27600516;27846572;27862975;27920218;28228285;28832583;28904123;29493099;29557506;29602958;30115740;30315122;30410026;30459171;30484775;30779550;30833945;31142615;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34725712;34932366;35051231;35154160;35251023;35318648;35580925;35602902;36010968;36215666;36241641;36284347;36581221;37938771;38665916", "class_list": "", "function": "MARCH2 reduced secretion of alpha1-antitrypsin and haptoglobin, and coexpression of the ubiquitination-resistant ERGIC3 variant largely restored their secretion, suggesting that MARCH2-mediated ERGIC3 ubiquitination is the major cause of the decrease in trafficking of ERGIC3-binding secretory proteins., [RefSeq, PubMed]; Plays a role in transport between endoplasmic reticulum and Golgi., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Plays important roles in cell growth and endoplasmic reticulum stress-induced cell death., [RefSeq, PubMed]; Possible role in transport between endoplasmic reticulum and Golgi. Positively regulates trafficking of the secretory proteins SERPINA1/alpha1-antitrypsin and HP/haptoglobin (PubMed:31142615)., [UniProtKB, PubMed]; Transcriptome changes in ERGIC3-knockdown hepatocellular carcinoma cells: ERGIC3 is a novel immune function related gene. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5JWS3;Q6ZWP7;Q9H276;Q9P1L3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0090316 positive regulation of intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9Y282-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03112-7", "uniprot_id": [ { "id": "MECOM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03112", "type": "external" } ], "mass": 138136.0, "length": 1230, "protein_name": "Histone-lysine N-methyltransferase MECOM", "gene_name": "MECOM", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase MECOM isoform a", "refseq_ac": [ { "id": "NP_001098547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098547", "type": "external" } ], "gene_names_uniprotkb": "MECOM; EVI1; MDS1; PRDM3", "gene_names_refseq": "AML1-EVI-1; EVI1; KMT8E; MDS1-EVI1; MDS1; MECOM; PRDM3; RUSAT2", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase MECOM; 2.1.1.367; EVI-1; Ecotropic virus integration site 1 protein homolog; MDS1 and EVI1 complex locus protein; Myelodysplasia syndrome 1 protein; Myelodysplasia syndrome-associated protein 1", "protein_names_refseq": "AML1-EVI-1 fusion protein; MDS1 and EVI1 complex locus protein EVI1; MDS1 and EVI1 complex locus protein MDS1; PR domain 3; ecotropic virus integration site 1 protein homolog; histone-lysine N-methyltransferase MECOM isoform a; histone-lysine N-methyltransferase MECOM; myelodysplasia syndrome-associated protein 1; oncogene EVI1; zinc finger protein Evi1", "tax_id": 9606, "disease": "myeloid neoplasm (Disease Ontology:DOID:0070004); otitis media (Disease Ontology:DOID:10754); radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (MONDO:MONDO:0014758)", "pathway": " (hsa:2122); (R-HSA-3214841); (R-HSA-8943724); (R-HSA-9830364)", "pathway_count": 4, "publication_count": 95, "publication_id_list": "10856240;10949293;11050005;11378386;11545734;11568182;11781575;11959841;11959846;12123582;12130538;12453418;12540855;12670868;14536086;14690610;14992727;15145825;15235609;15897867;15964846;16014322;16118227;16199523;16292313;16418168;16462766;16519522;16676006;16682010;16702404;16805913;17021013;17081983;17500065;17544230;17707229;17873065;17974977;18172008;18172012;18181178;18220336;18391013;18487508;19440552;19767769;19808676;19884659;20068231;20233713;20516213;21131967;2115646;21196496;21289308;21779408;21832073;22099308;22128185;22939622;23186163;23287862;24718924;25218447;25728608;25772364;26581901;26910647;28832583;29485866;29557506;30462309;31154438;31844290;31848261;32157095;32161166;33592498;33912179;33968037;33981976;34185709;35051231;35494241;35580925;36284347;37407873;37610030;38748089;38748792;8313895;8643684;8700545;9665135", "class_list": "", "function": "A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure., [RefSeq, PubMed]; Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1). Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation. Likely to be one of the primary histone methyltransferases along with PRDM16 that direct cytoplasmic H3K9me1 methylation., [UniProtKB, UniProtKB]; EVI1 and MDS1/EVI1 overexpression is associated with acute myeloid leukemia, [RefSeq, PubMed]; Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development. Review article, [RefSeq, PubMed]; Oncogene EVI1 drives acute myeloid leukemia via a targetable interaction with CTBP2., [RefSeq, PubMed]; Outcome of 3q26.2/MECOM rearrangements in chronic myeloid leukemia., [RefSeq, PubMed]; The general expression patterns of the EVI1 5'-end variants in a panel of 20 human tissues were similar, while pronounced differences were noted in response to all-trans retinoic acid., [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A1L4F3;A8KA00;B7Z8W7;B7ZLQ3;B7ZLQ4;C9JAK0;D3DNP7;E7EQ57;Q13465;Q13466;Q16122;Q5HYI1;Q6FH90;Q6MZS6;Q8NEI5;Q99917", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "1.14.99.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.66", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.1.1.366", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.366", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006915 apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q03112-7", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SQ0-1", "uniprot_id": [ { "id": "PHLB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SQ0", "type": "external" } ], "mass": 142158.0, "length": 1253, "protein_name": "Pleckstrin homology-like domain family B member 2", "gene_name": "PHLDB2", "organism": "Human", "refseq_name": "pleckstrin homology-like domain family B member 2 isoform b", "refseq_ac": [ { "id": "NP_001127909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127909", "type": "external" } ], "gene_names_uniprotkb": "PHLDB2; LL5B", "gene_names_refseq": "LL5beta; LL5b; PHLDB2", "protein_names_uniprotkb": "Pleckstrin homology-like domain family B member 2; Protein LL5-beta", "protein_names_refseq": "LL5 beta; pleckstrin homology-like domain family B member 2 isoform b; protein LL5-beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:90102)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11001876;11237011;12376540;16824950;18220336;18669648;19690332;20068231;21406692;23186163;23525008;24120883;24275569;24715725;25576301;25892735;27600516;27846572;27862975;28649982;28834231;29393594;29557506;29632046;30379171;30429286;30484775;30779550;30833945;31154438;31373491;31844290;31848261;32157095;32161166;32387766;32938616;33452458;33592498;33968037;33981976;34171305;34337001;34952201;35051231;35513511;35580925;36241641;36284347;37437062;38397469;38665916;40596516", "class_list": "", "function": "Depletion of PHLDB2 Suppresses Epithelial-Mesenchymal Transition and Enhances Anti-Tumor Immunity in Head and Neck Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Interfering with the ERC1-LL5beta interaction disrupts plasma membrane-Associated platforms and affects tumor cell motility. Publication Status: Online-Only, [RefSeq, PubMed]; LL5beta and ELKS can form a PIP3-regulated cortical platform to which CLASPs attach distal microtubule ends., [RefSeq, PubMed]; NOTCH3, a crucial target of miR-491-5p/miR-875-5p, promotes gastric carcinogenesis by upregulating PHLDB2 expression and activating Akt pathway., [RefSeq, PubMed]; PHLDB2 Mediates Cetuximab Resistance via Interacting With EGFR in Latent Metastasis of Colorectal Cancer., [RefSeq, PubMed]; RNA-seq-Based Screening in Coal Dust-Treated Cells Identified PHLDB2 as a Novel Lung Cancer-Related Molecular Marker. Publication Status: Online-Only, [RefSeq, PubMed]; Seems to be involved in the assembly of the postsynaptic apparatus. May play a role in acetyl-choline receptor (AChR) aggregation in the postsynaptic membrane (By similarity)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A5PKZ3;Q59EA8;Q68CY3;Q6NT98;Q8N8U8;Q8NAB1;Q8NCU5", "ec_number_list": [], "go_molecular_function": "GO:0045296 cadherin binding", "go_cellular_component": "GO:0045180 basal cortex;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0031252 cell leading edge", "go_biological_process": "GO:1903690 negative regulation of wound healing, spreading of epidermal cells;GO:0016477 cell migration;GO:0045184 establishment of protein localization;GO:0051895 negative regulation of focal adhesion assembly;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q86SQ0-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95243-1", "uniprot_id": [ { "id": "MBD4_HUMAN", "url": "https://www.uniprot.org/uniprot/O95243", "type": "external" } ], "mass": 66051.0, "length": 580, "protein_name": "Methyl-CpG-binding domain protein 4", "gene_name": "MBD4", "organism": "Human", "refseq_name": "methyl-CpG-binding domain protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001263199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263199", "type": "external" } ], "gene_names_uniprotkb": "MBD4; MED1", "gene_names_refseq": "MBD4; MED1; TPDS2; UVM1", "protein_names_uniprotkb": "Methyl-CpG-binding domain protein 4; 3.2.2.-; Methyl-CpG-binding endonuclease 1; Methyl-CpG-binding protein MBD4; Mismatch-specific DNA N-glycosylase", "protein_names_refseq": "3,N(4)-ethenocytosine glycosylase; G/5-fluorouracil mismatch glycosylase with biphasic kinetics; G/T mismatch glycosylase; G/U mismatch glycosylase; methyl-CpG binding domain protein 4; methyl-CpG-binding domain protein 4 isoform 2; methyl-CpG-binding endonuclease 1; methyl-CpG-binding protein MBD4; mismatch-specific DNA N-glycosylase; putative methyl-CpG binding protein", "tax_id": 9606, "disease": "colorectal carcinoma (Disease Ontology:DOID:0080199); lung cancer (Disease Ontology:DOID:1324); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); uveal melanoma (Disease Ontology:DOID:6039); rheumatoid arthritis (Disease Ontology:DOID:7148); tumor predisposition syndrome 2 (MONDO:MONDO:0859267)", "pathway": " (hsa:8930); (R-HSA-110328); (R-HSA-110329); (R-HSA-110357)", "pathway_count": 4, "publication_count": 108, "publication_id_list": "10.1101/2023.09.13.557529;10074426;10097147;10441743;10882850;10930409;11056019;11139613;11160897;11237011;11889051;11904416;12097317;12140329;12456671;12519758;12702765;12718543;15341901;15479784;15713479;15823533;16221681;16803845;17143486;17537817;18669648;18805789;19469655;21722948;22569481;22645359;22848106;22962365;23027038;23186163;23481700;24714562;24715725;25086253;25576301;26024233;26095805;26154972;26992070;27354518;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29786170;30049810;30315122;30379171;30410026;30714079;30779550;31154438;31217245;31222486;31322271;31530632;31844290;31848261;32157095;32239153;32357974;32387766;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33717175;33871441;33968037;34107280;34211107;35051231;35460607;35580925;35863105;36010968;37957685;38060262;40596516;8218289;8407958;8662714;9200707;9705289;9724657;9774669;9811839;9890904", "class_list": "", "function": "Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants., [RefSeq, PubMed]; MBD4 deficiency is predictive of response to immune checkpoint inhibitors in metastatic uveal melanoma patients., [RefSeq, PubMed]; MBD4 loss results in global reactivation of promoters and retroelements with low methylated CpG density. Publication Status: Online-Only, [RefSeq, PubMed]; Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein., [UniProtKB, PubMed, PubMed]; Structural Insights into the Mechanism of Base Excision by MBD4., [RefSeq, PubMed]; The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]., [RefSeq]; [Comparative Analysis of the Activity of the Polymorphic Variants of Human Uracil-DNA-Glycosylases SMUG1 and MBD4]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DZN2;D3DNC3;D3DNC4;E9PEE4;Q2MD36;Q7Z4T3;Q96F09", "ec_number_list": [ { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0019104 DNA N-glycosylase activity;GO:0004520 DNA endonuclease activity;GO:0003696 satellite DNA binding;GO:0008263 pyrimidine-specific mismatch base pair DNA N-glycosylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006281 DNA repair;GO:0032355 response to estradiol;GO:0045008 depyrimidination", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "O95243-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZV65-3", "uniprot_id": [ { "id": "FA47E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZV65", "type": "external" } ], "mass": 45662.0, "length": 393, "protein_name": "Protein FAM47E", "gene_name": "FAM47E", "organism": "Human", "refseq_name": "protein FAM47E isoform a", "refseq_ac": [ { "id": "NP_001130042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130042", "type": "external" } ], "gene_names_uniprotkb": "FAM47E", "gene_names_refseq": "FAM47E", "protein_names_uniprotkb": "Protein FAM47E", "protein_names_refseq": "protein FAM47E isoform a; protein FAM47E", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129583); (hsa:100631383)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "26224037;29557506;31154438;32502341;33376131;35051231;35580925;39894887", "class_list": "", "function": "Findings suggested that STX1B rs4889603, FAM47E rs6812193 and SCARB2 rs6825004 do not confer a significant risk for Parkinson's disease, [RefSeq, PubMed]; Promotes histone methylation by localizing the arginine methyltransferase PRMT5 to chromatin., [UniProtKB, PubMed]; The uncharacterized protein FAM47E interacts with PRMT5 and regulates its functions. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6R8Y4", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0071168 protein localization to chromatin", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6ZV65-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQ84-1", "uniprot_id": [ { "id": "EXO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQ84", "type": "external" } ], "mass": 94103.0, "length": 846, "protein_name": "Exonuclease 1", "gene_name": "EXO1", "organism": "Human", "refseq_name": "exonuclease 1 isoform a", "refseq_ac": [ { "id": "NP_003677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003677", "type": "external" } ], "gene_names_uniprotkb": "EXO1; EXOI; HEX1", "gene_names_refseq": "EXO1; HEX1; hExoI", "protein_names_uniprotkb": "Exonuclease 1; 3.1.-.-; Exonuclease I; hExo1; hExoI", "protein_names_refseq": "exonuclease 1 isoform a; rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1", "tax_id": 9606, "disease": "primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:9156); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)", "pathway_count": 18, "publication_count": 332, "publication_id_list": "10078208;10212258;10364235;10373512;10435622;10438626;10473346;10500146;10551859;10570149;10570174;10604467;10608837;10660545;10673500;10673501;10710310;10733923;10744977;10801132;10856253;10856833;10859164;10884347;10921897;10938287;11005803;11006276;11080452;11139606;11237011;11239457;11274057;11301010;11375940;11376695;11390642;11427529;11429708;11441019;11447225;11459987;11511362;11546806;11551930;11571269;11698410;11740489;11751635;11780126;11809771;11809883;11832208;11842105;11884592;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12414623;12517792;12545175;12578958;12686547;12702766;12704184;12721304;12750383;12791985;12851404;12912992;12914926;14527420;14576433;14623461;14636568;14676842;14702041;14716019;14734547;14756672;15053879;15189136;15190204;15225546;15359272;15485900;15550454;15665856;15703751;15707391;15866171;15886194;15916957;16143102;16148040;16153896;16188885;16322561;16327781;16337601;16360315;16464020;16530042;16793375;16793542;16855289;16873062;16885023;17108107;17114795;17200668;17200671;17200672;17289582;17349958;17420451;17426132;17515903;17525332;17531815;17575048;17591690;17928296;17962301;17965729;17984070;17996710;17996711;18048416;18079015;18171670;18317453;18326858;18490454;18539610;18541667;18669648;18757400;18805091;18923075;18957201;18971343;18991276;19074197;19121998;19228687;19268590;19357644;19369211;19419957;19584259;19596236;19609323;19846925;19941829;19965871;20019063;20154325;20154705;20160730;20207730;20233725;20337148;20571119;20713735;20729832;20729858;20729859;20871615;20871616;20959462;20965415;20970388;21052091;21240188;21263215;21317932;21325134;21335604;21496642;21520333;21561855;21565612;21659603;21680713;21777809;21804533;21937421;22021381;22024395;22118461;22179786;22194698;22231403;22277660;22296401;22593209;22635276;22645308;22661229;22661230;22792074;22977173;23000554;23065663;23149936;23186163;23345434;23391514;23468639;23481700;23485397;23509288;23622243;23676219;23686288;23731732;23754376;23810717;23840062;24013206;24076221;24141787;24145406;24371268;24485656;24509834;24714562;24715725;24761866;24831703;24874608;25113031;25122754;25418920;25558984;25576301;25659039;25860647;26145171;26154972;26375851;26728094;26992070;27600516;27846572;27899578;27920218;28089683;28158555;28218747;28240985;28319063;2842325;28514659;28832583;28834231;28904123;29165669;29242379;29508533;29605689;29608566;29930882;3004351;30289697;30311374;30410026;30620550;30779550;31217245;31222486;31530632;31586400;31636395;31757951;31844290;32157095;32161166;32357974;32387766;32502341;32732220;32897882;32938616;33141586;33195396;33298915;33691108;33717175;33912179;33968037;33978741;33981976;34171305;34440403;34552057;34561969;35051231;35580925;36010968;36172813;36241641;38126949;38266640;38279172;38721777;39121215;8128251;8505312;8702565;8805365;9099749;9294177;9428522;9430682;9469823;9677427;9685493;9705271;9788596;9822680;9823303;9837724;9882630;9925639", "class_list": "", "function": "5'->3' double-stranded DNA exonuclease which may also possess a cryptic 3'->5' double-stranded DNA exonuclease activity. Functions in DNA mismatch repair., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Cyclin F-EXO1 axis controls cell cycle-dependent execution of double-strand break repair., [RefSeq, PubMed]; Dynamic regulation of EXO1 promotes the progression from liver fibrosis to HCC through TGF-beta1/Smad signaling feedback loop. Publication Status: Online-Only, [RefSeq, PubMed]; EXO1 and DNA2-mediated ssDNA gap expansion is essential for ATR activation and to maintain viability in BRCA1-deficient cells., [RefSeq, PubMed]; EXO1 protects BRCA1-deficient cells against toxic DNA lesions., [RefSeq, PubMed]; EXO1/P53/SREBP1 axis-regulated lipid metabolism promotes prostate cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O60545;O75214;O75466;Q5T396;Q96IJ1;Q9UG38;Q9UNW0", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.-", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0046872 metal ion binding;GO:0004523 RNA-DNA hybrid ribonuclease activity;GO:0004527 exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0006298 mismatch repair;GO:0090656 t-circle formation;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 33.6, "record_id": "Q9UQ84-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M2W7-1", "uniprot_id": [ { "id": "CQ058_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M2W7", "type": "external" } ], "mass": 36985.0, "length": 339, "protein_name": "UPF0450 protein C17orf58", "gene_name": "C17orf58", "organism": "Human", "refseq_name": "UPF0450 protein C17orf58 isoform a", "refseq_ac": [ { "id": "NP_858041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_858041", "type": "external" } ], "gene_names_uniprotkb": "C17orf58", "gene_names_refseq": "C17orf58", "protein_names_uniprotkb": "UPF0450 protein C17orf58", "protein_names_refseq": "UPF0450 protein C17orf58 isoform a; UPF0450 protein C17orf58", "tax_id": 9606, "disease": "", "pathway": " (hsa:284018)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;25418920;28834231;29632046", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1B0GTI9;A8MQV2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031012 extracellular matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q2M2W7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75369-1", "uniprot_id": [ { "id": "FLNB_HUMAN", "url": "https://www.uniprot.org/uniprot/O75369", "type": "external" } ], "mass": 278164.0, "length": 2602, "protein_name": "Filamin-B", "gene_name": "FLNB", "organism": "Human", "refseq_name": "filamin-B isoform 1", "refseq_ac": [ { "id": "NP_001157789", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157789", "type": "external" } ], "gene_names_uniprotkb": "FLNB; FLN1L; FLN3; TABP; TAP", "gene_names_refseq": "ABP-278; ABP-280; FH1; FLN-B; FLN1L; FLNB; LRS1; TABP; TAP", "protein_names_uniprotkb": "Filamin-B; ABP-278; ABP-280 homolog; Actin-binding-like protein; Beta-filamin; FLN-B; Fh1; Filamin homolog 1; Filamin-3; Thyroid autoantigen; Truncated ABP; Truncated actin-binding protein", "protein_names_refseq": "ABP-280 homolog; Larsen syndrome 1 (autosomal dominant); actin binding protein 278; actin-binding-like protein; beta-filamin; filamin B, beta; filamin homolog 1; filamin-3; filamin-B isoform 1; thyroid autoantigen", "tax_id": 9606, "disease": "atelosteogenesis (Disease Ontology:DOID:0050648); Boomerang dysplasia (Disease Ontology:DOID:0050680); spinal disease (Disease Ontology:DOID:0060564); bone development disease (Disease Ontology:DOID:0080006); myofibrillar myopathy 5 (Disease Ontology:DOID:0080096); spondylocarpotarsal synostosis syndrome (Disease Ontology:DOID:0090116); distal myopathy 4 (Disease Ontology:DOID:0111190); clubfoot (Disease Ontology:DOID:11836); Larsen syndrome (Disease Ontology:DOID:14764); cancer (Disease Ontology:DOID:162); osteochondrodysplasia (Disease Ontology:DOID:2256); myopathy (Disease Ontology:DOID:423); cleft palate (Disease Ontology:DOID:674)", "pathway": " (hsa:2317); (R-HSA-1169408)", "pathway_count": 2, "publication_count": 205, "publication_id_list": "10.1101/2023.09.13.557529;10754391;11095724;11112487;11153914;11157743;11230166;11237011;11252955;11336782;11739414;11788588;11807098;12393796;12496242;12525170;12525615;12582176;14654843;14991055;15131269;15485925;15592455;15702989;15994868;16009940;16076904;16106752;16112642;16122702;16139798;16352599;16407192;16428300;16699525;16715065;16775314;16801345;16815975;16872604;16914094;16959974;16964243;17289916;17322306;17376915;17389395;17924679;18083107;18287095;18305167;18452278;18487259;18583345;18669648;18691976;18767875;18991276;19073728;19125153;19270716;19300455;19415658;19505475;19608861;19651622;19664994;19664995;19690332;19691289;20068231;20112406;20133869;20166139;20219937;20308324;20385878;21136679;22544926;23186163;23301498;23481700;24275569;24715725;24958902;25418920;25469497;25505266;25576301;25645385;25880248;25892735;26154972;26375851;26768311;26811146;26853435;26992070;27397612;27452731;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29317506;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29671580;29769354;29786170;29789417;30315122;30379171;30397120;30410026;30444036;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32373127;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34171305;34185709;34229054;34357683;34509645;34561969;34725712;35008409;35051231;35083852;35251023;35254053;35318648;35561310;35580925;35705054;36010968;36215666;36241641;36284347;36581221;37074911;37938771;38665916;38743867;38880187;40307207;40596516;7559393;8327473;9437013;9525617;9651345;9694715", "class_list": "", "function": "A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro., [UniProtKB]; ETS homologous factor, controlled by lysine-specific demethylase 5B, suppresses clear cell renal cell carcinoma by inducing Filamin-B., [RefSeq, PubMed]; High-resolution X-ray crystal structures of the human filamin B wild type actin-binding domain, plus W148R and M202V mutants., [RefSeq, PubMed]; This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 41, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 76, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 13, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B2ZZ83;B2ZZ84;B2ZZ85;C9JKE6;C9JMC4;Q13706;Q59EC2;Q60FE7;Q6MZJ1;Q8WXS9;Q8WXT0;Q8WXT1;Q8WXT2;Q8WXT3;Q9NRB5;Q9NT26;Q9UEV9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0005925 focal adhesion", "go_biological_process": "GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0030036 actin cytoskeleton organization;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "O75369-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70SY1-1", "uniprot_id": [ { "id": "CR3L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70SY1", "type": "external" } ], "mass": 57415.0, "length": 520, "protein_name": "Cyclic AMP-responsive element-binding protein 3-like protein 2", "gene_name": "CREB3L2", "organism": "Human", "refseq_name": "cyclic AMP-responsive element-binding protein 3-like protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001240704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240704", "type": "external" } ], "gene_names_uniprotkb": "CREB3L2; BBF2H7", "gene_names_refseq": "BBF2H7; CREB3L2", "protein_names_uniprotkb": "Cyclic AMP-responsive element-binding protein 3-like protein 2; BBF2 human homolog on chromosome 7; cAMP-responsive element-binding protein 3-like protein 2", "protein_names_refseq": "B-ZIB transcription factor; BBF2 human homolog on chromosome 7; FUS/BBF2H7 protein; TCAG_1951439; basic transcription factor 2; cAMP-responsive element-binding protein 3-like protein 2; cyclic AMP-responsive element-binding protein 3-like protein 2 isoform 2; cyclic AMP-responsive element-binding protein 3-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64764); (R-HSA-8874211)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11353085;11830526;12138176;12915480;15139001;16236796;16469704;16940180;17081983;17117415;17178827;17712038;17721195;17875199;18391022;18669648;18757431;19883396;20068231;20546900;21767813;22544926;22705851;23186163;23256041;23481700;24126059;24190977;24366607;25218447;25418920;25576301;25625847;25645385;25755297;25772364;25880248;25892735;25955804;26375851;26810754;26811146;26929215;26992070;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29536501;29557506;29632046;29632711;29769354;29786170;29789417;30429286;30524438;31092671;31530632;31611695;31844290;31914686;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33618248;33717175;33803345;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34561969;34611310;34932366;35051231;35251023;35318648;35580925;36010968;36241641;36284347;37074911;37938771;9271389", "class_list": "", "function": "BBF2H7 was fused with FUS in a low grade myxoid liposarcoma., [RefSeq, PubMed]; BBF2H7, a novel transmembrane bZIP transcription factor, is a new type of endoplasmic reticulumm stress transducer., [RefSeq, PubMed]; CREB3L2 is not only structurally, but also functionally very similar to CREB3L1., [RefSeq, PubMed]; Comparative Analysis of CREB3 and CREB3L2 Protein Expression in HEK293 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Findings identify a novel CREB3L2-PPARgamma gene fusion mutation in thyroid carcinoma and reveal a thyroid signaling pathway that is regulated by intramembrane proteolysis and disrupted in cancer, [RefSeq, PubMed]; Found BBF2H7-derived small peptide fragments located between the site-1 protease and site-1 protease cleavage sites in cells exposed to ER stress, [RefSeq, PubMed]; MicroRNA-92b-3p promotes the progression of liver fibrosis by targeting CREB3L2 through the JAK/STAT signaling pathway., [RefSeq, PubMed]; Presence of FUS/CREB3L2 and FUS/CREB3L1 in low-grade fibromyxoid sarcoma and sclerosing epithelioid fibrosarcoma suggests these neoplasms may be related., [RefSeq, PubMed]; Single-cell analysis reveals androgen receptor regulates the ER-to-Golgi trafficking pathway with CREB3L2 to drive prostate cancer progression., [RefSeq, PubMed]; This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in chondrogenesis by activating the transcription of SEC23A, which promotes the transport and secretion of cartilage matrix proteins, and possibly that of ER biogenesis-related genes (By similarity). In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcription of target genes via direct binding to the CRE site (PubMed:17178827)., [UniProtKB, UniProtKB, PubMed]; Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6P454;Q6ZMR6", "ec_number_list": [], "go_molecular_function": "GO:0000976 transcription cis-regulatory region binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0035497 cAMP response element binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0002062 chondrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q70SY1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8K979-1", "uniprot_id": [ { "id": "ERI2_HUMAN", "url": "https://www.uniprot.org/uniprot/A8K979", "type": "external" } ], "mass": 77401.0, "length": 691, "protein_name": "ERI1 exoribonuclease 2", "gene_name": "ERI2", "organism": "Human", "refseq_name": "ERI1 exoribonuclease 2 isoform 1", "refseq_ac": [ { "id": "NP_001136197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136197", "type": "external" } ], "gene_names_uniprotkb": "ERI2; EXOD1; KIAA1504", "gene_names_refseq": "ERI2; EXOD1; ZGRF5", "protein_names_uniprotkb": "ERI1 exoribonuclease 2; 3.1.-.-; Exonuclease domain-containing protein 1", "protein_names_refseq": "ERI1 exoribonuclease 2 isoform 1; ERI1 exoribonuclease 2; enhanced RNAi three prime mRNA exonuclease homolog 2; exonuclease domain containing 1; exonuclease domain-containing protein 1; exoribonuclease 2; zinc finger, GRF-type containing 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:112479)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16959974;17135487;18507432;19913121;20628086;25576301;25892735;26375851;26992070;28218747;28832583;29437277;29557506;29605689;29769354;30315122;30379171;30779550;31217245;31844290;32157095;32357974;32387766;32938616;33537174;33691108;34087483;34171305;35051231;35561310;37938771", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This paper describes a detailed biochemical and genetic characterization of the exonuclease Snipper, the Drosophila ortholog of EXOD1. It identifies EXOD1 as a member of a new subclass of exonucleases called the 3'hExo/ERI-1 subfamily of DEDDh nucleases., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZSJ2;Q96FR9;Q9P224;Q9Y6V3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding;GO:0000175 3'-5'-RNA exonuclease activity", "go_cellular_component": "", "go_biological_process": "GO:0000467 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0060906 negative regulation of regulatory ncRNA-mediated heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "A8K979-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5Q1-1", "uniprot_id": [ { "id": "GAR5B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5Q1", "type": "external" } ], "mass": 99915.0, "length": 922, "protein_name": "Golgi-associated RAB2 interactor protein 5B", "gene_name": "GARIN5B", "organism": "Human", "refseq_name": "Golgi-associated RAB2 interactor protein 5B", "refseq_ac": [ { "id": "NP_001138874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138874", "type": "external" } ], "gene_names_uniprotkb": "GARIN5B; C19orf16; FAM71E2", "gene_names_refseq": "C19orf16; FAM71E2; GARIN5B", "protein_names_uniprotkb": "Golgi-associated RAB2 interactor protein 5B", "protein_names_refseq": "Golgi associated RAB2 interactor protein 5B; Golgi-associated RAB2 interactor protein 5B; family with sequence similarity 71 member E2; protein FAM71E2; putative protein FAM71E2", "tax_id": 9606, "disease": "", "pathway": " (hsa:284418)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;19913121;20628086;29557506;31217245;35051231;35494241", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8ND99", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N5Q1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12314-1", "uniprot_id": [ { "id": "FCGR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P12314", "type": "external" } ], "mass": 42632.0, "length": 374, "protein_name": "High affinity immunoglobulin gamma Fc receptor I", "gene_name": "FCGR1A", "organism": "Human", "refseq_name": "high affinity immunoglobulin gamma Fc receptor I isoform 2 precursor", "refseq_ac": [ { "id": "NP_000557", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000557", "type": "external" } ], "gene_names_uniprotkb": "FCGR1A; FCG1; FCGR1; IGFR1", "gene_names_refseq": "CD64A; CD64; FCG1; FCGR1A; FCGR1; FCRI; FcgammaRI; IGFR1", "protein_names_uniprotkb": "High affinity immunoglobulin gamma Fc receptor I; Fc-gamma RIA; Fc-gamma RI; FcRI; FcgammaRIa; IgG Fc receptor I", "protein_names_refseq": "Fc fragment of IgG receptor Ia; Fc fragment of IgG, high affinity Ia, receptor (CD64); Fc fragment of IgG, high affinity Ia, receptor for (CD64); Fc-gamma RI; Fc-gamma receptor I A1; IgG Fc receptor I; fc-gamma RIA; fcgammaRIa; high affinity immunoglobulin gamma Fc receptor I isoform 2 precursor; high affinity immunoglobulin gamma Fc receptor I", "tax_id": 9606, "disease": "rheumatoid arthritis (Disease Ontology:DOID:7148); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:2209); (R-HSA-1236978); (R-HSA-198933); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-877300); (R-HSA-9664323)", "pathway_count": 8, "publication_count": 261, "publication_id_list": "10067896;10219243;10224668;10397749;10496324;10499918;10514529;10559936;10579907;10724160;10746781;10781580;10781611;10861086;10878810;10986460;10995437;11157975;11231582;11237011;11265639;11276226;11278486;11329366;11340081;11425868;11489943;11513152;11553796;11556966;11711607;11747816;11749377;11804587;11807247;11829459;11854399;11857637;11858820;11861603;11955593;11955595;11955599;11972023;12040185;12055636;12061891;12105426;12117970;12189515;12213210;12213321;12235133;12417718;12438563;12446674;12483297;12588680;12660731;12743368;12756162;12869549;12915721;1314888;1372004;1379234;1396683;1402657;1430234;14586410;14676198;14719373;14722222;14970179;15034010;15040784;1508672;15136729;15143187;15155468;15161916;15187158;15229321;15294978;15304001;15322115;15340161;15388922;15452139;15530433;15534202;15536084;15541655;15580655;15592474;15607800;15657136;15778510;15781451;15800062;15809313;15851719;15864273;15879134;16014749;16091383;16129954;16237089;16262445;16339513;16380601;16467876;16497229;16546099;16551255;16641196;16678913;16702231;16737824;16754721;16818754;16880808;16893496;16904340;16921024;16928187;17045824;17057721;17125875;17188549;17202194;17237375;17308335;17337780;17590538;18023480;18031695;18037897;18055229;18070890;18083107;18209062;18234675;18249105;18322202;18362138;18391171;18591661;18593354;18818202;19149696;19159218;19317650;19359216;19592130;19741094;19955216;20028659;20049711;20130243;20304997;20363976;20730098;21037092;21241660;21419341;21800138;21841309;21877119;21965667;22396535;23061660;23675550;23695528;23929856;24305946;24417533;2474607;2529342;25345863;25561553;25703557;25716998;26284469;26300885;26992070;28566370;2911749;29557506;2974947;31848261;32350084;32387766;32983136;33239784;33392160;35251023;35580925;36010968;37352378;37421619;37958695;38424643;7510216;7512959;7514165;7516890;7517665;7521687;7522622;7530449;7530745;7531291;7542404;7615558;7617032;7657660;7673114;7690989;7718892;7796299;7848918;8064233;8156998;8176225;8178173;8226994;8228618;8327478;8340414;8483949;8530158;8541526;8550631;8611682;8631301;8657103;8809042;8862523;8986718;8995416;9000504;9042338;9050880;9111318;9143706;9162098;9285412;9314552;9314561;9600938;9700512;9705280;9730896;9799231;9843499;9857068;9881690;9883880;9885284;9973503", "class_list": "", "function": "A Non-Coding Fc Gamma Receptor Cis-Regulatory Variant within the 1q23 Gene Cluster Is Associated with Plasmodium falciparum Infection in Children Residing in Burkina Faso. Publication Status: Online-Only, [RefSeq, PubMed]; High affinity receptor for the Fc region of immunoglobulins gamma. Functions in both innate and adaptive immune responses. Mediates IgG effector functions on monocytes triggering antibody-dependent cellular cytotoxicity (ADCC) of virus-infected cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Neutrophil CD64 index as a new early predictive biomarker for infected pancreatic necrosis in acute pancreatitis. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic performance of neutrophil CD64 expression in patients with complicated intra-abdominal infections - a prospective study., [RefSeq, PubMed]; This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 10, "reported_phosphosites": 2, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 39, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "P12315;Q5QNW7;Q92495;Q92663", "ec_number_list": [], "go_molecular_function": "GO:0019864 IgG binding;GO:0019770 IgG receptor activity;GO:0019771 high-affinity IgG receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0030669 clathrin-coated endocytic vesicle membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0038094 Fc-gamma receptor signaling pathway;GO:0006911 phagocytosis, engulfment;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 30.8, "record_id": "P12314-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBR7-2", "uniprot_id": [ { "id": "TLC3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBR7", "type": "external" } ], "mass": 29383.0, "length": 257, "protein_name": "TLC domain-containing protein 3A", "gene_name": "TLCD3A", "organism": "Human", "refseq_name": "TLC domain-containing protein 3A isoform 4", "refseq_ac": [ { "id": "NP_001304937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304937", "type": "external" } ], "gene_names_uniprotkb": "TLCD3A; FAM57A", "gene_names_refseq": "CT120; FAM57A; TLCD3A", "protein_names_uniprotkb": "TLC domain-containing protein 3A; Protein CT120; Protein FAM57A", "protein_names_refseq": "TLC domain-containing protein 3A isoform 4; TLC domain-containing protein 3A; family with sequence similarity 57 member A; membrane protein expressed in epithelial-like lung adenocarcinoma; protein FAM57A", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:79850)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "12270127;16143812;20024628;23481700;28832583;29242379;29557506;31154438;31222486;31844290;31848261;32157095;34561969;36291175", "class_list": "", "function": "CT120B overexpression resulted in reduction of cell growth rate & inhibited tumorigenecity & anchorage-independent growth; findings suggest that the delayed G1/S phase transition might contribute to the inhibitory activities of CT120B on cell growth, [RefSeq, PubMed]; FAM57A (Family with Sequence Similarity 57 Member A) Is a Cell-Density-Regulated Protein and Promotes the Proliferation and Migration of Cervical Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular cloning and characterization of this novel membrane-associated gene involved in amino acid transport and glutathione metabolism, [RefSeq, PubMed]; The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; The researchers found evidence that CT120 may be a key factor in tumor progression and that down-regulation of CT120 may be an effective treatment for lung neoplasms., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7Q0;Q7Z464;Q96D97;Q9H6H3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0055088 lipid homeostasis", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8TBR7-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9W5-1", "uniprot_id": [ { "id": "DAAF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9W5", "type": "external" } ], "mass": 59410.0, "length": 541, "protein_name": "Dynein axonemal assembly factor 3", "gene_name": "DNAAF3", "organism": "Human", "refseq_name": "dynein axonemal assembly factor 3 isoform 1", "refseq_ac": [ { "id": "NP_001243643", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243643", "type": "external" } ], "gene_names_uniprotkb": "DNAAF3; C19orf51", "gene_names_refseq": "C19orf51; CILD2; DAB1; DNAAF3; PCD; PF22", "protein_names_uniprotkb": "Dynein axonemal assembly factor 3", "protein_names_refseq": "UPF0470 protein C19orf51; dynein axonemal assembly factor 3 isoform 1", "tax_id": 9606, "disease": "Kartagener syndrome (Disease Ontology:DOID:0050144); visceral heterotaxy (Disease Ontology:DOID:0050545); primary ciliary dyskinesia 2 (Disease Ontology:DOID:0110626)", "pathway": " (hsa:352909)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;22387996;29323929;29632711;31186518;32387766;32938616;33968037;35051231", "class_list": "", "function": "As the first report on DNAAF3 mutations in PCD patients in China, our study not only expands the spectrum of DNAAF3 mutations but also further complements the detailed phenotype characteristics of these patients., [RefSeq, PubMed]; Genetic variants within DNAH6, DNAH14, and DNAAF3 are associated with variation in lung function among persons with cystic fibrosis., [RefSeq, PubMed]; Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia., [UniProtKB, PubMed]; Study identified loss-of-function mutations in the human DNAAF3 gene in individuals from families with situs inversus and defects in the assembly of inner and outer dynein arm Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MUY0;E3W9A1;E9PAX5;Q6P4F6;Q8N9W0;Q96AR2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0120293 dynein axonemal particle", "go_biological_process": "GO:0044458 motile cilium assembly;GO:0070286 axonemal dynein complex assembly", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N9W5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16850-1", "uniprot_id": [ { "id": "CP51A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16850", "type": "external" } ], "mass": 57278.0, "length": 509, "protein_name": "Lanosterol 14-alpha demethylase", "gene_name": "CYP51A1", "organism": "Human", "refseq_name": "lanosterol 14-alpha demethylase isoform 1", "refseq_ac": [ { "id": "NP_000777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000777", "type": "external" } ], "gene_names_uniprotkb": "CYP51A1; CYP51", "gene_names_refseq": "CP51; CYP51A1; CYP51; CYPL1; LDM; P450-14DM; P450L1", "protein_names_uniprotkb": "Lanosterol 14-alpha demethylase; 1.14.14.154; CYP51A1; CYPLI; Cytochrome P450 51A1; Cytochrome P450-14DM; Cytochrome P45014DM; Cytochrome P450LI; LDM; Sterol 14-alpha demethylase", "protein_names_refseq": "CYPLI; cytochrome P450 51A1; cytochrome P450, 51 (lanosterol 14-alpha-demethylase); cytochrome P450, family 51, subfamily A, polypeptide 1; cytochrome P450-14DM; cytochrome P45014DM; cytochrome P450LI; lanosterol 14-alpha demethylase isoform 1; lanosterol 14-alpha demethylase; sterol 14-alpha demethylase", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); developmental and epileptic encephalopathy 45 (Disease Ontology:DOID:0080428); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); autistic disorder (Disease Ontology:DOID:12849); hepatic encephalopathy (Disease Ontology:DOID:13413); depressive disorder (Disease Ontology:DOID:1596); diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:1595); (R-HSA-211976); (R-HSA-2426168); (R-HSA-6807047); (R-HSA-6807062); (R-HSA-9619665)", "pathway_count": 6, "publication_count": 211, "publication_id_list": "10203854;10220111;10369263;10391218;10391219;10400691;10588945;10727776;10757804;10759542;10856243;11115854;11133365;11157804;11237011;11356866;11394999;11414710;11430795;11430802;11466336;11519011;11555828;11734543;11782409;12056842;12083769;12145339;12177166;12189593;12198163;12618959;12764144;12782656;12799134;12812989;12829805;1377680;14404284;14506130;14512514;14522948;14664827;15042513;15150276;15189448;15356632;15610069;15695336;15836632;15907797;16136673;16311519;16319321;16373334;16784888;16923174;1704008;1708392;17325040;1741400;17449569;17699610;17925399;17959798;18559965;18634568;18654640;18682402;18726356;18803322;19143832;19156870;19321787;19661213;1968462;19745155;1975954;19922439;20138239;20149798;20213556;20450493;20625412;20719759;20832498;20937905;21044070;21285510;21326363;21411665;21423190;21423191;21613327;21636783;21653862;22053691;22180461;22333914;22492709;2256920;22634312;22764250;22772592;22814607;23050906;23481700;23646949;23695165;23747866;23874858;24191038;24227709;24646194;24675079;25418920;25645385;25892735;2592361;25974668;26375851;26423937;26441514;26728094;26758079;27220739;27288457;27600516;27859941;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28852375;29242379;29331515;29393594;29508533;29632046;29632711;29748249;29769354;29786170;29789417;3024157;30315122;3038528;30429286;30524438;30779550;30833945;31222486;31530632;31844290;31848261;31904814;31937595;31998317;32161166;33031537;34185709;3487786;36215666;36284347;36413274;36581221;36870163;37209823;37938771;38272204;40914422;7567999;7592729;7732023;7909540;7925941;7935840;8020941;8138712;8349731;8619637;8626466;8626488;8627307;8647822;8662541;8663358;8663599;8797093;8798690;8809088;8842374;8975714;8976377;9099716;9418958;9465114;9482253;9536209;9559662;9578606;9604010;9634482;9634533;9705348;9748295;9858769", "class_list": "", "function": "CYP51-mediated cholesterol biosynthesis is required for the proliferation of CD4[+] T cells in Sjogren's syndrome., [RefSeq, PubMed]; Concerning P450 Evolution: Structural Analyses Support Bacterial Origin of Sterol 14alpha-Demethylases., [RefSeq, PubMed]; Processive kinetics in the three-step lanosterol 14alpha-demethylation reaction catalyzed by human cytochrome P450 51A1., [RefSeq, PubMed]; Revealing substrate-induced structural changes in active site of human CYP51 in the presence of its physiological substrates., [RefSeq, PubMed]; Sterol 14alpha-demethylase that plays a critical role in the cholesterol biosynthesis pathway, being cholesterol the major sterol component in mammalian membranes as well as a precursor for bile acid and steroid hormone synthesis (PubMed:20149798, PubMed:8619637, PubMed:9559662). Cytochrome P450 monooxygenase that catalyzes the three-step oxidative removal of the 14alpha-methyl group (C-32) of sterols such as lanosterol (lanosta-8,24-dien-3beta-ol) and 24,25-dihydrolanosterol (DHL) in the form of formate, and converts the sterols to 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol and 4,4-dimethyl-8,14-cholestadien-3beta-ol, respectively, which are intermediates of cholesterol biosynthesis (PubMed:20149798, PubMed:8619637, PubMed:9559662). Can also demethylate substrates not intrinsic to mammals, such as eburicol (24-methylene-24,25-dihydrolanosterol), but at a lower rate than DHL (PubMed:9559662)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The effect of membrane composition on the interaction between human CYP51 and its flavonoid inhibitor - luteolin 7,3'-disulfate., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DFL7;A4D1F8;B2RAI4;B4DJ55;O00770;O00772;Q16784;Q8N1A8;Q99868", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "1.14.14.154", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.154", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0016491 oxidoreductase activity;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;GO:0008398 sterol 14-demethylase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0006695 cholesterol biosynthetic process;GO:0016125 sterol metabolic process;GO:0006694 steroid biosynthetic process;GO:0042177 negative regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q16850-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53R41-1", "uniprot_id": [ { "id": "FAKD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53R41", "type": "external" } ], "mass": 97411.0, "length": 847, "protein_name": "FAST kinase domain-containing protein 1, mitochondrial", "gene_name": "FASTKD1", "organism": "Human", "refseq_name": "FAST kinase domain-containing protein 1, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001268405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268405", "type": "external" } ], "gene_names_uniprotkb": "FASTKD1; KIAA1800", "gene_names_refseq": "FASTKD1", "protein_names_uniprotkb": "FAST kinase domain-containing protein 1, mitochondrial", "protein_names_refseq": "FAST kinase domain-containing protein 1, mitochondrial isoform 2; FAST kinase domain-containing protein 1, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:79675)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;19608861;19615748;20869947;22544926;23481700;24715725;25418920;26375851;26811146;26992070;27600516;27862975;28218747;28228285;28238724;28335001;28514659;28832583;28904123;29036396;29242379;29393594;29632046;30379171;30410026;31217245;31844290;32157095;32161166;32265295;32357974;32387766;32897882;32938616;33141586;33298915;33912179;33968037;34357683;34509645;35051231", "class_list": "", "function": "Despite the fact that proteins of the FASTK family FASTKD1-5 share the same domains, they exhibit various-sometimes opposing-functions in almost all steps of mitochondrial RNA metabolism. Review article, [RefSeq, PubMed]; Disruption of FASTKD1 increases ND3 mRNA level. Disrupting FASTKD1 and FASTKD4 decreases ND3 mRNA like depleting FASTKD4 alone. Each RAP domain of FASTK proteins contains a nuclease fold with a conserved aspartate residue at the putative active site. The RAP domain is essential for the function of the FASTK proteins, while the region upstream determines RNA targeting and protein localization., [RefSeq, PubMed]; Involved in the down-regulation of mitochondrial MT-ND3 mRNA levels which leads to decreased respiratory complex I abundance and activity., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N583;Q8TEA9;Q96JM5;Q96N71;Q9H6T4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0035770 ribonucleoprotein granule", "go_biological_process": "GO:0000963 mitochondrial RNA processing;GO:0000959 mitochondrial RNA metabolic process;GO:0044528 regulation of mitochondrial mRNA stability", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q53R41-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58062-1", "uniprot_id": [ { "id": "ISK7_HUMAN", "url": "https://www.uniprot.org/uniprot/P58062", "type": "external" } ], "mass": 9232.0, "length": 85, "protein_name": "Serine protease inhibitor Kazal-type 7", "gene_name": "SPINK7", "organism": "Human", "refseq_name": "serine protease inhibitor Kazal-type 7 precursor", "refseq_ac": [ { "id": "NP_115955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115955", "type": "external" } ], "gene_names_uniprotkb": "SPINK7; ECG2; PRO1474", "gene_names_refseq": "ECG2; ECRG2; SPINK7", "protein_names_uniprotkb": "Serine protease inhibitor Kazal-type 7; ECRG-2; Esophagus cancer-related gene 2 protein", "protein_names_refseq": "ECRG-2; esophagus cancer-related gene 2 protein; esophagus cancer-related gene-2; serine peptidase inhibitor, Kazal type 7 (putative); serine protease inhibitor Kazal-type 7 precursor; serine protease inhibitor Kazal-type 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:84651)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12646258;12970870;12975309;14639608;17352218;22528291;28348485;28852849;29242379;29331515;29875205;32681017;33767253", "class_list": "", "function": "Data suggest that the physical interaction of esophageal cancer related gene 2 (ECRG2) and metallothionein 2A (MT2A) may play an important role in the carcinogenesis of esophageal cancer., [RefSeq, PubMed]; ECRG2 in combination with cisplatin (DDP) can inhibit viability and induce apoptosis in esophageal cancer DDP-resistant cells, possibly via upregulation of p53 expression and downregulation of PCNA expression., [RefSeq, PubMed]; ECRG2, a novel transcriptional target of p53, modulates cancer cell sensitivity to DNA damage. GeneRIF: ECRG2/SPINK7 is a novel pro-apoptotic target of p53, which is induced by DNA damage in a p53-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; N cultured keratinocytes, SPINK7 mRNA expression was up-regulated by IL-17A together with IFNgamma, [RefSeq, PubMed]; Observational study of genotype prevalence and gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potential interaction partner for ECRG2 might be involved in regulation of cell proliferation and apoptosis and in various physiological processes., [RefSeq, PubMed]; Probable serine protease inhibitor., [UniProtKB]; SPINK7 (serine peptidase inhibitor, kazal type 7), is part of the differentiation program of human esophageal epithelium., [RefSeq, PubMed]; SPINK7 expression changes accompanied by HER2, P53 and RB1 can be relevant in predicting oral squamous cell carcinoma at a molecular level. Publication Status: Online-Only, [RefSeq, PubMed]; Short tandem repeat polymorphism in a novel esophageal cancer-related gene (ECRG2) implicates susceptibility to esophageal cancer GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q32LY0", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006954 inflammatory response;GO:0045861 negative regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P58062-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZN8-1", "uniprot_id": [ { "id": "ADSSP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZN8", "type": "external" } ], "mass": 19291.0, "length": 174, "protein_name": "Adipose-secreted signaling protein", "gene_name": "ADISSP", "organism": "Human", "refseq_name": "adipose-secreted signaling protein isoform 1", "refseq_ac": [ { "id": "NP_001034229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034229", "type": "external" } ], "gene_names_uniprotkb": "ADISSP; C20orf27", "gene_names_refseq": "ADISSP; C20orf27", "protein_names_uniprotkb": "Adipose-secreted signaling protein", "protein_names_refseq": "UPF0687 protein C20orf27; adipose-secreted signaling protein isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54976)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;12665801;22424782;23481700;25576301;26992070;27920218;28832583;28834231;29242379;29493099;29557506;29786170;31154438;31844290;32350084;32387766;32897882;32938616;33141586;33298915;33968037;33981976;34405274;34509645;35051231;35580925;38665916", "class_list": "", "function": "Adipocyte-secreted protein (adipokine) that acts as a key regulator for white adipose tissue (WAT) thermogenesis and glucose homeostasis at least in part through activation of protein kinase A (PKA)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K4J0;D3DVX8;Q5JX81;Q9NWX3", "ec_number_list": [], "go_molecular_function": "GO:0008157 protein phosphatase 1 binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0042593 glucose homeostasis;GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway;GO:1990845 adaptive thermogenesis", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9GZN8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57679-1", "uniprot_id": [ { "id": "EVC_HUMAN", "url": "https://www.uniprot.org/uniprot/P57679", "type": "external" } ], "mass": 111990.0, "length": 992, "protein_name": "EvC complex member EVC", "gene_name": "EVC", "organism": "Human", "refseq_name": "evC complex member EVC isoform 3", "refseq_ac": [ { "id": "NP_001293021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293021", "type": "external" } ], "gene_names_uniprotkb": "EVC", "gene_names_refseq": "DWF-1; EVC1; EVCL; EVC", "protein_names_uniprotkb": "EvC complex member EVC; DWF-1; Ellis-van Creveld syndrome protein", "protein_names_refseq": "Ellis van Creveld protein; Ellis van Creveld syndrome; ellis-van Creveld syndrome protein; evC complex member EVC isoform 3; evC complex member EVC", "tax_id": 9606, "disease": "Weyers acrofacial dysostosis (Disease Ontology:DOID:0111571); Ellis-Van Creveld syndrome (Disease Ontology:DOID:12714); ventricular septal defect (Disease Ontology:DOID:1657)", "pathway": " (hsa:2121); (R-HSA-5632684); (R-HSA-5635838)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10433824;10564661;10700184;10966113;11027307;11237011;11960000;12050670;12068298;12123571;12138125;12426310;14528312;14611647;14614827;14636583;15115751;15198976;15300262;15618519;15691767;16061793;16136078;16155214;16421275;16459297;16459298;16611981;16630821;16651542;16740475;16908539;16980583;17115028;17442700;17641202;17960137;18455992;18497258;18815277;18827223;18832070;18947413;19196978;19218434;19305393;19365551;19368795;19371734;19533801;19549984;19592253;19622347;19666503;19684112;19744229;19818708;19852954;19878745;19948480;19955409;19996169;20014402;20016067;20154143;20360384;20460306;20487519;20512148;20643644;20818436;20844016;20889716;20956384;21356043;21659505;21695114;21801010;21878643;22007132;22277298;22391301;22981989;22982193;22986504;23026747;23332756;23719536;23725801;23877428;23955340;24072710;24302888;24582806;24845016;24854174;24925320;25576301;25645385;26375851;29229899;29242379;29257216;29321360;29393594;29557506;30429286;31844290;31848261;32157095;32350084;32357974;32938616;33141586;33968037;34037314;35051231;36284347;9601642;9874371", "class_list": "", "function": "An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation., [RefSeq, PubMed]; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development., [UniProtKB, UniProtKB]; Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. In all cases, molecular analysis by Sanger sequencing identified the same homozygous mutation in exon 12 of EVC, c.1678G>T, which leads to a premature stop codon. Publication Status: Online-Only, [RefSeq, PubMed]; The molecular mechanism underlying the development of ventricular septal defect induced by the EVC c.343C>G mutation may be due to a reduction in the anti-apoptotic and proliferative abilities of cardiomyocytes via downregulation of Hh pathway activity., [RefSeq, PubMed]; The whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene., [RefSeq, PubMed]; This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0036064 ciliary basal body;GO:0060170 ciliary membrane;GO:0098797 plasma membrane protein complex", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0001501 skeletal system development;GO:0007517 muscle organ development;GO:0007224 smoothened signaling pathway;GO:0051216 cartilage development", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "P57679-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6WN34-1", "uniprot_id": [ { "id": "CRDL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6WN34", "type": "external" } ], "mass": 47495.0, "length": 429, "protein_name": "Chordin-like protein 2", "gene_name": "CHRDL2", "organism": "Human", "refseq_name": "chordin-like protein 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001265402", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265402", "type": "external" } ], "gene_names_uniprotkb": "CHRDL2; BNF1; CHL2; PRO1557", "gene_names_refseq": "BNF1; CHL2; CHRDL2", "protein_names_uniprotkb": "Chordin-like protein 2; BNF-1; Breast tumor novel factor 1; Chordin-related protein 2", "protein_names_refseq": "breast tumor novel factor 1; chordin-like protein 2 isoform 2 precursor; chordin-like protein 2; chordin-related protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25884)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1038/emboj.2013.79;11237011;12853144;12975309;14660436;15094188;15340161;18780401;19453261;23584533;26091039;30459171;32125861;32938616;33245175;36206931", "class_list": "", "function": "CHL2 expression is restricted to chondrocytes of various developing joint cartilage surfaces and connective tissues in reproductive organs, [RefSeq, PubMed]; CHRDL2 promotes cell proliferation by activating the YAP/TAZ signaling pathway in gastric cancer., [RefSeq, PubMed]; CHRDL2 promotes osteosarcoma cell proliferation and metastasis through the BMP-9/PI3K/AKT pathway., [RefSeq, PubMed]; Differential expression of CHL2 variants was observed during myoblast and osteoblast differentiation, implying a role for this gene in these physiological processes., [RefSeq, PubMed]; May inhibit BMPs activity by blocking their interaction with their receptors. Has a negative regulator effect on the cartilage formation/regeneration from immature mesenchymal cells, by preventing or reducing the rate of matrix accumulation (By similarity). Implicated in tumor angiogenesis. May play a role during myoblast and osteoblast differentiation, and maturation., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays demonstrate a direct interaction between the encoded protein and human activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A5PKU9;Q6WN30;Q6WN31;Q6WN32;Q7Z5J3", "ec_number_list": [], "go_molecular_function": "GO:0036122 BMP binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005576 extracellular region", "go_biological_process": "GO:0030154 cell differentiation;GO:0030514 negative regulation of BMP signaling pathway;GO:0001503 ossification;GO:0051216 cartilage development;GO:0048731 system development", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q6WN34-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95466-1", "uniprot_id": [ { "id": "FMNL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95466", "type": "external" } ], "mass": 121854.0, "length": 1100, "protein_name": "Formin-like protein 1", "gene_name": "FMNL1", "organism": "Human", "refseq_name": "formin-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001398057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001398057", "type": "external" } ], "gene_names_uniprotkb": "FMNL1; C17orf1B; C17orf1; FMNL; FRL1", "gene_names_refseq": "C17orf1B; C17orf1; FHOD4; FMNL1; FMNL; KW-13", "protein_names_uniprotkb": "Formin-like protein 1; CLL-associated antigen KW-13; Leukocyte formin", "protein_names_refseq": "CLL-associated antigen KW-13; formin-like protein 1 isoform 2; formin-like protein 1; leukocyte formin", "tax_id": 9606, "disease": "", "pathway": " (hsa:752); (R-HSA-5663220); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 4, "publication_count": 369, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10600384;10678165;10699171;10699464;10724160;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12429848;12432077;12464619;12531887;12546821;12547822;12577064;12650940;12665586;12732141;12773384;12805219;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15006353;15023524;15033976;15064355;15085137;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15507212;15579468;15601624;15611138;15728722;15850391;15858067;15864301;15866170;15897194;15944396;16002401;16112081;16116428;16184169;16217026;16243036;16292343;16439214;16473593;16492808;16507994;16519628;16622419;16622420;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16943183;16968698;17030981;17064668;17077126;17081983;17129783;17145773;17196961;17198702;17214551;17244649;1737036;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18001770;18006505;18045877;18056264;18097444;18212344;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18669648;18786931;18835169;18838382;18923426;18929667;19269969;19350017;19367720;19494238;19605563;19651622;19673492;19690332;19713215;19815554;19934221;20030946;20058876;20068231;20101212;20166139;20400958;20460433;20591975;20679435;20810653;21148482;21397845;21454492;21542010;21565175;21576392;21613211;21685891;21730051;21834987;21865595;21868368;21989057;22004470;22094460;22096251;22275430;22298643;22407364;22461490;22475431;22571869;22608513;22734669;22790947;22970203;23186163;23200924;23209303;23222643;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23801653;23940355;24086303;24259668;24275569;24335996;24352656;24584464;24715725;24859002;24914801;24933155;24960694;24996924;25024229;25211221;25255805;25428919;25576301;25704760;25721503;25795300;25862245;25892735;25963737;26129894;26154972;26299518;26529257;26598554;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27655845;27713499;27798618;27806292;27846572;28028151;28063628;28114311;28196833;28825699;28832583;28834231;28855257;28860633;28904123;29089502;29242379;29358323;29382922;29393594;29493099;29508533;29557506;29632046;29769354;30061681;30379171;30429286;30853411;31001854;31154438;31217245;31387165;31844290;31848261;31861134;31871319;31998317;32157095;32203420;32350084;32357974;32387766;32488085;32502341;32938616;32939232;32983136;33141586;33298915;33633747;33912179;33936100;33968037;34171305;34357683;34509645;35051231;35154160;35580925;36284347;37217939;37454877;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9649308;9659915;9670022;9792683;9799091;9822598;9829970;9843499;9846874;9988689", "class_list": "", "function": "Formin-like 1 protein (FMNL1) is a promising therapeutic target for glioblastoma multiforme (GBM) progression. Publication Status: Online-Only, [RefSeq, PubMed]; Formin-related protein 1 facilitates proliferation and aggressive phenotype of clear cell renal cell carcinoma through MAPK/MMP2 pathway., [RefSeq, PubMed]; MiR-143 inhibits proliferation and metastasis of nasopharyngeal carcinoma cells via targeting FMNL1 based on clinical and radiologic findings., [RefSeq, PubMed]; Plays a role in actin cytoskeleton dynamics and regulation of cell shape (PubMed:21834987)., [UniProtKB, PubMed]; Suppressing FMNL1 expression could inhibit bone metastasis in NSCLC through blocking TGF-beta1 signaling., [RefSeq, PubMed]; This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D2DGW2;Q6DKG5;Q6IBP3;Q86UH1;Q8N671;Q8TDH1;Q96H10", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0031267 small GTPase binding;GO:0032794 GTPase activating protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016477 cell migration;GO:0008360 regulation of cell shape;GO:0030866 cortical actin cytoskeleton organization;GO:0051014 actin filament severing;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 37.2, "record_id": "O95466-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32NC0-1", "uniprot_id": [ { "id": "RMP24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32NC0", "type": "external" } ], "mass": 24827.0, "length": 220, "protein_name": "Ribonuclease MRP protein subunit p24", "gene_name": "RMP24", "organism": "Human", "refseq_name": "ribonuclease MRP protein subunit p24 isoform b", "refseq_ac": [ { "id": "NP_001188403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188403", "type": "external" } ], "gene_names_uniprotkb": "RMP24; C18orf21; PNAS-124; PNAS-131; XTP13", "gene_names_refseq": "C18orf21; HsT3108; PNAS-124; PNAS-131; RMP24; XTP13", "protein_names_uniprotkb": "Ribonuclease MRP protein subunit p24; HBV X-transactivated gene 13 protein; HBV XAg-transactivated protein 13; Ribonuclease MRP subunit p24; UPF0711 protein C18orf21", "protein_names_refseq": "HBV X-transactivated gene 13 protein; HBV X-transactivated protein 13; HBV XAg-transactivated protein 13; UPF0711 protein C18orf21; ribonuclease MRP protein subunit p24 isoform b; ribonuclease MRP protein subunit p24", "tax_id": 9606, "disease": "", "pathway": " (hsa:83608)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15096576;16964243;17924679;18669648;18691976;19007248;19691289;20068231;23481700;24714562;25576301;26154972;26728094;26992070;28115465;28832583;28904123;29557506;31217245;31844290;32157095;32387766;32897882;32938616;32983136;34171305;35051231;35580925;36010968;40413743", "class_list": "", "function": "Specific component of the MRP ribonucleoprotein endoribonuclease, Rnase/Mrp complex, a ribonucleoprotein complex involved in pre-rRNA processing., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6GW03;Q9BXV6;Q9BXW2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000172 ribonuclease MRP complex", "go_biological_process": "GO:0006396 RNA processing;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q32NC0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VI1-1", "uniprot_id": [ { "id": "EX3L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VI1", "type": "external" } ], "mass": 81678.0, "length": 746, "protein_name": "Exocyst complex component 3-like protein", "gene_name": "EXOC3L1", "organism": "Human", "refseq_name": "exocyst complex component 3-like protein", "refseq_ac": [ { "id": "NP_848611", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848611", "type": "external" } ], "gene_names_uniprotkb": "EXOC3L1; EXOC3L", "gene_names_refseq": "EXOC3L1; EXOC3L", "protein_names_uniprotkb": "Exocyst complex component 3-like protein; Protein Jiangli", "protein_names_refseq": "exocyst complex component 3-like protein; protein Jiangli", "tax_id": 9606, "disease": "", "pathway": " (hsa:283849)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;16959974;26199122;27862975;29242379;29557506;30429286;30524438;30779550;31154438;31848261;32157095;32387766;35051231;35251023;35580925;36852560;37938771", "class_list": "", "function": "As part of the exocyst, may play a role in regulated exocytosis of insulin granules., [UniProtKB]; EXOC3L1 is strongly expressed in vascular endothelium and forms part of the exocyst complex, a key facilitator of the trafficking of lipid receptors, [RefSeq, PubMed]; EXOC3L1: A Novel Prognostic Biomarker Correlated with Immune Infiltration in Esophageal Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7I9;Q8NAD2;Q8TEN2", "ec_number_list": [], "go_molecular_function": "GO:0000149 SNARE binding", "go_cellular_component": "GO:0030141 secretory granule;GO:0030133 transport vesicle;GO:0000145 exocyst", "go_biological_process": "GO:0051601 exocyst localization;GO:0006887 exocytosis;GO:0030072 peptide hormone secretion", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q86VI1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4L180-1", "uniprot_id": [ { "id": "FIL1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4L180", "type": "external" } ], "mass": 130382.0, "length": 1135, "protein_name": "Filamin A-interacting protein 1-like", "gene_name": "FILIP1L", "organism": "Human", "refseq_name": "filamin A-interacting protein 1-like isoform 3", "refseq_ac": [ { "id": "NP_001035924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035924", "type": "external" } ], "gene_names_uniprotkb": "FILIP1L; COL4A3BPIP; DOC1; GIP90", "gene_names_refseq": "DOC-1; DOC1; FILIP1L; GIP130; GIP90", "protein_names_uniprotkb": "Filamin A-interacting protein 1-like; 130 kDa GPBP-interacting protein; 90 kDa GPBP-interacting protein; DOC-1; Protein down-regulated in ovarian cancer 1", "protein_names_refseq": "130 kDa GPBP-interacting protein; 90 kDa GPBP-interacting protein; filamin A-interacting protein 1-like isoform 3; protein down-regulated in ovarian cancer 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11259)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15935955;18794120;19270026;19413330;20068231;20166139;24275569;27600516;27776341;27869121;28657654;28832583;29242379;29393594;29557506;29786170;30379171;31154438;31530632;31844290;32387766;32983136;33592498;33968037;34019948;34417201;34509645;34666037;35051231;35254053;35580925;36215666;36284347;37955081;38665916;39531497;41350704;8314147", "class_list": "", "function": "Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor-associated vasculature., [UniProtKB, PubMed]; DOC1 might play a role in mediating some of the effects of EMAP-II on endothelial cells, [RefSeq, PubMed]; FILIP1L Loss Is a Driver of Aggressive Mucinous Colorectal Adenocarcinoma and Mediates Cytokinesis Defects through PFDN1., [RefSeq, PubMed]; FILIP1L-mediated cell apoptosis, epithelial-mesenchymal transition and extracellular matrix synthesis aggravate posterior capsular opacification., [RefSeq, PubMed]; Long-chain noncoding RNA LINC01569 upregulates filamin A-interacting protein 1-like to prevent metastasis of triple-negative breast cancer via sponging miR-300., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2009 Aug 1;18(15):2928. Maharaj, Aleksandra Gentry [corrected to Gentry-Maharaj, Aleksandra]], [RefSeq, PubMed]; Studies have shown that FILIP1L expression is related with inhibition of metastases and chemoresistance of ovarian neoplasm, which is associated with downregulation of EMT through beta-catenin degradation. FILIP1L expression correlates with significantly improved overall survival., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2CNV7;B2CNV8;Q13597;Q2YDY5;Q6KFX5;Q6KFX6;Q6KFX7;Q8IUM3;Q8N6Z0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:1903119 protein localization to actin cytoskeleton", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q4L180-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BN6-1", "uniprot_id": [ { "id": "F149B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BN6", "type": "external" } ], "mass": 64618.0, "length": 582, "protein_name": "Primary cilium assembly protein FAM149B1", "gene_name": "FAM149B1", "organism": "Human", "refseq_name": "primary cilium assembly protein FAM149B1", "refseq_ac": [ { "id": "NP_775483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775483", "type": "external" } ], "gene_names_uniprotkb": "FAM149B1; KIAA0974", "gene_names_refseq": "FAM149B1; JBTS36; KIAA0974", "protein_names_uniprotkb": "Primary cilium assembly protein FAM149B1", "protein_names_refseq": "primary cilium assembly protein FAM149B1; protein FAM149B1", "tax_id": 9606, "disease": "Joubert syndrome (Disease Ontology:DOID:0050777); Joubert syndrome 36 (MONDO:MONDO:0032902)", "pathway": " (hsa:317662)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;23481700;25892735;30905400;31844290;32157095;32357974;32387766;32938616;34509645;34828254;35051231;35609210", "class_list": "", "function": "BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1., [RefSeq, PubMed]; Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family. Publication Status: Online-Only, [RefSeq, PubMed]; FAM149B1 is required for normal ciliary biology and its deficiency results in a range of ciliopathy phenotypes in humans along the spectrum of Joubert syndrome, [RefSeq, PubMed]; Involved in the localization of proteins to the cilium and cilium assembly. Indirectly regulates the signaling functions of the cilium, being required for normal SHH/smoothened signaling and proper development., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9Y2I0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "GO:0060271 cilium assembly;GO:0061512 protein localization to cilium", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96BN6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13117-1", "uniprot_id": [ { "id": "DAZ2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13117", "type": "external" } ], "mass": 63111.0, "length": 558, "protein_name": "Deleted in azoospermia protein 2", "gene_name": "DAZ2", "organism": "Human", "refseq_name": "deleted in azoospermia protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001005785", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005785", "type": "external" } ], "gene_names_uniprotkb": "DAZ2", "gene_names_refseq": "DAZ2; pDP1678", "protein_names_uniprotkb": "Deleted in azoospermia protein 2", "protein_names_refseq": "deleted in azoospermia protein 2 isoform 2; deleted in azoospermia protein 2", "tax_id": 9606, "disease": "Y-linked spermatogenic failure 2 (Disease Ontology:DOID:0070187)", "pathway": " (hsa:57055)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10857750;10903443;10936047;11058556;11095434;11237011;11390979;11870237;12511597;12752250;12801575;26232607;27457284;31429579;34653405;7670487", "class_list": "", "function": "Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes., [RefSeq, PubMed]; RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation., [UniProtKB]; Studies indicate that partial RNA-binding proteins DAZ1/2 deletion was associated wih male infertility, but partial RNA-binding proteins DAZ3/4 deletion was not associated with male infertility. Review article, [RefSeq, PubMed]; Study reported a new type of AZFc deletion (gr/gr-DAZ2-DAZ4-CDY1b) and hypothesis that this new deletion is the result of 2 successive events favored by the unstable structure of AZFc region; also demonstrated that this deletion constitutes a relative high-risk factor for male infertility in Tunisian population, [RefSeq, PubMed]; This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2KHN6;Q96P41;Q9NR91", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008494 translation activator activity;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0007338 single fertilization;GO:0070935 3'-UTR-mediated mRNA stabilization;GO:0045948 positive regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q13117-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14061-1", "uniprot_id": [ { "id": "COX17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14061", "type": "external" } ], "mass": 6915.0, "length": 63, "protein_name": "Cytochrome c oxidase copper chaperone", "gene_name": "COX17", "organism": "Human", "refseq_name": "cytochrome c oxidase copper chaperone isoform b", "refseq_ac": [ { "id": "NP_005685", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005685", "type": "external" } ], "gene_names_uniprotkb": "COX17", "gene_names_refseq": "COX17", "protein_names_uniprotkb": "Cytochrome c oxidase copper chaperone", "protein_names_refseq": "COX17 cytochrome c oxidase assembly homolog; COX17, cytochrome c oxidase copper chaperone; cytochrome c oxidase 17 copper chaperone; cytochrome c oxidase assembly homolog 17; cytochrome c oxidase copper chaperone isoform b; human homolog of yeast mitochondrial copper recruitment", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); alcohol use disorder (Disease Ontology:DOID:1574); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:10063); (R-HSA-1268020); (R-HSA-9864848)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "10982038;11237011;14726512;15229189;15254020;15644312;15683237;16185709;16849325;17510655;18093982;18174896;18678864;19393246;19409522;19453276;19503089;19767391;19962426;20068231;20593814;21059946;21750375;21816817;22223895;22342701;22356826;23041349;23125284;23186163;23260140;23345593;23597483;23746447;23811401;24403053;25315652;25926683;25959673;26154972;26321642;26697887;27693358;28082314;28199844;28330871;28832583;29154948;29208936;29242379;31536960;31903891;32317297;32375044;33912179;34969438;35750769;9050918;9843204", "class_list": "", "function": "Characterize the disorder-to-order transition of a Mia40 substrate, the human small copper chaperone Cox17 Publication Status: Online-Only, [RefSeq, PubMed]; Copper metallochaperone involved in the assembly of cytochrome c oxidase (respiratory chain complex IV, CIV). Binds two copper ions and delivers them to metallochaperones SCO1 and SCO2, which co-chaperone the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2), and to metallochaperone COX11 which relays the copper to the Cu(B) site on the cytochrome c oxidase subunit I (MT-CO1/COX1)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5D2;D3DN84;Q3MHD6", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0005507 copper ion binding;GO:1903136 cuprous ion binding;GO:0016531 copper chaperone activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q14061-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB55-1", "uniprot_id": [ { "id": "CP343_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB55", "type": "external" } ], "mass": 57670.0, "length": 503, "protein_name": "Cytochrome P450 3A43", "gene_name": "CYP3A43", "organism": "Human", "refseq_name": "cytochrome P450 3A43 isoform 4", "refseq_ac": [ { "id": "NP_001265850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265850", "type": "external" } ], "gene_names_uniprotkb": "CYP3A43", "gene_names_refseq": "CYP3A43", "protein_names_uniprotkb": "Cytochrome P450 3A43; 1.14.14.1", "protein_names_refseq": "cytochrome P450 3A43 isoform 4; cytochrome P450 3A43; cytochrome P450, family 3, subfamily A, polypeptide 43; cytochrome P450, subfamily IIIA, polypeptide 43", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); cholestasis (Disease Ontology:DOID:13580); depressive disorder (Disease Ontology:DOID:1596); anxiety disorder (Disease Ontology:DOID:2030); liver cirrhosis (Disease Ontology:DOID:5082); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:64816); (R-HSA-211958); (R-HSA-211981)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10383923;11160876;11237011;11243885;11266076;11726664;12464245;12629583;12711469;14660610;14695544;14759258;15196988;15365656;15454734;15548719;15665333;16359177;16677611;18065749;2025243;24715725;25576301;26585945;28673024;29557506;32301865;32387766;34509645;35051231;36613552;37217939;6220203;7217086;7903454;8647857;8975785;9644715;9842986", "class_list": "", "function": "Cis-acting regulatory elements regulating CYP3A4 transcription in human liver., [RefSeq, PubMed]; Effects of CYP3A43 Expression on Cell Proliferation and Migration of Lung Adenocarcinoma and Its Clinical Significance. Publication Status: Online-Only, [RefSeq, PubMed]; Exhibits low testosterone 6-beta-hydroxylase activity in vitro. The physiological substrate of this enzyme is unknown., [UniProtKB, PubMed]; Mutations in CYP3A43 gene is associated with prostate cancer., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]; We investigated the association between genetic polymorphisms in VDR, cytochrome P450 (CYP2R1, CYP24A1, and the CYP3A family) with plasma concentrations of vitamin D metabolites (25-hydroxyvitamin D3 (25(OH)D3) and proportion 24,25-dihydroxyvitamin D3 (24,25(OH)2D3)) among individuals of sub-Saharan African and European ancestry. Only CYP3A43 and VDR polymorphisms were associated with proportion 24,25(OH)2D., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q495Y1;Q75MK2;Q75MK3;Q9HB52;Q9HB53;Q9HB54;Q9HB57", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.14", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.14", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "1.14.14.130", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.130", "type": "external" }, { "id": "5.3.99.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.5", "type": "external" }, { "id": "1.14.14.25", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.25", "type": "external" } ], "go_molecular_function": "GO:0101020 estrogen 16-alpha-hydroxylase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0004497 monooxygenase activity;GO:0050649 testosterone 6-beta-hydroxylase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0070989 oxidative demethylation;GO:0008202 steroid metabolic process;GO:1903604 cytochrome metabolic process;GO:0002933 lipid hydroxylation;GO:0008210 estrogen metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9HB55-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58107-1", "uniprot_id": [ { "id": "EPIPL_HUMAN", "url": "https://www.uniprot.org/uniprot/P58107", "type": "external" } ], "mass": 555658.0, "length": 5088, "protein_name": "Epiplakin", "gene_name": "EPPK1", "organism": "Human", "refseq_name": "epiplakin", "refseq_ac": [ { "id": "NP_112598", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112598", "type": "external" } ], "gene_names_uniprotkb": "EPPK1; EPIPL", "gene_names_refseq": "EPIPL1; EPIPL; EPPK1", "protein_names_uniprotkb": "Epiplakin; 450 kDa epidermal antigen", "protein_names_refseq": "450 kDa epidermal antigen; epidermal autoantigen 450K; epiplakin", "tax_id": 9606, "disease": "", "pathway": " (hsa:83481)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "11237011;11278896;12665801;14708632;15671067;16923132;17081983;18669648;20068231;23186163;23301498;23398049;23481700;26374642;26375851;26768311;27206504;27452731;27862975;28832583;28834231;29242379;29331515;29393594;29463886;29557506;29786170;29789417;30315122;30397120;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32938616;32983136;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33827480;33912179;33968037;33981976;34078123;34087483;34171305;34185709;35051231;35580925;36010968;36215666;36241641;36284347;40596516;41350704", "class_list": "", "function": "Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress (PubMed:15671067, PubMed:23398049, PubMed:27206504). In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture (PubMed:23398049, PubMed:27206504). However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epithelium morphogenesis and integrity. In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments against disruption. During liver and pancreas injuries, plays a protective role by chaperoning disease-induced intermediate filament reorganization (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Epiplakin may be a cytolinker involved in maintaining the integrity of intermediate filaments networks in simple epithelial cells., [RefSeq, PubMed]; KLF5-mediated Eppk1 expression promotes cell proliferation in cervical cancer via the p38 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 88, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A0A087X1U6;Q76E58;Q9NSU9", "ec_number_list": [], "go_molecular_function": "GO:1990254 keratin filament binding;GO:0003723 RNA binding;GO:0005198 structural molecule activity;GO:0019215 intermediate filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005923 bicellular tight junction;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0045110 intermediate filament bundle assembly;GO:0030336 negative regulation of cell migration;GO:0050680 negative regulation of epithelial cell proliferation;GO:0061045 negative regulation of wound healing;GO:0010839 negative regulation of keratinocyte proliferation", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P58107-1", "record_type": "protein", "filter_code": "0000000.1000101.000100.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UID6-1", "uniprot_id": [ { "id": "ZN639_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UID6", "type": "external" } ], "mass": 56054.0, "length": 485, "protein_name": "Zinc finger protein 639", "gene_name": "ZNF639", "organism": "Human", "refseq_name": "zinc finger protein 639", "refseq_ac": [ { "id": "NP_001290354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290354", "type": "external" } ], "gene_names_uniprotkb": "ZNF639; ZASC1", "gene_names_refseq": "ANC-2H01; ANC_2H01; ZASC1; ZNF639", "protein_names_uniprotkb": "Zinc finger protein 639; Zinc finger protein ANC_2H01; Zinc finger protein ZASC1", "protein_names_refseq": "zinc finger amplified in esophageal squamous cell carcinomas 1; zinc finger protein 639", "tax_id": 9606, "disease": "", "pathway": " (hsa:51193)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;14522885;16182284;17287340;17623809;18669648;19664994;19664995;19690332;20646234;21406692;23186163;24204263;26992070;27920218;28218747;28514659;28832583;28834231;28904123;29242379;29371260;29393594;29437277;29493099;29789417;30429286;31844290;32157095;32161166;33298915;33592498;33717175;33912179;33936100;33968037;36010968;36241641", "class_list": "", "function": "Binds DNA and may function as a transcriptional repressor., [UniProtKB, PubMed]; This gene encodes a member of the Kruppel-like zinc finger family of proteins. Amplification and overexpression of this gene have been observed in esophageal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may regulate HIV-1 gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]; ZASC1 as novel regulator of HIV-1 gene expression that functions through the DNA-dependent, RNA-independent recruitment of TAT/P-TEFb to the HIV-1 promoter., [RefSeq, PubMed]; ZASC1 copy number that increased from primary to recurrent tumor suggested the importance of ZASC1 in tumor progression. The increase of ZASC1 gene copy number in recurrent tumors was associated with the consumption of betel quid in patients., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A9X3Z9;D3DNR3", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030307 positive regulation of cell growth;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9UID6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60447-1", "uniprot_id": [ { "id": "EVI5_HUMAN", "url": "https://www.uniprot.org/uniprot/O60447", "type": "external" } ], "mass": 92949.0, "length": 810, "protein_name": "Ecotropic viral integration site 5 protein homolog", "gene_name": "EVI5", "organism": "Human", "refseq_name": "ecotropic viral integration site 5 protein homolog isoform 1", "refseq_ac": [ { "id": "NP_001295177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295177", "type": "external" } ], "gene_names_uniprotkb": "EVI5; NB4S", "gene_names_refseq": "EVI-5; EVI5; NB4S", "protein_names_uniprotkb": "Ecotropic viral integration site 5 protein homolog; EVI-5; Neuroblastoma stage 4S gene protein", "protein_names_refseq": "dJ846D11.1 (ecotropic viral integration site 5); ecotropic viral integration site 5 protein homolog isoform 1; ecotropic viral integration site 5 protein homolog; neuroblastoma stage 4S gene protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7813)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;16033705;16439210;16565220;16764853;18669648;19077034;19413330;20068231;22706990;23186163;24275569;26992070;28832583;28904123;29393594;29557506;30779550;31154438;31844290;31848261;32157095;32387766;32393392;32488085;32938616;32983136;33968037;33981976;34019948;34171305;34405274;34509645;35051231;35318648;35580925;35705054;36010968;36284347;9618176", "class_list": "", "function": "A novel centrosomal protein with a complex expression pattern and subcellular localization, possibly involved in centrosome stability and dynamics, [RefSeq, PubMed]; EVI5 is an oncogene that regulates the proliferation and metastasis of NSCLC cells. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a regulator of cell cycle progression by stabilizing the FBXO5 protein and promoting cyclin-A accumulation during interphase. May play a role in cytokinesis., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NKX8;B9A6J0;Q9H1Y9", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0043547 positive regulation of GTPase activity;GO:0051301 cell division;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O60447-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5D0E6-1", "uniprot_id": [ { "id": "DALD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5D0E6", "type": "external" } ], "mass": 59363.0, "length": 543, "protein_name": "DALR anticodon-binding domain-containing protein 3", "gene_name": "DALRD3", "organism": "Human", "refseq_name": "DALR anticodon-binding domain-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001009996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009996", "type": "external" } ], "gene_names_uniprotkb": "DALRD3", "gene_names_refseq": "DALRD3; DEE86; EIEE86", "protein_names_uniprotkb": "DALR anticodon-binding domain-containing protein 3", "protein_names_refseq": "DALR anticodon-binding domain-containing protein 3 isoform 1; DALR anticodon-binding domain-containing protein 3", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 86 (Disease Ontology:DOID:0112220)", "pathway": " (hsa:55152)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;23481700;24715725;25576301;28228285;28832583;28904123;29242379;29393594;29786170;30315122;31844290;32387766;32427860;32897882;32938616;33141586;33592498;33691108;35051231;39482881", "class_list": "", "function": "DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in tRNA methylation. Facilitates the recognition and targeting of tRNA(Arg)(CCU) and tRNA(Arg)(UCU) substrates for N(3)-methylcytidine modification by METTL2A and METTL2B., [UniProtKB, PubMed, PubMed]; The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z5S7;Q86WY1;Q8N105;Q8NA89;Q9NVU8", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0000049 tRNA binding;GO:0004814 arginine-tRNA ligase activity", "go_cellular_component": "", "go_biological_process": "GO:0006420 arginyl-tRNA aminoacylation;GO:0106217 tRNA C3-cytosine methylation", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q5D0E6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WW18-1", "uniprot_id": [ { "id": "CQ050_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WW18", "type": "external" } ], "mass": 19346.0, "length": 174, "protein_name": "Uncharacterized protein C17orf50", "gene_name": "C17orf50", "organism": "Human", "refseq_name": "uncharacterized protein C17orf50", "refseq_ac": [ { "id": "NP_660315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660315", "type": "external" } ], "gene_names_uniprotkb": "C17orf50", "gene_names_refseq": "C17orf50", "protein_names_uniprotkb": "Uncharacterized protein C17orf50", "protein_names_refseq": "uncharacterized protein C17orf50", "tax_id": 9606, "disease": "", "pathway": " (hsa:146853)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;19913121;20628086;37217939;39894887", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6Q621", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8WW18-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUD7-1", "uniprot_id": [ { "id": "CT096_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUD7", "type": "external" } ], "mass": 42859.0, "length": 363, "protein_name": "Uncharacterized protein C20orf96", "gene_name": "C20orf96", "organism": "Human", "refseq_name": "uncharacterized protein C20orf96 isoform 2", "refseq_ac": [ { "id": "NP_542138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542138", "type": "external" } ], "gene_names_uniprotkb": "C20orf96", "gene_names_refseq": "C20orf96; dJ1103G7.2", "protein_names_uniprotkb": "Uncharacterized protein C20orf96", "protein_names_refseq": "uncharacterized protein C20orf96 isoform 2; uncharacterized protein C20orf96", "tax_id": 9606, "disease": "", "pathway": " (hsa:140680)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;25418920;26992070;27600516;28834231;31844290;32387766;32488085;32502341;36215666;37938771;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A3KPE0;B2RPH9;Q8N840;Q8NAX5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9NUD7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBI6-1", "uniprot_id": [ { "id": "CP4FB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBI6", "type": "external" } ], "mass": 60146.0, "length": 524, "protein_name": "Cytochrome P450 4F11", "gene_name": "CYP4F11", "organism": "Human", "refseq_name": "cytochrome P450 4F11", "refseq_ac": [ { "id": "NP_001122404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122404", "type": "external" } ], "gene_names_uniprotkb": "CYP4F11", "gene_names_refseq": "CYP4F11; CYPIVF11", "protein_names_uniprotkb": "Cytochrome P450 4F11; 1.14.14.1; 1.14.14.78; 1.14.14.79; 1.14.14.80; 3-hydroxy fatty acids omega-hydroxylase CYP4F11; CYPIVF11; Docosahexaenoic acid omega-hydroxylase; Long-chain fatty acid omega-monooxygenase; Phylloquinone omega-hydroxylase CYP4F11", "protein_names_refseq": "3-hydroxy fatty acids omega-hydroxylase CYP4F11; cytochrome P450 4F11; cytochrome P450, family 4, subfamily F, polypeptide 11; cytochrome P450, subfamily IVF, polypeptide 11; docosahexaenoic acid omega-hydroxylase; long-chain fatty acid omega-monooxygenase; phylloquinone omega-hydroxylase CYP4F11", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:57834); (R-HSA-211935); (R-HSA-211958); (R-HSA-211979); (R-HSA-2142691)", "pathway_count": 5, "publication_count": 71, "publication_id_list": "10064732;10405341;10779545;10791960;10964514;11160876;11162607;11237011;11844797;12711469;1359745;14660610;15006160;15364545;15548719;15604543;16436457;16677611;16795963;18065749;18184802;1848634;18647347;19743890;19932081;20436887;21447318;23076889;24138531;25576301;26992070;27046942;2753893;2768222;28347661;2836406;2864155;2866075;2877850;2882965;29133059;29557506;2995393;3006030;3020588;30669;31154438;3118366;3164719;33310663;33981976;34059446;3563417;36565673;37373382;37973374;3933675;6122208;6293969;6490615;7937884;8052639;8394361;8576264;8631948;8913342;8914854;9461497;9539102;9600267;9799565", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and their oxygenated derivatives (oxylipins) (PubMed:15364545, PubMed:18065749, PubMed:24138531, PubMed:37373382). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:15364545, PubMed:18065749, PubMed:24138531, PubMed:37373382). Catalyzes with high efficiency the oxidation of the terminal carbon (omega-oxidation) of 3-hydroxy fatty acids, such as 3-hydroxyhexadecanoic and 3-hydroxyoctadecanoic acids, likely participating in the biosynthesis of long-chain 3-hydroxydicarboxylic acids (PubMed:18065749, PubMed:19932081). Omega-hydroxylates and inactivates phylloquinone (vitamin K1), and menaquinone-4 (MK-4, a form of vitamin K2), both acting as cofactors in blood coagulation (PubMed:24138531). Metabolizes with low efficiciency fatty acids, including (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) and its oxygenated metabolite 8-hydroxyeicosatetraenoic acid (8-HETE) (PubMed:15364545, PubMed:19932081). Catalyzes N- and O-demethylation of drugs such as erythromycin, benzphetamine, ethylmorphine, chlorpromazine, imipramine and verapamil (PubMed:15364545). Catalyzes the oxidation of dialkylresorcinol 2 (PubMed:36565673)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; A novel gene associated with small bowel bleeding in patients taking low-dose aspirin., [RefSeq, PubMed]; Deciphering the Role of Fatty Acid-Metabolizing CYP4F11 in Lung Cancer and Its Potential As a Drug Target. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of cytochrome P450 4F11 expression by liver X receptor alpha., [RefSeq, PubMed]; Results suggest that the metabolism of CYP4F11 substrates may be reduced in individuals carrying the CYP4F11 D315N genetic variant and individuals carrying the common D446N CYP4F11 variant likely exhibit comparable 20-HETE synthesis as individuals expressing wild-type CYP4F11., [RefSeq, PubMed]; This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R7G0;A8K059;O75254;Q96AQ5", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "1.14.13.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.n7", "type": "external" }, { "id": "1.14.14.55", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.55", "type": "external" }, { "id": "1.14.14.56", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.56", "type": "external" }, { "id": "1.14.14.73", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.73", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.14.14.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.51", "type": "external" }, { "id": "1.14.14.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.52", "type": "external" }, { "id": "1.14.14.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.53", "type": "external" }, { "id": "1.14.14.75", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.75", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" }, { "id": "1.14.14.177", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.177", "type": "external" }, { "id": "1.14.14.130", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.130", "type": "external" } ], "go_molecular_function": "GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;GO:0005504 fatty acid binding;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0097267 omega-hydroxylase P450 pathway;GO:0006631 fatty acid metabolic process;GO:0007596 blood coagulation;GO:0042376 phylloquinone catabolic process;GO:0019369 arachidonate metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9HBI6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58512-1", "uniprot_id": [ { "id": "CU067_HUMAN", "url": "https://www.uniprot.org/uniprot/P58512", "type": "external" } ], "mass": 21308.0, "length": 204, "protein_name": "Uncharacterized protein encoded by LINC01547", "gene_name": "LINC01547", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01547; C21orf67; C21orf69", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein encoded by LINC01547", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "11707072;24715725;30626607;32938616", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P58556;Q495D3;Q495D5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P58512-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59036-1", "uniprot_id": [ { "id": "CU082_HUMAN", "url": "https://www.uniprot.org/uniprot/P59036", "type": "external" } ], "mass": 7298.0, "length": 64, "protein_name": "Putative uncharacterized protein encoded by LINC00310", "gene_name": "LINC00310", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00310; C21orf82; NCRNA00310", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00310", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "12036297;30379171", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q52LY1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P59036-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59091-1", "uniprot_id": [ { "id": "CU093_HUMAN", "url": "https://www.uniprot.org/uniprot/P59091", "type": "external" } ], "mass": 15087.0, "length": 139, "protein_name": "Putative uncharacterized protein encoded by LINC00315", "gene_name": "LINC00315", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00315; C21orf93; NCRNA00315", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00315", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "12036297", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P59091-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59861-1", "uniprot_id": [ { "id": "D131A_HUMAN", "url": "https://www.uniprot.org/uniprot/P59861", "type": "external" } ], "mass": 8199.0, "length": 70, "protein_name": "Beta-defensin 131A", "gene_name": "DEFB131A", "organism": "Human", "refseq_name": "beta-defensin 131A precursor", "refseq_ac": [ { "id": "NP_001035538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035538", "type": "external" } ], "gene_names_uniprotkb": "DEFB131A; DEFB131; DEFB31", "gene_names_refseq": "DEFB-31; DEFB131A; DEFB131", "protein_names_uniprotkb": "Beta-defensin 131A; Beta-defensin 31; DEFB-31; Defensin, beta 131", "protein_names_refseq": "beta-defensin 131A precursor; beta-defensin 131A; beta-defensin 131; beta-defensin 31; defensin beta 131; defensin, beta 31", "tax_id": 9606, "disease": "", "pathway": " (hsa:644414); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 15, "publication_id_list": "10521347;10914484;11085990;11702237;11934878;12600824;12949495;16033865;18006661;20214904;20385753;20483750;21122132;26649771;9541493", "class_list": "", "function": "DEFB131 induces cytokine and chemokine upregulation through the TLR2/NF-kappaB signaling pathway in RWPE-1 cells during bacterial infection and promotes an innate immune response Publication Status: Online-Only, [RefSeq, PubMed]; Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 4p16. [provided by RefSeq, Nov 2014]., [RefSeq]; Has antibacterial activity (Probable). Upon stimulation with lipoteichoic acid, promotes cytokines and chemokines production and secretion (PubMed:26649771)., [UniProtKB, PubMed]; The protein encoded by this gene is thought to display antimicrobial activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0045087 innate immune response;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "P59861-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07325-1", "uniprot_id": [ { "id": "CXCL9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07325", "type": "external" } ], "mass": 14019.0, "length": 125, "protein_name": "C-X-C motif chemokine 9", "gene_name": "CXCL9", "organism": "Human", "refseq_name": "C-X-C motif chemokine 9 precursor", "refseq_ac": [ { "id": "NP_002407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002407", "type": "external" } ], "gene_names_uniprotkb": "CXCL9; CMK; MIG; SCYB9", "gene_names_refseq": "CMK; CXCL9; Humig; MIG; SCYB9; crg-10", "protein_names_uniprotkb": "C-X-C motif chemokine 9; Gamma-interferon-induced monokine; HuMIG; MIG; Monokine induced by interferon-gamma; Small-inducible cytokine B9", "protein_names_refseq": "C-X-C motif chemokine 9 precursor; C-X-C motif chemokine 9; chemokine (C-X-C motif) ligand 9; gamma-interferon-induced monokine; monokine induced by gamma interferon; monokine induced by interferon-gamma; small-inducible cytokine B9", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); pulmonary sarcoidosis (Disease Ontology:DOID:13406); thoracic aortic aneurysm (Disease Ontology:DOID:14004); cystic fibrosis (Disease Ontology:DOID:1485); bronchiolitis obliterans (Disease Ontology:DOID:2799); severe acute respiratory syndrome (Disease Ontology:DOID:2945); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); tuberculosis (Disease Ontology:DOID:399); systemic scleroderma (Disease Ontology:DOID:418); pneumonia (Disease Ontology:DOID:552); extrinsic allergic alveolitis (Disease Ontology:DOID:841); chronic fatigue syndrome (Disease Ontology:DOID:8544); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:4283); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10229797;10233762;10640743;10706668;10725696;10725697;10781587;11007482;11060282;12120503;12149255;12554737;12884299;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;2423119;24715725;2534964;2748346;2834384;29557506;2970963;30429286;3098319;3260265;32983136;33936100;35051231;38229121;38822345;38963237;39190494;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8476424;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "Augmentation of tumor expression of HLA-DR, CXCL9, and CXCL10 may improve olfactory neuroblastoma immunotherapeutic responses. Erratum:[J Transl Med. 2024 Sep 11;22(1):836. doi: 10.1186/s12967-024-05514-y. PMID: 39261932] Publication Status: Online-Only, [RefSeq, PubMed]; CXCL9 may serve as a potential biomarker for primary Sjogren's syndrome with extra-glandular manifestations. Publication Status: Online-Only, [RefSeq, PubMed]; CXCL9, CXCL10, and CCL19 synergistically recruit T lymphocytes to skin in lichen planus. Publication Status: Online-Only, [RefSeq, PubMed]; Cytokine that affects the growth, movement, or activation state of cells that participate in immune and inflammatory response. Chemotactic for activated T-cells. Binds to CXCR3., [UniProtKB]; The bioinfomatics analysis of the M1 macrophage-related gene CXCL9 signature in cervical cancer., [RefSeq, PubMed]; This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded is thought to be involved in T cell trafficking. The encoded protein binds to C-X-C motif chemokine 3 and is a chemoattractant for lymphocytes but not for neutrophils. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q503B4", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0008009 chemokine activity;GO:0045236 CXCR chemokine receptor binding;GO:0048248 CXCR3 chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0006952 defense response;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q07325-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0P5P2-1", "uniprot_id": [ { "id": "CQ067_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0P5P2", "type": "external" } ], "mass": 10670.0, "length": 90, "protein_name": "Uncharacterized protein C17orf67", "gene_name": "C17orf67", "organism": "Human", "refseq_name": "uncharacterized protein C17orf67 precursor", "refseq_ac": [ { "id": "NP_001078899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078899", "type": "external" } ], "gene_names_uniprotkb": "C17orf67", "gene_names_refseq": "C17orf67", "protein_names_uniprotkb": "Uncharacterized protein C17orf67", "protein_names_refseq": "uncharacterized protein C17orf67 precursor; uncharacterized protein C17orf67", "tax_id": 9606, "disease": "", "pathway": " (hsa:339210)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "19266077;33392160", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q0P5P2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VDD5-1", "uniprot_id": [ { "id": "CQ091_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VDD5", "type": "external" } ], "mass": 6478.0, "length": 57, "protein_name": "Putative uncharacterized protein encoded by MIR22HG", "gene_name": "MIR22HG", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MIR22HG; C17orf91", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by MIR22HG", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "31848261;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0VDD6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q0VDD5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q30KQ6-1", "uniprot_id": [ { "id": "DB114_HUMAN", "url": "https://www.uniprot.org/uniprot/Q30KQ6", "type": "external" } ], "mass": 8318.0, "length": 69, "protein_name": "Beta-defensin 114", "gene_name": "DEFB114", "organism": "Human", "refseq_name": "beta-defensin 114 precursor", "refseq_ac": [ { "id": "NP_001032588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032588", "type": "external" } ], "gene_names_uniprotkb": "DEFB114; DEFB14", "gene_names_refseq": "DEFB-14; DEFB114; DEFB14", "protein_names_uniprotkb": "Beta-defensin 114; Beta-defensin 14; DEFB-14; Defensin, beta 114", "protein_names_refseq": "beta-defensin 114 precursor; beta-defensin 114; beta-defensin 14; defensin, beta 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:245928); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 15, "publication_id_list": "10521347;10914484;11085990;11702237;11854508;11934878;12949495;16033865;18006661;20214904;20385753;20483750;21122132;23482568;9541493", "class_list": "", "function": "Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]., [RefSeq]; Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli, Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS-induced reduction of sperm motility in vitro and may protect from LPS-induced lethality., [UniProtKB, PubMed]; Human beta-defensin 114 regulates lipopolysaccharide (LPS)-mediated inflammation and protects sperm from motility loss. It also has antimicrobial activity against E. coli, S. aureus, and C. albicans., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NES9", "ec_number_list": [], "go_molecular_function": "GO:0042056 chemoattractant activity;GO:0001530 lipopolysaccharide binding;GO:0031731 CCR6 chemokine receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0032720 negative regulation of tumor necrosis factor production;GO:0050729 positive regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q30KQ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q30KQ7-1", "uniprot_id": [ { "id": "DB113_HUMAN", "url": "https://www.uniprot.org/uniprot/Q30KQ7", "type": "external" } ], "mass": 9640.0, "length": 82, "protein_name": "Beta-defensin 113", "gene_name": "DEFB113", "organism": "Human", "refseq_name": "beta-defensin 113 precursor", "refseq_ac": [ { "id": "NP_001032818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032818", "type": "external" } ], "gene_names_uniprotkb": "DEFB113; DEFB13", "gene_names_refseq": "DEFB-13; DEFB113", "protein_names_uniprotkb": "Beta-defensin 113; Beta-defensin 13; DEFB-13; Defensin, beta 113", "protein_names_refseq": "beta-defensin 113 precursor; beta-defensin 113; beta-defensin 13; defensin, beta 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:245927); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 14, "publication_id_list": "10521347;10914484;11085990;11702237;11934878;12949495;16033865;18006661;20214904;20385753;20483750;21122132;35051231;9541493", "class_list": "", "function": "Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]., [RefSeq]; Has antibacterial activity., [UniProtKB]; The encoded protein is thought to display antimicrobial activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0045087 innate immune response;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q30KQ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q30KQ8-1", "uniprot_id": [ { "id": "DB112_HUMAN", "url": "https://www.uniprot.org/uniprot/Q30KQ8", "type": "external" } ], "mass": 12991.0, "length": 113, "protein_name": "Beta-defensin 112", "gene_name": "DEFB112", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "DEFB112; DEFB12", "gene_names_refseq": "", "protein_names_uniprotkb": "Beta-defensin 112; Beta-defensin 12; DEFB-12; Defensin, beta 112", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:245915); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 15, "publication_id_list": "10521347;10914484;11085990;11237011;11702237;11854508;11934878;12949495;16033865;18006661;20214904;20385753;20483750;21122132;9541493", "class_list": "", "function": "Has antibacterial activity., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NET0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0045087 innate immune response;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q30KQ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53H64-1", "uniprot_id": [ { "id": "AK40L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53H64", "type": "external" } ], "mass": 13397.0, "length": 114, "protein_name": "Putative ANKRD40 C-terminal-like protein", "gene_name": "ANKRD40CL", "organism": "Human", "refseq_name": "putative ANKRD40 C-terminal-like protein isoform 2", "refseq_ac": [ { "id": "NP_001345612", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001345612", "type": "external" } ], "gene_names_uniprotkb": "ANKRD40CL; C17orf73; LINC00483", "gene_names_refseq": "ANKRD40CL; C17orf73; LINC00483", "protein_names_uniprotkb": "Putative ANKRD40 C-terminal-like protein", "protein_names_refseq": "long intergenic non-protein coding RNA 483; putative ANKRD40 C-terminal-like protein isoform 2; putative ANKRD40 C-terminal-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55018)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;31454494;33629308", "class_list": "", "function": "Knock-down of Long non-coding RNA Linc00483 inhibited the development of cervical cancer by regulating miR-508-3p/RGS17 axis., [RefSeq, PubMed]; LINC00483 is regulated by IGF2BP1 and participates in the progression of breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NWQ1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q53H64-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VT33-1", "uniprot_id": [ { "id": "CX031_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VT33", "type": "external" } ], "mass": 9515.0, "length": 79, "protein_name": "Putative uncharacterized protein encoded by LINC01545", "gene_name": "LINC01545", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01545; CXorf31", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01545", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5VT33-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWQ8-1", "uniprot_id": [ { "id": "DAB2P_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWQ8", "type": "external" } ], "mass": 131625.0, "length": 1189, "protein_name": "Disabled homolog 2-interacting protein", "gene_name": "DAB2IP", "organism": "Human", "refseq_name": "disabled homolog 2-interacting protein isoform 1", "refseq_ac": [ { "id": "NP_115941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115941", "type": "external" } ], "gene_names_uniprotkb": "DAB2IP; AF9Q34; AIP1; KIAA1743", "gene_names_refseq": "AF9Q34; AIP-1; AIP1; DAB2IP; DIP1/2", "protein_names_uniprotkb": "Disabled homolog 2-interacting protein; AIP-1; ASK-interacting protein 1; DAB2 interaction protein; DAB2-interacting protein; DOC-2/DAB-2 interactive protein", "protein_names_refseq": "ASK-interacting protein 1; ASK1-interacting protein 1; DAB2 interaction protein; DOC-2/DAB2 interactive protein; disabled homolog 2-interacting protein isoform 1; disabled homolog 2-interacting protein; nGAP-like protein", "tax_id": 9606, "disease": "peripheral artery disease (Disease Ontology:DOID:0050830); developmental disorder of mental health (Disease Ontology:DOID:0060037); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); lung cancer (Disease Ontology:DOID:1324); atherosclerosis (Disease Ontology:DOID:1936); coronary artery disease (Disease Ontology:DOID:3393); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); abdominal aortic aneurysm (Disease Ontology:DOID:7693); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); pulmonary embolism (Disease Ontology:DOID:9477)", "pathway": " (hsa:153090); (R-HSA-5658442)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "11237011;11493923;11944990;12446720;12600938;12646235;12787671;12813029;14978793;15310755;15683364;1570011;15701637;16478641;17389591;18292600;19033661;19573811;19903888;19948740;20080667;20154697;2121370;21406692;21700930;22696229;22751498;22802525;23186163;23443682;23661552;24814062;25576301;25645385;27858941;28649982;29156729;29242379;29557506;29786170;30484775;30779550;31154438;31844290;32157095;32161166;32387766;32488085;32502341;32938616;33298915;33592498;33968037;33981976;34087483;34509645;34561969;35051231;35580925;36215666;36241641;36284347;36536485;36939385;37880458;38015711;38823490;8563751;9219684;9302992", "class_list": "", "function": "CircSLCO1B7 suppresses the malignant progression of hepatocellular carcinoma via the miR-556-3p/DAB2IP axis., [RefSeq, PubMed]; DAB2IP Is a Bifunctional Tumor Suppressor That Regulates Wild-Type RAS and Inflammatory Cascades in KRAS Mutant Colon Cancer., [RefSeq, PubMed]; DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology., [RefSeq, PubMed]; DAB2IP attenuates chemoresistance of triple-negative breast cancer through sequestration of RAC1 to prevent beta-catenin nuclear accumulation., [RefSeq, PubMed]; DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]., [RefSeq]; DAB2IP stabilizes p27[Kip1] via suppressing PI3K/AKT signaling in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Epigenetic regulation of this novel tumor suppressor gene in prostate cancer cell lines., [RefSeq, PubMed]; Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Also plays a role in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF), interferon (IFN) or lipopolysaccharide (LPS). Modulates the balance between phosphatidylinositol 3-kinase (PI3K)-AKT-mediated cell survival and apoptosis stimulated kinase (MAP3K5)-JNK signaling pathways; sequesters both AKT1 and MAP3K5 and counterbalances the activity of each kinase by modulating their phosphorylation status in response to pro-inflammatory stimuli. Acts as a regulator of the endoplasmic reticulum (ER) unfolded protein response (UPR) pathway; specifically involved in transduction of the ER stress-response to the JNK cascade through ERN1. Mediates TNF-induced apoptosis activation by facilitating dissociation of inhibitor 14-3-3 from MAP3K5; recruits the PP2A phosphatase complex which dephosphorylates MAP3K5 on 'Ser-966', leading to the dissociation of 13-3-3 proteins and activation of the MAP3K5-JNK signaling pathway in endothelial cells. Also mediates TNF/TRAF2-induced MAP3K5-JNK activation, while it inhibits CHUK-NF-kappa-B signaling. Acts a negative regulator in the IFN-gamma-mediated JAK-STAT signaling cascade by inhibiting smooth muscle cell (VSMCs) proliferation and intimal expansion, and thus, prevents graft arteriosclerosis (GA). Acts as a GTPase-activating protein (GAP) for the ADP ribosylation factor 6 (ARF6), Ras and RAB40C (PubMed:29156729). Promotes hydrolysis of the ARF6-bound GTP and thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-B signaling pathways in endothelial cells in response to lipopolysaccharides (LPS). Binds specifically to phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylinositol 3-phosphate (PtdIns3P). In response to vascular endothelial growth factor (VEGFA), acts as a negative regulator of the VEGFR2-PI3K-mediated angiogenic signaling pathway by inhibiting endothelial cell migration and tube formation. In the developing brain, promotes both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex in a glial-dependent locomotion process. Probable downstream effector of the Reelin signaling pathway; promotes Purkinje cell (PC) dendrites development and formation of cerebellar synapses. Also functions as a tumor suppressor protein in prostate cancer progression; prevents cell proliferation and epithelial-to-mesenchymal transition (EMT) through activation of the glycogen synthase kinase-3 beta (GSK3B)-induced beta-catenin and inhibition of PI3K-AKT and Ras-MAPK survival downstream signaling cascades, respectively., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Normal prostatic epithelial cells have elevated DAB2IP mRNA compared with cancer cells, which correlates with increased DAB2IP promoter activity., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 16, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6H8V2;A6NHI9;B0QZB1;G3XA90;Q8TDL2;Q96SE1;Q9C0C0", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:1900744 regulation of p38MAPK cascade;GO:0010633 negative regulation of epithelial cell migration;GO:0046580 negative regulation of Ras protein signal transduction;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001525 angiogenesis", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q5VWQ8-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68DL7-1", "uniprot_id": [ { "id": "CR063_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68DL7", "type": "external" } ], "mass": 77230.0, "length": 685, "protein_name": "Uncharacterized protein C18orf63", "gene_name": "C18orf63", "organism": "Human", "refseq_name": "uncharacterized protein C18orf63", "refseq_ac": [ { "id": "NP_001167594", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167594", "type": "external" } ], "gene_names_uniprotkb": "C18orf63", "gene_names_refseq": "C18orf63; DKFZP781G0119", "protein_names_uniprotkb": "Uncharacterized protein C18orf63", "protein_names_refseq": "uncharacterized protein C18orf63", "tax_id": 9606, "disease": "", "pathway": " (hsa:644041)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10.1101/2023.09.13.557529;21740066;25576301;27600516;28832583;31844290;32488085;35051231;38253038", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NME8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q68DL7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IC83-1", "uniprot_id": [ { "id": "CV042_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IC83", "type": "external" } ], "mass": 27691.0, "length": 251, "protein_name": "Uncharacterized protein C22orf42", "gene_name": "C22orf42", "organism": "Human", "refseq_name": "uncharacterized protein C22orf42", "refseq_ac": [ { "id": "NP_001010859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010859", "type": "external" } ], "gene_names_uniprotkb": "C22orf42", "gene_names_refseq": "C22orf42; dJ90G24.6", "protein_names_uniprotkb": "Uncharacterized protein C22orf42", "protein_names_refseq": "uncharacterized protein C22orf42", "tax_id": 9606, "disease": "", "pathway": " (hsa:150297)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "28411811;31530632;31844290;32350084;35494241", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4QPH5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6IC83-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UVK1-1", "uniprot_id": [ { "id": "CSPG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UVK1", "type": "external" } ], "mass": 250537.0, "length": 2322, "protein_name": "Chondroitin sulfate proteoglycan 4", "gene_name": "CSPG4", "organism": "Human", "refseq_name": "chondroitin sulfate proteoglycan 4 precursor", "refseq_ac": [ { "id": "NP_001888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001888", "type": "external" } ], "gene_names_uniprotkb": "CSPG4; MCSP", "gene_names_refseq": "CSPG4A; CSPG4; HMW-MAA; MCSPG; MCSP; MEL-CSPG; MSK16; NG2", "protein_names_uniprotkb": "Chondroitin sulfate proteoglycan 4; Chondroitin sulfate proteoglycan NG2; Melanoma chondroitin sulfate proteoglycan; Melanoma-associated chondroitin sulfate proteoglycan", "protein_names_refseq": "chondroitin sulfate proteoglycan 4 (melanoma-associated); chondroitin sulfate proteoglycan 4 precursor; chondroitin sulfate proteoglycan NG2; melanoma chondroitin sulfate proteoglycan; melanoma-associated chondroitin sulfate proteoglycan", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); stroke (Disease Ontology:DOID:0051061); depressive disorder (Disease Ontology:DOID:1596); brain ischemia (Disease Ontology:DOID:2316); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); tuberculosis (Disease Ontology:DOID:399); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acute myeloid leukemia (Disease Ontology:DOID:9119); neonatal abstinence syndrome (Disease Ontology:DOID:9828); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970); drug dependence (Disease Ontology:DOID:9974); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1464); (R-HSA-1971475); (R-HSA-2022870); (R-HSA-2022923); (R-HSA-2024101); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3595172); (R-HSA-3595174); (R-HSA-3595177); (R-HSA-4420332); (R-HSA-9725554)", "pathway_count": 12, "publication_count": 172, "publication_id_list": "10.1101/2023.09.13.557529;10187838;10339581;10473568;10506123;10587647;10781596;10781601;10842173;10963998;11056388;11099377;11139592;11278606;11414686;11470797;11514575;11551958;11568288;11788602;11877387;12067728;12080076;12145278;12163485;12220645;12512856;12522689;12556911;12624109;12761225;12874280;12888274;12907687;14993226;15140226;15181153;15210734;15211654;15215498;15234001;15294915;15461586;15504744;15556625;15647514;15675955;15780751;16297201;16335952;16505484;17074750;17194707;17227754;17330888;18316376;18513679;18698629;1907800;19188366;19224584;1928092;1946389;19473117;19661164;19889881;19924134;20004762;20533528;20691685;20830804;21129727;21129728;2122463;21763480;22424782;22735594;22810237;23283814;23629652;23656592;23664117;23664118;23704329;24425863;24443026;24794495;25521717;25547119;25576301;25645385;25892735;26340985;27424145;27599773;27600516;27680706;27846572;27893789;28228285;28871256;29308320;29393594;29514872;29557506;29671580;2971395;29786170;30192525;30429286;30459171;30524438;30779550;30905808;31154438;31217245;31222486;31233493;3134052;31399284;31530632;31844290;31848261;32157095;32161166;32337544;32350084;32357974;32387766;32488085;32502341;32582212;32938616;33214551;33592498;33968037;33981976;34019948;34078123;34087483;34103348;3468507;35051231;35251023;35580925;36213313;36215666;36228153;36241641;36284347;36634519;36674693;36972308;37074911;37154195;37938771;38253038;38338902;38665916;40596516;5822067;738706;7628016;8213840;8790396;9223416;9488735;9506957;9521684;9823490;9883891;9892646", "class_list": "glycogene", "function": "A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]., [RefSeq]; Chondroitin Sulfate Proteoglycan 4 Provides New Treatment Approach to Preventing Peritoneal Dissemination in Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Discovery of Hippo signaling as a regulator of CSPG4 expression and as a therapeutic target for Clostridioides difficile disease. Publication Status: Online-Only, [RefSeq, PubMed]; Disrupting mechanical homeostasis promotes matrix metalloproteinase-13 mediated processing of neuron glial antigen 2 in mandibular condylar cartilage. Publication Status: Online-Only, [RefSeq, PubMed]; Neuron-Glial Antigen 2 Participates in Liver Fibrosis via Regulating the Differentiation of Bone Marrow Mesenchymal Stem Cell to Myofibroblast. Publication Status: Online-Only, [RefSeq, PubMed]; Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N-terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma cells invasion properties. May modulate the plasminogen system by enhancing plasminogen activation and inhibiting angiostatin. Also functions as a signal transducing protein by binding through its cytoplasmic C-terminus scaffolding and signaling proteins. May promote retraction fiber formation and cell polarization through Rho GTPase activation. May stimulate alpha-4, beta-1 integrin-mediated adhesion and spreading by recruiting and activating a signaling cascade through CDC42, ACK1 and BCAR1. May activate FAK and ERK1/ERK2 signaling cascades., [UniProtKB, PubMed, PubMed, PubMed]; Trophoblast-specific knockdown of CSPG4 expression causes pregnancy complications with poor placentation in mice., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 9, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2767, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 13, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "D3DW77;Q92675", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface", "go_biological_process": "GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "Q6UVK1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UW02-1", "uniprot_id": [ { "id": "CP20A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UW02", "type": "external" } ], "mass": 52432.0, "length": 462, "protein_name": "Cytochrome P450 20A1", "gene_name": "CYP20A1", "organism": "Human", "refseq_name": "cytochrome P450 20A1 isoform 2", "refseq_ac": [ { "id": "NP_803882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_803882", "type": "external" } ], "gene_names_uniprotkb": "CYP20A1; PRO1301", "gene_names_refseq": "CYP-M; CYP20A1", "protein_names_uniprotkb": "Cytochrome P450 20A1; 1.14.-.-", "protein_names_refseq": "cytochrome P450 20A1 isoform 2; cytochrome P450 20A1; cytochrome P450 monooxygenase; cytochrome P450, family 20, subfamily A, polypeptide 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57404)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "11237011;12975309;19898482;22544926;23481700;25576301;25645385;25892735;26375851;26992070;27600516;28228285;28832583;28834231;28904123;29242379;29493099;29557506;29632711;29769354;29786170;30315122;30524438;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33434274;33717175;33912179;33936100;33968037;33981976;34087483;34185709;34302632;34405274;34509645;35051231;35580925;36010968;36241641;36284347;36581221;37938771", "class_list": "", "function": "Multiple Alu Exonization in 3'UTR of a Primate-Specific Isoform of CYP20A1 Creates a Potential miRNA Sponge., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2013 May;45(5):578], [RefSeq, PubMed]; The association study between CYP20A1, CYP4F2, CYP2D6 gene polymorphisms and coronary heart disease risk in the Han population in southern China., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZG61;Q8N4Q8;Q8WWA9;Q9HC04", "ec_number_list": [], "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0004497 monooxygenase activity;GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q6UW02-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6XXX2-1", "uniprot_id": [ { "id": "CU024_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6XXX2", "type": "external" } ], "mass": 15753.0, "length": 140, "protein_name": "Putative uncharacterized protein encoded by LINC00114", "gene_name": "LINC00114", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00114; C21orf24; NCRNA00114", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00114", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "14693372;28832583", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6XXX2-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZN03-1", "uniprot_id": [ { "id": "CU136_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZN03", "type": "external" } ], "mass": 32374.0, "length": 302, "protein_name": "Putative uncharacterized protein encoded by LINC00322", "gene_name": "LINC00322", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00322; C21orf136; NCRNA00322", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00322", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "30379171;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZN03-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZWL3-1", "uniprot_id": [ { "id": "CP4V2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZWL3", "type": "external" } ], "mass": 60724.0, "length": 525, "protein_name": "Cytochrome P450 4V2", "gene_name": "CYP4V2", "organism": "Human", "refseq_name": "cytochrome P450 4V2", "refseq_ac": [ { "id": "NP_997235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997235", "type": "external" } ], "gene_names_uniprotkb": "CYP4V2", "gene_names_refseq": "BCD; CYP4AH1; CYP4V2", "protein_names_uniprotkb": "Cytochrome P450 4V2; 1.14.14.79; 1.14.14.80; Docosahexaenoic acid omega-hydroxylase CYP4V2; Long-chain fatty acid omega-monooxygenase", "protein_names_refseq": "cytochrome P450 4V2; cytochrome P450, family 4, subfamily V, polypeptide 2; docosahexaenoic acid omega-hydroxylase CYP4V2; long-chain fatty acid omega-monooxygenase", "tax_id": 9606, "disease": "Bietti crystalline corneoretinal dystrophy (Disease Ontology:DOID:0050664)", "pathway": " (hsa:285440); (R-HSA-211976); (R-HSA-2453902)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10075733;10588945;10617778;10753906;11123914;11274389;11555828;12036956;12177057;12407145;15042513;15314061;15471866;15865448;1708392;17255476;1741400;19049981;1925597;19309693;19661213;20149798;20192770;21493626;21636783;21774515;2256920;22665496;22772592;2303470;23481700;2542268;25576301;25645385;25880248;2592361;27862975;28649982;28832583;28904123;29242379;29493099;29557506;29789417;3024157;3038528;30429286;30779550;3170584;31844290;32157095;32357974;32387766;32488085;32938616;32983136;33912179;33968037;34185709;3487786;35051231;35580925;36284347;36437455;36675035;36795063;38066650;5315589;6288450;6342691;6512705;6589631;6679757;7929238;8105993;8619637;8884265;9490294;9536209;9541407;9578606;9703434;9920938", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye. Catalyzes the omega-hydroxylation of polyunsaturated fatty acids (PUFAs) docosahexaenoate (DHA) and its precursor eicosapentaenoate (EPA), and may contribute to the homeostasis of these retinal PUFAs (PubMed:22772592). Omega hydroxylates saturated fatty acids such as laurate, myristate and palmitate, the catalytic efficiency decreasing in the following order: myristate > laurate > palmitate (C14>C12>C16) (PubMed:19661213). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase)., [UniProtKB, PubMed, PubMed]; An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy., [RefSeq, PubMed]; Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2, [RefSeq, PubMed]; CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Structural Investigation of Beta-Cyclodextrin Complexes with Cannabidiol and Delta-9-Tetrahydrocannabinol in 1:1 and 2:1 Host-Guest Stoichiometry: Molecular Docking and Density Functional Calculations. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7U6W2;Q6ZTM4", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "1.14.14.78", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.78", "type": "external" }, { "id": "1.14.14.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.79", "type": "external" }, { "id": "1.14.14.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.94", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "type": "external" } ], "go_molecular_function": "GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0102033 long-chain fatty acid omega-hydroxylase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0010430 fatty acid omega-oxidation;GO:0007601 visual perception;GO:0016125 sterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q6ZWL3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4B0-1", "uniprot_id": [ { "id": "CR020_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4B0", "type": "external" } ], "mass": 12600.0, "length": 112, "protein_name": "Putative uncharacterized protein encoded by LINC00305", "gene_name": "LINC00305", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00305; C18orf20; NCRNA00305", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00305", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8NHR5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q7Z4B0-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YQ8-1", "uniprot_id": [ { "id": "CPNE8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YQ8", "type": "external" } ], "mass": 63108.0, "length": 564, "protein_name": "Copine-8", "gene_name": "CPNE8", "organism": "Human", "refseq_name": "copine-8", "refseq_ac": [ { "id": "NP_705898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_705898", "type": "external" } ], "gene_names_uniprotkb": "CPNE8", "gene_names_refseq": "CPNE8", "protein_names_uniprotkb": "Copine-8; Copine VIII", "protein_names_refseq": "copine VIII; copine-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:144402); (R-HSA-9013148); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013409)", "pathway_count": 5, "publication_count": 278, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10967094;11007481;11058585;11085924;11149925;11185749;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11784792;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12242347;12351724;12432077;12456725;12464619;12531887;12547822;12577064;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15546864;15601624;15611138;15710388;15728722;15850391;15897194;16112081;16116428;16184169;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17525332;17599059;17702745;17765681;17804252;17916560;17932950;17976533;18045877;18056264;18218625;18363964;18426980;18653540;18669648;18786931;18835169;18838382;18929667;19258391;19605563;19713215;19934221;20068231;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22665057;22970203;22971344;23029280;23087206;23096567;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24102721;24259668;24297911;24335996;24352656;24355937;24366607;24584464;24714562;24933155;24996924;25024229;25211221;25576301;25678704;25704760;25721503;25746724;25795300;25862245;25880248;25963737;26129894;26299518;26529257;26598554;26728094;26887924;26992070;27096001;27145964;27216196;27397612;27481945;27555588;27600516;27798618;27846572;27852748;27862975;27920218;28028151;28196833;28218747;28486133;28514659;28825699;28832583;28834231;28860633;28904123;28947137;29242379;29557506;29776664;30061681;30315122;30410026;30779550;30833945;30853411;31154438;31217245;31222486;31530632;31844290;31848261;31871319;32157095;32161166;32203420;32302585;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33592498;33691108;33717175;33912179;33968037;34171305;34357683;34932366;35051231;35154160;35580925;35982908;36010968;36241641;36284347;37074911;37938771;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8945468;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9659915;9670022;9829970;9843499;9846874;9857026", "class_list": "", "function": "CPNE8 Promotes Gastric Cancer Metastasis by Modulating Focal Adhesion Pathway and Tumor Microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]., [RefSeq]; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2TB41;Q86VY2", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 28.4, "record_id": "Q86YQ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUH2-1", "uniprot_id": [ { "id": "CREG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUH2", "type": "external" } ], "mass": 32109.0, "length": 290, "protein_name": "Protein CREG2", "gene_name": "CREG2", "organism": "Human", "refseq_name": "protein CREG2 precursor", "refseq_ac": [ { "id": "NP_722578", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_722578", "type": "external" } ], "gene_names_uniprotkb": "CREG2", "gene_names_refseq": "CREG2", "protein_names_uniprotkb": "Protein CREG2; Cellular repressor of E1A-stimulated genes 2", "protein_names_refseq": "protein CREG2 precursor; protein CREG2", "tax_id": 9606, "disease": "", "pathway": " (hsa:200407)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "10.1074/mcp.M114.046862;12408961;25813380;27600516", "class_list": "", "function": "CREG2 are putative secreted glycoproteins and may be novel neuronal extracellular molecules., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q86X03;Q8N540;Q8N9E3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8IUH2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1L4-1", "uniprot_id": [ { "id": "CP4Z2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1L4", "type": "external" } ], "mass": 40159.0, "length": 340, "protein_name": "Putative inactive cytochrome P450 family member 4Z2", "gene_name": "CYP4Z2P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CYP4Z2P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative inactive cytochrome P450 family member 4Z2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "15059886;28411811", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q66ZJ5", "ec_number_list": [], "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0004497 monooxygenase activity;GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8N1L4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N688-1", "uniprot_id": [ { "id": "DB123_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N688", "type": "external" } ], "mass": 8105.0, "length": 67, "protein_name": "Beta-defensin 123", "gene_name": "DEFB123", "organism": "Human", "refseq_name": "beta-defensin 123 precursor", "refseq_ac": [ { "id": "NP_697019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_697019", "type": "external" } ], "gene_names_uniprotkb": "DEFB123; DEFB23; PRO4485", "gene_names_refseq": "DEFB-23; DEFB123; DEFB23; ESC42-RELD", "protein_names_uniprotkb": "Beta-defensin 123; Beta-defensin 23; DEFB-23; Defensin, beta 123", "protein_names_refseq": "beta defensin 23; beta-defensin 123 precursor; beta-defensin 123; specific to testis and epididymis", "tax_id": 9606, "disease": "", "pathway": " (hsa:245936); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 16, "publication_id_list": "10521347;10914484;11085990;11702237;11854508;11934878;12949495;12975309;15772680;18006661;18077418;20214904;20385753;20483750;21122132;9541493", "class_list": "", "function": "Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014]., [RefSeq]; Has antibacterial activity., [UniProtKB]; The protein encoded by this gene is thought to display antimicrobial activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5GRF8;Q5J5C7", "ec_number_list": [], "go_molecular_function": "GO:0140912 membrane destabilizing activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0031640 killing of cells of another organism", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8N688-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N690-1", "uniprot_id": [ { "id": "DB119_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N690", "type": "external" } ], "mass": 9822.0, "length": 84, "protein_name": "Beta-defensin 119", "gene_name": "DEFB119", "organism": "Human", "refseq_name": "beta-defensin 119 isoform d precursor", "refseq_ac": [ { "id": "NP_001258138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258138", "type": "external" } ], "gene_names_uniprotkb": "DEFB119; DEFB120; DEFB19; DEFB20; PRO5729", "gene_names_refseq": "DEFB-19; DEFB-20; DEFB119; DEFB120; DEFB20; ESC42-RELA; ESC42-RELB", "protein_names_uniprotkb": "Beta-defensin 119; Beta-defensin 120; Beta-defensin 19; Beta-defensin 20; DEFB-19; DEFB-20; Defensin, beta 119; Defensin, beta 120; ESC42-RELA", "protein_names_refseq": "beta-defensin 119 isoform d precursor; defensin, beta 120; defensin, beta 19; defensin, beta 20", "tax_id": 9606, "disease": "female reproductive system disease (Disease Ontology:DOID:229)", "pathway": " (hsa:245932); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 17, "publication_id_list": "10521347;10914484;11085990;11702237;11854508;11934878;12949495;12975309;15772680;18006661;20214904;20385753;20483750;21122132;31844290;36513070;9541493", "class_list": "", "function": "A couple of isoforms encoded by this gene are thought to display antimicrobial activity., [RefSeq, PubMed]; Beta-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility., [RefSeq, PubMed]; Has antibacterial activity., [UniProtKB]; This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5GRG1;Q5JWP1;Q5TH42;Q8N689", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8N690-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NES8-1", "uniprot_id": [ { "id": "DB124_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NES8", "type": "external" } ], "mass": 8058.0, "length": 71, "protein_name": "Beta-defensin 124", "gene_name": "DEFB124", "organism": "Human", "refseq_name": "beta-defensin 124 precursor", "refseq_ac": [ { "id": "NP_001032589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032589", "type": "external" } ], "gene_names_uniprotkb": "DEFB124; DEFB24", "gene_names_refseq": "DEFB-24; DEFB124", "protein_names_uniprotkb": "Beta-defensin 124; Beta-defensin 24; DEFB-24; Defensin, beta 124", "protein_names_refseq": "beta-defensin 124 precursor; beta-defensin 124; beta-defensin 24; defensin, beta 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:245937); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 15, "publication_id_list": "10521347;10914484;11085990;11702237;11854508;11934878;12949495;16033865;18006661;20214904;20385753;20483750;21122132;24955228;9541493", "class_list": "", "function": "Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014]., [RefSeq]; Has antibacterial activity., [UniProtKB]; The encoded protein is thought to display antimicrobial activity and may enhance innate immunity in the prostate., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q30E74", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0045087 innate immune response;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8NES8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHU0-1", "uniprot_id": [ { "id": "CT453_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHU0", "type": "external" } ], "mass": 21331.0, "length": 189, "protein_name": "Cancer/testis antigen family 45 member A3", "gene_name": "CT45A3", "organism": "Human", "refseq_name": "cancer/testis antigen family 45 member A3", "refseq_ac": [ { "id": "NP_001017435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017435", "type": "external" } ], "gene_names_uniprotkb": "CT45A3; CT45-3; CT45-4; CT45A4", "gene_names_refseq": "CT45-3; CT45-4; CT45.3; CT45.4; CT45A3; CT45A4", "protein_names_uniprotkb": "Cancer/testis antigen family 45 member A3; Cancer/testis antigen 45-3; Cancer/testis antigen 45-4; Cancer/testis antigen 45A3; Cancer/testis antigen 45A4; Cancer/testis antigen family 45 member A4", "protein_names_refseq": "cancer/testis antigen 45-3; cancer/testis antigen 45-4; cancer/testis antigen 45A3; cancer/testis antigen 45A4; cancer/testis antigen CT45-3; cancer/testis antigen family 45 member A3; cancer/testis antigen family 45 member A4", "tax_id": 9606, "disease": "", "pathway": " (hsa:441519)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "15905330;24190977;31222486;31429579;31848261", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RU20;B7ZMC9;D3DTG6;P0DMU6;Q8N7B7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NHU0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LM9-1", "uniprot_id": [ { "id": "CT173_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LM9", "type": "external" } ], "mass": 16552.0, "length": 149, "protein_name": "Uncharacterized protein C20orf173", "gene_name": "C20orf173", "organism": "Human", "refseq_name": "uncharacterized protein C20orf173 precursor", "refseq_ac": [ { "id": "NP_001138822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138822", "type": "external" } ], "gene_names_uniprotkb": "C20orf173", "gene_names_refseq": "C20orf173; dJ477O4.4", "protein_names_uniprotkb": "Uncharacterized protein C20orf173", "protein_names_refseq": "uncharacterized protein C20orf173 precursor; uncharacterized protein C20orf173", "tax_id": 9606, "disease": "", "pathway": " (hsa:140873)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6PVJ1;Q2M293;Q5JWS4;Q9H449", "ec_number_list": [], "go_molecular_function": "GO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity;GO:0008373 sialyltransferase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0097503 sialylation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q96LM9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N68-1", "uniprot_id": [ { "id": "CR015_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N68", "type": "external" } ], "mass": 19136.0, "length": 181, "protein_name": "Putative uncharacterized protein C18orf15", "gene_name": "C18orf15", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "C18orf15", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein C18orf15", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q96N68-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQM9-1", "uniprot_id": [ { "id": "CT144_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQM9", "type": "external" } ], "mass": 17214.0, "length": 153, "protein_name": "Uncharacterized protein C20orf144", "gene_name": "C20orf144", "organism": "Human", "refseq_name": "uncharacterized protein C20orf144", "refseq_ac": [ { "id": "NP_543015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543015", "type": "external" } ], "gene_names_uniprotkb": "C20orf144", "gene_names_refseq": "C20orf144; dJ63M2.6", "protein_names_uniprotkb": "Uncharacterized protein C20orf144; Bcl-2-like protein from testis; Bclt", "protein_names_refseq": "bcl-2-like protein from testis; bclt; uncharacterized protein C20orf144", "tax_id": 9606, "disease": "", "pathway": " (hsa:128864)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "19615748", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q1AHR2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9BQM9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSJ5-1", "uniprot_id": [ { "id": "CQ080_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSJ5", "type": "external" } ], "mass": 67315.0, "length": 609, "protein_name": "Mitochondrial nucleoid-associated protein 1", "gene_name": "MTNAP1", "organism": "Human", "refseq_name": "mitochondrial nucleoid-associated protein 1 isoform b", "refseq_ac": [ { "id": "NP_001094091", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094091", "type": "external" } ], "gene_names_uniprotkb": "MTNAP1; C17orf80; HLC8; MIG3", "gene_names_refseq": "C17orf80; HLC-8; MIG3; MTNAP1; SPEP1", "protein_names_uniprotkb": "Mitochondrial nucleoid-associated protein 1; Cell migration-inducing gene 3 protein; HLC-8; Human lung cancer oncogene 8 protein; Protein C17orf80", "protein_names_refseq": "cell migration-inducing gene 3 protein; human lung cancer oncogene 8 protein; lung cancer-related protein 8; mitochondrial nucleoid-associated protein 1 isoform b; sperm-expressed protein 1; uncharacterized protein C17orf80", "tax_id": 9606, "disease": "", "pathway": " (hsa:55028)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11230166;11237011;18691976;24715725;25576301;25880248;26154972;26992070;27846572;28904123;29557506;30429286;31217245;31844290;32157095;32357974;32938616;33141586;33298915;33592498;33912179;33936100;33981976;34087483;34171305;34185709;34211107;35051231;35561310;35580925;36241641;37401363;37676315", "class_list": "", "function": "C17orf80 binds the mitochondrial genome to promote its replication., [RefSeq, PubMed]; Critical regulator of mitochondrial DNA (mtDNA) abundance (PubMed:37676315). Binds dsDNA throughout the mitochondrial genome without sequence specificity and controls mtDNA copy number by promoting its replication (PubMed:37676315). Also plays important roles in mitochondrial metabolism and cell proliferation (PubMed:37676315)., [UniProtKB, PubMed]; Uncharacterized protein C17orf80 - a novel interactor of human mitochondrial nucleoids., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9X3;Q5JB45;Q6YAU3;Q9H0L9;Q9H5E6;Q9NWN5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0042645 mitochondrial nucleoid;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9BSJ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1C7-1", "uniprot_id": [ { "id": "CYTM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1C7", "type": "external" } ], "mass": 10631.0, "length": 97, "protein_name": "Cysteine-rich transmembrane module-containing protein 1", "gene_name": "CYSTM1", "organism": "Human", "refseq_name": "cysteine-rich transmembrane module-containing protein 1", "refseq_ac": [ { "id": "NP_115788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115788", "type": "external" } ], "gene_names_uniprotkb": "CYSTM1; C5orf32; ORF1-FL49", "gene_names_refseq": "C5orf32; CYSTM1; ORF1-FL49", "protein_names_uniprotkb": "Cysteine-rich transmembrane module-containing protein 1", "protein_names_refseq": "UPF0467 protein C5orf32; cysteine-rich and transmembrane domain-containing protein 1; cysteine-rich transmembrane module-containing protein 1; putative nuclear protein ORF1-FL49", "tax_id": 9606, "disease": "", "pathway": " (hsa:84418); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11237011;18707149;23650620;33912179;35051231;8692836", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8TBA5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0070821 tertiary granule membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9H1C7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1P6-1", "uniprot_id": [ { "id": "CMIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1P6", "type": "external" } ], "mass": 15719.0, "length": 137, "protein_name": "Ciliary microtubule inner protein 1", "gene_name": "CIMIP1", "organism": "Human", "refseq_name": "ciliary microtubule inner protein 1", "refseq_ac": [ { "id": "NP_848551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848551", "type": "external" } ], "gene_names_uniprotkb": "CIMIP1; C20orf85; LLC1", "gene_names_refseq": "C20orf85; CIMIP1; LLC1; bA196N14.1", "protein_names_uniprotkb": "Ciliary microtubule inner protein 1", "protein_names_refseq": "ciliary microtubule inner protein 1; low in lung cancer 1; uncharacterized protein C20orf85", "tax_id": 9606, "disease": "", "pathway": " (hsa:128602)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "17304513;25786037;35051231", "class_list": "", "function": "Inactivation of LLC1 by means of promoter methylation is a frequent event in nonsmall cell lung cancer and may play a role in lung tumorigenesis., [RefSeq, PubMed]; Our findings suggest that LLC1 is not a tumor suppressor, and that it is localized in the cilia of the normal lung epithelium but is absent in most non-small cell lung cancer cases, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9H1P6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P013-1", "uniprot_id": [ { "id": "CWC15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P013", "type": "external" } ], "mass": 26624.0, "length": 229, "protein_name": "Spliceosome-associated protein CWC15 homolog", "gene_name": "CWC15", "organism": "Human", "refseq_name": "spliceosome-associated protein CWC15 homolog", "refseq_ac": [ { "id": "NP_057487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057487", "type": "external" } ], "gene_names_uniprotkb": "CWC15; AD-002; C11orf5; HSPC148", "gene_names_refseq": "AD002; C11orf5; CWC15; Cwf15; HSPC148; ORF5", "protein_names_uniprotkb": "Spliceosome-associated protein CWC15 homolog", "protein_names_refseq": "CWC15 spliceosome associated protein homolog; spliceosome-associated protein CWC15 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:51503); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "10.1101/2023.09.13.557529;10873569;10882114;10931946;11014198;11101529;11233976;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;16314458;16809785;17081983;17095540;17332742;17606899;18077418;18322460;18452278;18593880;18669648;18691976;19103666;19165350;19536130;20176811;20423332;20980672;21536652;2176635;21911577;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;24196718;24275569;24304693;24448447;24737827;24914973;25418920;25555158;25576301;2558966;26092250;26375851;26385511;26420826;26811146;26929215;26969736;26992070;27108190;27377154;27459055;27600516;27683217;27846572;27920218;28062851;28076346;28228285;28502770;28781166;28904123;29301961;29360106;29361316;29393594;29485866;29557506;29632046;2963332;29902443;30315277;30379171;30599162;30705154;30728453;30765414;30975767;31217245;31373491;31409651;31530632;31844290;31998317;32179686;32265295;32329775;32357974;32387766;32494006;32938616;33177556;33243851;33298915;33446560;33509932;33968037;34019948;34301950;34405274;34509645;34822310;35051231;35215846;35318648;35385551;35580925;36010968;36215666;36284347;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28076346, PubMed:28502770). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RC17;Q05BV9;Q05DM1;Q9UI29", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0045292 mRNA cis splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "Q9P013-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12259-1", "uniprot_id": [ { "id": "FA5_HUMAN", "url": "https://www.uniprot.org/uniprot/P12259", "type": "external" } ], "mass": 251703.0, "length": 2224, "protein_name": "Coagulation factor V", "gene_name": "F5", "organism": "Human", "refseq_name": "coagulation factor V preproprotein", "refseq_ac": [ { "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121", "type": "external" } ], "gene_names_uniprotkb": "F5", "gene_names_refseq": "F5; FVL; PCCF; RPRGL1; THPH2; fV", "protein_names_uniprotkb": "Coagulation factor V; Activated protein C cofactor; Proaccelerin, labile factor", "protein_names_refseq": "activated protein c cofactor; coagulation factor V (proaccelerin, labile factor); coagulation factor V jinjiang A2 domain; coagulation factor V preproprotein; factor V Leiden", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); non-arteritic anterior ischemic optic neuropathy (Disease Ontology:DOID:0050864); thrombosis (Disease Ontology:DOID:0060903); thrombophilia due to activated protein C resistance (Disease Ontology:DOID:0111902); sensorineural hearing loss (Disease Ontology:DOID:10003); osteonecrosis (Disease Ontology:DOID:10159); pre-eclampsia (Disease Ontology:DOID:10591); portal hypertension (Disease Ontology:DOID:10762); Budd-Chiari syndrome (Disease Ontology:DOID:11512); Behcet's disease (Disease Ontology:DOID:13241); breast cancer (Disease Ontology:DOID:1612); retinal vein occlusion (Disease Ontology:DOID:1727); factor V deficiency (Disease Ontology:DOID:2216); hepatitis (Disease Ontology:DOID:2237); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); cerebral infarction (Disease Ontology:DOID:3526); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); retinal artery occlusion (Disease Ontology:DOID:8483); pulmonary embolism (Disease Ontology:DOID:9477); hypereosinophilic syndrome (Disease Ontology:DOID:999); pregnancy loss, recurrent, susceptibility to, 1 (MONDO:MONDO:0013727)", "pathway": " (hsa:2153); (R-HSA-114608); (R-HSA-204005); (R-HSA-381426); (R-HSA-5694530); (R-HSA-8957275); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9769743); (R-HSA-9930449); (R-HSA-9930479)", "pathway_count": 11, "publication_count": 334, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026136;10026158;10077652;10218588;10391209;10445031;10471296;10512690;10521265;10559958;10559959;10586886;10614670;10652252;10679020;10681634;10747087;10788476;10810289;10825291;10898936;10903204;10912521;10942390;10951195;10982397;10990447;11018168;11035026;11035113;11158056;11237011;11238108;11250653;11264294;11285137;11306556;11316783;11342438;11435304;11522292;11606061;11739083;11751371;11758222;11788658;11833835;11858490;11927603;12052963;12070132;12235121;12237308;12241545;12379487;12393490;12466191;12624624;12810533;12904166;12907439;1370451;1383255;1435334;14617013;14630798;14695241;14982929;15037235;15126567;15140131;15297306;15308688;15469690;15485880;15525596;15534175;15642270;1567832;16129679;16161994;1618828;16263699;16303754;16335952;16495487;16619025;16624868;16912714;16959974;17005010;17010120;17038314;17047378;17192411;17249697;17287728;17312271;17316621;17499046;17506785;17562788;17598008;17607000;17635713;17684057;17985932;18025080;18088087;18283111;18287528;18491316;1874730;18843296;1902833;19164740;19265014;19269366;19297154;1930190;19566487;19638414;19656848;19690332;19824718;20004170;20058876;2019570;2040636;20427285;20427317;20477988;20533886;20545907;20679433;20805473;20966969;2104832;2110473;21107324;21478858;21525241;21532587;2168225;21689688;21878990;21932952;22013193;22144186;22157747;2248955;22618708;22652793;22675024;2271516;22786881;22961984;23006890;23021219;23090970;23378591;23479643;23481700;23584533;23621622;23640497;23683607;23698585;2384594;23852824;23864707;24119662;24190977;24554904;24715725;2476804;2479552;24917561;2502206;2505252;25202031;2538457;25406594;25492864;25586378;25619252;25619253;25713144;25813380;25855704;26091039;26473492;26758079;26992070;2704749;271951;27862975;28035807;2827731;2844223;28514659;28832583;29223926;29242379;29314611;29351928;29391424;29419409;29437578;29493099;29508533;29557506;29632711;29671580;29741879;3017409;30459171;3052293;3082357;30918026;3092220;31003762;3110773;31154438;31262782;3129422;3134349;31439947;31530632;31848261;32157095;32310329;32502341;3275472;32983136;33141586;33412295;33912179;33936100;33968037;34171305;34357683;35051231;35154160;3524673;3527261;35580925;36951953;37074911;3733688;3744129;37639740;37726033;37925034;38112128;38225166;38237698;38382738;3863104;38950780;40596516;6323392;6334516;6438527;6457647;6490642;6980899;7499257;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;7727775;7756647;7874144;7989361;8144529;8148489;8164741;8204629;8221884;8338946;8454869;8467233;8578528;8598903;8606061;8620540;8626656;8639673;8639781;8663406;8665956;8713778;8781553;8817670;8894645;8964575;9094723;9150144;9177194;9218519;9245936;9307973;9395526;9454741;9454742;9459334;9469622;9472029;9497324;9525959;9556620;9576178;9607108;9647643;9709957;9733769;9746807;9774404;9786878;9834200;9888880;9922210", "class_list": "", "function": "A novel factor V compound heterozygous mutation associated with thrombosis (Y1961C; FV-Kanazawa, together with 1982_1983del)., [RefSeq, PubMed]; Autoimmune-acquired coagulation factor V deficiency with hyperfibrinolytic disseminated intravascular coagulation., [RefSeq, PubMed]; Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin., [UniProtKB, UniProtKB, UniProtKB]; Coagulation factor V in breast cancer: a p53-regulated tumor suppressor and predictive marker for treatment response to chemotherapy., [RefSeq, PubMed]; Determination of vWF, ADAMTS-13 and Thrombospondin-1 in Venous Thromboembolism and Relating Them to the Presence of Factor V Leiden Mutation., [RefSeq, PubMed]; Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*)., [RefSeq, PubMed]; This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 11, "predicted_n_glycosites": 11, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 15, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 17, "reported_o_glycosites_with_glycan": 64, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 18, "total_reported_o_glycosites": 64, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 19, "total_o_glycosites": 64, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 10, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 216, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 80, "disease_count": 24, "glyco_site_count": 94, "binding_glycan_count": 0, "secondary_ac_list": "A8K6E8;Q14285;Q2EHR5;Q5R346;Q5R347;Q6UPU6;Q8WWQ6", "ec_number_list": [], "go_molecular_function": "GO:0005507 copper ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007596 blood coagulation;GO:0008015 blood circulation;GO:0032571 response to vitamin K", "synthesized_glycan_count": 0, "hit_score": 49.7, "record_id": "P12259-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVZ2-1", "uniprot_id": [ { "id": "F240B_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVZ2", "type": "external" } ], "mass": 9744.0, "length": 78, "protein_name": "Protein FAM240B", "gene_name": "FAM240B", "organism": "Human", "refseq_name": "protein FAM240B", "refseq_ac": [ { "id": "NP_001373740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001373740", "type": "external" } ], "gene_names_uniprotkb": "FAM240B", "gene_names_refseq": "FAM240B", "protein_names_uniprotkb": "Protein FAM240B", "protein_names_refseq": "protein FAM240B", "tax_id": 9606, "disease": "", "pathway": " (hsa:110806297)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1B0GVZ2-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDY2-1", "uniprot_id": [ { "id": "F90AA_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDY2", "type": "external" } ], "mass": 49635.0, "length": 464, "protein_name": "Protein FAM90A10", "gene_name": "FAM90A10", "organism": "Human", "refseq_name": "protein FAM90A10", "refseq_ac": [ { "id": "NP_001157919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157919", "type": "external" } ], "gene_names_uniprotkb": "FAM90A10; FAM90A10P", "gene_names_refseq": "FAM90A10P; FAM90A10", "protein_names_uniprotkb": "Protein FAM90A10", "protein_names_refseq": "family with sequence similarity 90 member A10, pseudogene; protein FAM90A10; putative protein FAM90A10P; putative protein FAM90A10", "tax_id": 9606, "disease": "", "pathway": " (hsa:441328)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "FAM90A10 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NDY2-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJQ4-1", "uniprot_id": [ { "id": "F90A8_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJQ4", "type": "external" } ], "mass": 49661.0, "length": 464, "protein_name": "Protein FAM90A8", "gene_name": "FAM90A8", "organism": "Human", "refseq_name": "protein FAM90A8", "refseq_ac": [ { "id": "NP_001157922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157922", "type": "external" } ], "gene_names_uniprotkb": "FAM90A8; FAM90A8P", "gene_names_refseq": "FAM90A8P; FAM90A8", "protein_names_uniprotkb": "Protein FAM90A8", "protein_names_refseq": "family with sequence similarity 90 member A8, pseudogene; protein FAM90A8; putative protein FAM90A8P; putative protein FAM90A8", "tax_id": 9606, "disease": "", "pathway": " (hsa:441324)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "FAM90A8 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NJQ4-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NNH2-1", "uniprot_id": [ { "id": "F90AR_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NNH2", "type": "external" } ], "mass": 49646.0, "length": 459, "protein_name": "Protein FAM90A27P", "gene_name": "FAM90A27P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM90A27P", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein FAM90A27P", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "11237011;32938616;33981976", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NNH2-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MWA6-1", "uniprot_id": [ { "id": "F90AM_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MWA6", "type": "external" } ], "mass": 49874.0, "length": 464, "protein_name": "Protein FAM90A22", "gene_name": "FAM90A22", "organism": "Human", "refseq_name": "protein FAM90A22", "refseq_ac": [ { "id": "NP_001384311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001384311", "type": "external" } ], "gene_names_uniprotkb": "FAM90A22; FAM90A22P", "gene_names_refseq": "FAM90A22P; FAM90A22", "protein_names_uniprotkb": "Protein FAM90A22", "protein_names_refseq": "family with sequence similarity 90 member A22, pseudogene; protein FAM90A22; putative protein FAM90A22P; putative protein FAM90A8P", "tax_id": 9606, "disease": "", "pathway": " (hsa:645558)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A8MWA6-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MZ36-1", "uniprot_id": [ { "id": "EVPLL_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MZ36", "type": "external" } ], "mass": 33953.0, "length": 301, "protein_name": "Envoplakin-like protein", "gene_name": "EVPLL", "organism": "Human", "refseq_name": "envoplakin-like protein", "refseq_ac": [ { "id": "NP_001138599", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138599", "type": "external" } ], "gene_names_uniprotkb": "EVPLL", "gene_names_refseq": "EVPLL", "protein_names_uniprotkb": "Envoplakin-like protein", "protein_names_refseq": "envoplakin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:645027)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "32387766", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DPD4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0045104 intermediate filament cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8MZ36-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2NKX8-1", "uniprot_id": [ { "id": "ERC6L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2NKX8", "type": "external" } ], "mass": 141103.0, "length": 1250, "protein_name": "DNA excision repair protein ERCC-6-like", "gene_name": "ERCC6L", "organism": "Human", "refseq_name": "DNA excision repair protein ERCC-6-like isoform a", "refseq_ac": [ { "id": "NP_060139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060139", "type": "external" } ], "gene_names_uniprotkb": "ERCC6L; PICH", "gene_names_refseq": "ERCC6L; PICH; RAD26L", "protein_names_uniprotkb": "DNA excision repair protein ERCC-6-like; 3.6.4.12; ATP-dependent helicase ERCC6-like; PLK1-interacting checkpoint helicase; Tumor antigen BJ-HCC-15", "protein_names_refseq": "ATP-dependent helicase ERCC6-like; DNA excision repair protein ERCC-6-like isoform a; DNA excision repair protein ERCC-6-like; Plk1-interacting checkpoint helicase; SNF2/RAD54 family protein; excision repair cross-complementation group 6 like; excision repair cross-complementing rodent repair deficiency complementation group 6 - like; excision repair cross-complementing rodent repair deficiency, complementation group 6-like; excision repair protein ERCC6-like; tumor antigen BJ-HCC-15", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:54821); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 8, "publication_count": 158, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15507212;15723797;15737063;15864301;15866170;15917148;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;17218258;1737036;17599064;17671160;17956945;17989990;18001770;18097444;18452278;18669648;18691976;18716626;18923426;19350017;19413330;19651622;19664994;19690332;19691289;19696148;19815554;19904549;19965387;20030946;20068231;20101212;20591975;21111234;21148482;21397845;21406692;21576392;21868368;21878504;21987589;22094460;22275430;22544926;22608513;22790947;22885700;23186163;23222643;23301498;23481700;23801653;23973328;24715725;24914801;25505266;25576301;25645385;25740311;25789526;26154972;26375851;26992070;27230136;27565185;27846572;28218747;28832583;28904123;28977671;29242379;29393594;29437277;29493099;29557506;29632046;29786170;30379171;30410026;30484775;30524438;31409757;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34211107;34260926;34357683;34405274;34509645;35051231;35251023;35561310;35656882;36010968;36215666;36241641;36284347;36550435;37667329;9649308;9649503;9892021", "class_list": "", "function": "A novel SUMO-dependent regulation of PICH's function on mitotic centromeres, is reported., [RefSeq, PubMed]; A pan-cancer analysis of the oncogenic role of ERCC6L. Publication Status: Online-Only, [RefSeq, PubMed]; DNA helicase that acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase (PubMed:17218258, PubMed:23973328). Functions as ATP-dependent DNA translocase (PubMed:23973328, PubMed:28977671). Can promote Holliday junction branch migration (in vitro) (PubMed:23973328)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; ERCC6L facilitates the onset of mammary neoplasia and promotes the high malignance of breast cancer by accelerating the cell cycle. Publication Status: Online-Only, [RefSeq, PubMed]; Functional characterization of the mouse Ercc6l ortholog., [RefSeq, PubMed]; Overexpression of ERCC6L correlates with poor prognosis and confers malignant phenotypes of lung adenocarcinoma., [RefSeq, PubMed]; The mitotic roles of PICH and explore further the role of PICH in the timely segregation of the ribosomal DNA locus, are reported., [RefSeq, PubMed]; These data identify PICH as a novel essential component of checkpoint signaling., [RefSeq, PubMed]; This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 40, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NCI1;Q96H93;Q9NXQ8", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.22.49", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.49", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003678 DNA helicase activity;GO:0015616 DNA translocase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0000776 kinetochore", "go_biological_process": "GO:0006281 DNA repair;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "Q2NKX8-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0Q0-1", "uniprot_id": [ { "id": "CYRIA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0Q0", "type": "external" } ], "mass": 37313.0, "length": 323, "protein_name": "CYFIP-related Rac1 interactor A", "gene_name": "CYRIA", "organism": "Human", "refseq_name": "CYFIP-related Rac1 interactor A", "refseq_ac": [ { "id": "NP_110424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110424", "type": "external" } ], "gene_names_uniprotkb": "CYRIA; FAM49A", "gene_names_refseq": "CYRI-A; CYRIA; FAM49A", "protein_names_uniprotkb": "CYFIP-related Rac1 interactor A; Protein CYRIA", "protein_names_refseq": "CYFIP-related Rac1 interactor A; family with sequence similarity 49 member A; protein FAM49A", "tax_id": 9606, "disease": "", "pathway": " (hsa:81553)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11230166;11237011;22424782;27846572;27862975;28514659;29393594;29557506;29632046;29769354;29786170;29949196;30250061;30779550;31154438;31217245;31844290;31848261;32357974;32387766;32938616;32983136;33936100;33981976;34165494;35051231;35580925;36010968;36284347;40914422", "class_list": "", "function": "CYRI-A limits invasive migration through macropinosome formation and integrin uptake regulation., [RefSeq, PubMed]; Confirmed that three genes (rs7922405 of MGMT, rs73039426 of RHPN2, and rs7552 of FAM49A) may contribute to nonsyndromic orofacial clefts in Chinese populations, [RefSeq, PubMed]; May negatively regulate RAC1 signaling and RAC1-driven cytoskeletal remodeling (Probable). May regulate chemotaxis, cell migration and epithelial polarization by controlling the polarity, plasticity, duration and extent of protrusions (Probable)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KNZ1;Q53QW2", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0030833 regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9H0Q0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99645-1", "uniprot_id": [ { "id": "EPYC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99645", "type": "external" } ], "mass": 36637.0, "length": 322, "protein_name": "Epiphycan", "gene_name": "EPYC", "organism": "Human", "refseq_name": "epiphycan precursor", "refseq_ac": [ { "id": "NP_004941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004941", "type": "external" } ], "gene_names_uniprotkb": "EPYC; DSPG3; PGLB; SLRR3B", "gene_names_refseq": "DSPG3; EPYC; PGLB; Pg-Lb; SLRR3B", "protein_names_uniprotkb": "Epiphycan; Dermatan sulfate proteoglycan 3; PG-Lb; Proteoglycan-Lb; Small chondroitin/dermatan sulfate proteoglycan", "protein_names_refseq": "dermatan sulfate proteoglycan 3; epiphycan precursor; epiphycan proteoglycan; proteoglycan-lb; small chondroitin/dermatan sulfate proteoglycan", "tax_id": 9606, "disease": "", "pathway": " (hsa:1833)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;16902402;17558846;19616852;20357198;33592498;35902862;38184732;38253038;8975717", "class_list": "glycogene", "function": "Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008]., [RefSeq]; EPYC functions as a novel prognostic biomarker for pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis., [RefSeq, PubMed]; KLF9 and EPYC acting as feature genes for osteoarthritis and their association with immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Linkage and haplotype analyses identified 12q21.33 as a locus for posterior amorphous corneal dystrophy. However, no mutations were identified in the candidate genes (KERA, LUM, DCN, EPYC) within this region., [RefSeq, PubMed]; May have a role in bone formation and also in establishing the ordered structure of cartilage through matrix organization., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 467, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K3M7;Q8NEJ5", "ec_number_list": [], "go_molecular_function": "GO:0005539 glycosaminoglycan binding", "go_cellular_component": "GO:0031012 extracellular matrix;GO:0140150 gel phase of interstitial matrix", "go_biological_process": "GO:0007565 female pregnancy;GO:0060348 bone development;GO:0061975 articular cartilage development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q99645-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H3BQW9-1", "uniprot_id": [ { "id": "F229A_HUMAN", "url": "https://www.uniprot.org/uniprot/H3BQW9", "type": "external" } ], "mass": 12972.0, "length": 127, "protein_name": "Protein FAM229A", "gene_name": "FAM229A", "organism": "Human", "refseq_name": "protein FAM229A", "refseq_ac": [ { "id": "NP_001161148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161148", "type": "external" } ], "gene_names_uniprotkb": "FAM229A", "gene_names_refseq": "FAM229A", "protein_names_uniprotkb": "Protein FAM229A", "protein_names_refseq": "protein FAM229A", "tax_id": 9606, "disease": "", "pathway": " (hsa:100128071)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "H3BQW9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16394-1", "uniprot_id": [ { "id": "EXT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16394", "type": "external" } ], "mass": 86255.0, "length": 746, "protein_name": "Exostosin-1", "gene_name": "EXT1", "organism": "Human", "refseq_name": "exostosin-1", "refseq_ac": [ { "id": "NP_000118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000118", "type": "external" } ], "gene_names_uniprotkb": "EXT1", "gene_names_refseq": "EXT1; EXT; LGCR; LGS; TRPS2; TTV", "protein_names_uniprotkb": "Exostosin-1; 2.4.1.225; Exostosin glycosyltransferase 1; Heparan sulfate co-polymerase subunit EXT1; Multiple exostoses protein 1; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase", "protein_names_refseq": "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase; Langer-Giedion syndrome chromosome region; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; exostoses (multiple) 1; exostosin-1; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N- acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; heparan sulfate co-polymerase subunit EXT1; multiple exostoses protein 1; putative tumor suppressor protein EXT1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); hereditary multiple exostoses (Disease Ontology:DOID:206); germ cell cancer (Disease Ontology:DOID:2994); chondrosarcoma (Disease Ontology:DOID:3371); trichorhinophalangeal syndrome type II (Disease Ontology:DOID:4998); hereditary multiple osteochondromas (MONDO:MONDO:0005508)", "pathway": " (hsa:2131); (R-HSA-2022928); (R-HSA-3656237); (R-HSA-3656253)", "pathway_count": 4, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;10318803;10441575;10480354;10639137;10644753;10677367;10679296;10716625;11087757;11169766;11237011;11274177;11279150;11390981;11391482;12138164;12492399;15082721;15253765;15607426;16343444;19344451;20554947;21700882;22660413;23090970;24190977;25892735;26768311;28132690;28148688;29393594;29769354;30429286;30471091;30806661;32157095;32350084;32357974;32938616;32983136;33159882;33968037;34357683;35051231;35154160;35676258;36010968;36402845;36593275;38215181;38665916;39336760;6496574;7550340;7601448;7711731;8782816;8894688;8981950;9119404;9326317;9346953;9463333;9521425;9535912;9620772;9915799;9988767", "class_list": "glycogene;glycosyltransferase", "function": "A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas. Publication Status: Online-Only, [RefSeq, PubMed]; Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone (PubMed:10639137, PubMed:22660413, PubMed:36402845, PubMed:36593275, PubMed:9620772). Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity within the complex while EXT2 carries the glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (PubMed:36402845, PubMed:36593275). Heparan sulfate proteoglycans are ubiquitous components of the extracellular matrix and play an important role in tissue homeostasis and signaling (PubMed:10639137, PubMed:11391482, PubMed:22660413, PubMed:9620772)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The exostosin glycosyltransferase 1/STAT3 axis is a driver of breast cancer aggressiveness., [RefSeq, PubMed]; This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 1601, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R7V2;Q9BVI9", "ec_number_list": [ { "id": "2.4.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.225", "type": "external" }, { "id": "2.4.1.224", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.224", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity;GO:0008375 acetylglucosaminyltransferase activity;GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:1902494 catalytic complex", "go_biological_process": "GO:0000271 polysaccharide biosynthetic process;GO:0001503 ossification;GO:0006024 glycosaminoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q16394-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00748-1", "uniprot_id": [ { "id": "EST2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00748", "type": "external" } ], "mass": 61807.0, "length": 559, "protein_name": "Cocaine esterase", "gene_name": "CES2", "organism": "Human", "refseq_name": "cocaine esterase isoform 1 precursor", "refseq_ac": [ { "id": "NP_001352334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001352334", "type": "external" } ], "gene_names_uniprotkb": "CES2; ICE", "gene_names_refseq": "CE-2; CES2A1; CES2; PCE-2; iCE", "protein_names_uniprotkb": "Cocaine esterase; 3.1.1.1; 3.1.1.56; 3.1.1.84; CE-2; Carboxylesterase 2; Methylumbelliferyl-acetate deacetylase 2; hCE-2", "protein_names_refseq": "carboxylesterase 2 (intestine, liver); cocaine esterase isoform 1 precursor; cocaine esterase; intestinal carboxylesterase; liver carboxylesterase-2; methylumbelliferyl-acetate deacetylase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8824); (R-HSA-211945); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "10220572;10434065;10445380;10945627;11154734;11237011;11422004;11581266;12616642;12721789;12725862;12732646;1351198;13741103;15350128;15492766;15523003;15535985;15618752;16258079;16614850;16765324;16837570;16858120;16943252;17400359;17482904;1783992;18254726;18256025;18285471;19053771;19159218;19588076;19764817;19836360;20007405;20177059;20422440;20542992;21049984;22446793;22674043;22700792;22813719;23616950;23953689;24423752;24677340;24900196;25144769;25425164;25446851;25576301;25840124;25923589;27862975;28677105;2897122;29393594;29557506;29632711;29789417;31844290;32152082;32171872;32187464;32205870;32210741;32387766;32779042;32938616;33291124;3342084;35580925;35790245;36113774;3705620;39894887;5013373;5773090;5862532;6777177;6838677;7206363;7802672;7980644;8985016;9144407;9169443;931988;9367528;9653080;975718", "class_list": "glycogene", "function": "Carboxylesterase 2 induces mitochondrial dysfunction via disrupting lipid homeostasis in oral squamous cell carcinoma., [RefSeq, PubMed]; Discovery of hCES2A inhibitors from Glycyrrhiza inflata via combination of docking-based virtual screening and fluorescence-based inhibition assays., [RefSeq, PubMed]; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs (PubMed:9169443). Shows high catalytic efficiency for hydrolysis of cocaine, 4-methylumbelliferyl acetate, heroin and 6-monoacetylmorphine (PubMed:9169443). Hydrolyzes aspirin, substrates with large alcohol group and small acyl group and endogenous lipids such as triacylglycerol (PubMed:28677105). Converts monoacylglycerides to free fatty acids and glycerol. Hydrolyzes of 2-arachidonoylglycerol and prostaglandins (PubMed:21049984)., [UniProtKB, PubMed, PubMed, PubMed]; LncRNA KCNQ1OT1 ameliorates the liver injury induced by acetaminophen through the regulation of miR-122-5p/CES2 axis., [RefSeq, PubMed]; The COVID-19 Oral Drug Molnupiravir Is a CES2 Substrate: Potential Drug-Drug Interactions and Impact of CES2 Genetic Polymorphism In Vitro., [RefSeq, PubMed]; This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 630, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R6X1;A8K367;Q16859;Q5MAB8;Q7Z366;Q8IUP4;Q8TCP8", "ec_number_list": [ { "id": "3.5.1.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.99", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.1", "type": "external" }, { "id": "3.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.56", "type": "external" }, { "id": "3.1.1.84", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.84", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.3.2.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.9", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.1.2.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.12", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" } ], "go_molecular_function": "GO:0047374 methylumbelliferyl-acetate deacetylase activity;GO:0052689 carboxylic ester hydrolase activity;GO:0050253 retinyl-palmitate esterase activity;GO:0106435 carboxylesterase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0006693 prostaglandin metabolic process;GO:0098754 detoxification;GO:0050784 cocaine catabolic process;GO:0071273 morphine catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O00748-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43731-1", "uniprot_id": [ { "id": "ERD23_HUMAN", "url": "https://www.uniprot.org/uniprot/O43731", "type": "external" } ], "mass": 25027.0, "length": 214, "protein_name": "ER lumen protein-retaining receptor 3", "gene_name": "KDELR3", "organism": "Human", "refseq_name": "ER lumen protein-retaining receptor 3 isoform a", "refseq_ac": [ { "id": "NP_006846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006846", "type": "external" } ], "gene_names_uniprotkb": "KDELR3; ERD23", "gene_names_refseq": "ERD23; ERD2L3; KDELR3", "protein_names_uniprotkb": "ER lumen protein-retaining receptor 3; KDEL endoplasmic reticulum protein retention receptor 3; KDEL receptor 3", "protein_names_refseq": "ER lumen protein-retaining receptor 3 isoform a; ER lumen protein-retaining receptor 3; KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3; KDEL receptor 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:11015); (R-HSA-381038); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 4, "publication_count": 149, "publication_id_list": "10052452;10318838;10445031;10559959;10601334;10679020;10761932;10827079;10903204;10921873;11035033;11172815;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12204115;12388752;12634853;14504276;14654841;14742712;15029241;15037235;15272311;15466936;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16461360;16539657;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18086916;18182008;18283113;18287528;18524849;18664523;18809720;1898986;19015319;19109418;19151722;19164740;19296914;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21282569;21550981;21689688;21844168;22013193;22094269;22304919;23396477;23839779;24119662;24715725;24806965;25364732;25436559;25492864;25576301;25645385;25892735;29242379;29789417;30315122;31154438;31844290;32157095;32357974;32387766;32488085;32645101;32938616;33592498;33968037;34078123;34185709;34405274;35051231;35580925;7590364;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8666242;8991093;9037597;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9450183;9473480;9490716;9671725;9751720;9990005", "class_list": "", "function": "Cell-type-specific differences in KDEL receptor clustering in mammalian cells. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum., [UniProtKB, PubMed]; This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7T7;B8ZZ26;O95557;Q4V750;Q4V767;Q53FP4;Q53GK1", "ec_number_list": [], "go_molecular_function": "GO:0005046 KDEL sequence binding;GO:0046923 ER retention sequence binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0030133 transport vesicle;GO:0005801 cis-Golgi network", "go_biological_process": "GO:0015031 protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006621 protein retention in ER lumen", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "O43731-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94919-1", "uniprot_id": [ { "id": "ENDD1_HUMAN", "url": "https://www.uniprot.org/uniprot/O94919", "type": "external" } ], "mass": 55017.0, "length": 500, "protein_name": "Endonuclease domain-containing 1 protein", "gene_name": "ENDOD1", "organism": "Human", "refseq_name": "endonuclease domain-containing 1 protein precursor", "refseq_ac": [ { "id": "NP_055851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055851", "type": "external" } ], "gene_names_uniprotkb": "ENDOD1; KIAA0830", "gene_names_refseq": "ENDOD1", "protein_names_uniprotkb": "Endonuclease domain-containing 1 protein; 3.1.30.-", "protein_names_refseq": "endonuclease domain-containing 1 protein precursor; endonuclease domain-containing 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23052); (R-HSA-114608)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11921445;1435334;14630798;15297306;18578522;19608861;23481700;23640497;25418920;25502872;25645385;26154972;26811146;27543614;27862975;27920218;28063628;28411811;28532481;28649982;28904123;29242379;29393594;29557506;29632046;30315122;30429286;30779550;31154438;31217245;31844290;31848261;32157095;32265295;32350084;32387766;32488085;32614325;33592498;33717175;33968037;33981976;34171305;34357683;35051231;35251023;35318648;35580925;36284347;37938771;40307207;6457647;8467233", "class_list": "", "function": "May act as a DNase and a RNase. Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26., [UniProtKB, PubMed]; Overexpression of ENDOD1 suppressed cell proliferation, induced G0/G1 cell cycle arrest and inhibited cell migration and invasion. Erratum:[BMC Cancer. 2017 Aug 24;17(1):569. doi: 10.1186/s12885-017-3517-9. PMID: 28836942] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K6K8;Q6GQY5;Q8TAQ8", "ec_number_list": [ { "id": "3.1.30.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.30.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.15.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.15.1.1", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0016787 hydrolase activity;GO:0046872 metal ion binding;GO:0003676 nucleic acid binding;GO:0004519 endonuclease activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O94919-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7V4-1", "uniprot_id": [ { "id": "F90AF_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7V4", "type": "external" } ], "mass": 49895.0, "length": 464, "protein_name": "Protein FAM90A15", "gene_name": "FAM90A15", "organism": "Human", "refseq_name": "protein FAM90A15", "refseq_ac": [ { "id": "NP_001410467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001410467", "type": "external" } ], "gene_names_uniprotkb": "FAM90A15; FAM90A15P", "gene_names_refseq": "FAM90A15P; FAM90A15", "protein_names_uniprotkb": "Protein FAM90A15", "protein_names_refseq": "family with sequence similarity 90 member A15, pseudogene; protein FAM90A15; putative protein FAM90A15P; putative protein FAM90A15", "tax_id": 9606, "disease": "", "pathway": " (hsa:389630)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "17684299;30524438", "class_list": "", "function": "FAM90A15 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0C7V4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7W9-1", "uniprot_id": [ { "id": "F90AE_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7W9", "type": "external" } ], "mass": 49953.0, "length": 464, "protein_name": "Protein FAM90A14", "gene_name": "FAM90A14", "organism": "Human", "refseq_name": "protein FAM90A14", "refseq_ac": [ { "id": "NP_001157924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157924", "type": "external" } ], "gene_names_uniprotkb": "FAM90A14; FAM90A14P", "gene_names_refseq": "FAM90A14P; FAM90A14", "protein_names_uniprotkb": "Protein FAM90A14", "protein_names_refseq": "family with sequence similarity 90 member A14, pseudogene; protein FAM90A14; putative protein FAM90A14P; putative protein FAM90A14", "tax_id": 9606, "disease": "", "pathway": " (hsa:645651)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "FAM90A14 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0C7W9-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24390-1", "uniprot_id": [ { "id": "ERD21_HUMAN", "url": "https://www.uniprot.org/uniprot/P24390", "type": "external" } ], "mass": 24542.0, "length": 212, "protein_name": "ER lumen protein-retaining receptor 1", "gene_name": "KDELR1", "organism": "Human", "refseq_name": "ER lumen protein-retaining receptor 1", "refseq_ac": [ { "id": "NP_006792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006792", "type": "external" } ], "gene_names_uniprotkb": "KDELR1; ERD2.1", "gene_names_refseq": "ERD2.1; ERD2; HDEL; KDELR1; PM23", "protein_names_uniprotkb": "ER lumen protein-retaining receptor 1; KDEL endoplasmic reticulum protein retention receptor 1; KDEL receptor 1; Putative MAPK-activating protein PM23", "protein_names_refseq": "ER lumen protein-retaining receptor 1; KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1; KDEL receptor 1; putative MAPK-activating protein PM23", "tax_id": 9606, "disease": "", "pathway": " (hsa:10945); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-9918476)", "pathway_count": 4, "publication_count": 163, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12634853;12761501;14504276;14517323;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18086916;18182008;18283113;18287528;18524849;18809720;1898986;19015319;19109418;19151722;19164740;19296914;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;2172835;21844168;22013193;22094269;22304919;23396477;23839779;24119662;24714562;24806965;25364732;25436559;25492864;26154972;26992070;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29331515;29786170;30315122;30410026;30429286;30779550;30833945;30846601;30958660;31154438;31217245;31337861;31844290;32157095;32350084;32357974;32387766;32562023;32645101;32938616;32983136;33298915;33936100;33968037;34171305;34357683;34509645;34932366;35051231;35251023;35452674;35580925;36010968;36241641;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8392934;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "Cell-type-specific differences in KDEL receptor clustering in mammalian cells. Publication Status: Online-Only, [RefSeq, PubMed]; KDEL receptor is a cell surface receptor that cycles between the plasma membrane and the Golgi via clathrin-mediated transport carriers., [RefSeq, PubMed]; Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008]., [RefSeq]; The cell surface trafficking of PDIA1, PDIA3, and PDIA6 is dependent on KDELR1, which travels in a dynamic manner to the cell surface. This transport is assumed to result in PDI cell surface association, which differs from PDI inducible secretion into the extracellular space., [RefSeq, PubMed]; Transcriptomics of a KDELR1 knockout cell line reveals modulated cell adhesion properties. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6N4;Q54A39;Q8NBW7", "ec_number_list": [], "go_molecular_function": "GO:0005046 KDEL sequence binding;GO:0046923 ER retention sequence binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0030133 transport vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006621 protein retention in ER lumen;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "P24390-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29323-1", "uniprot_id": [ { "id": "EPHB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P29323", "type": "external" } ], "mass": 117493.0, "length": 1055, "protein_name": "Ephrin type-B receptor 2", "gene_name": "EPHB2", "organism": "Human", "refseq_name": "ephrin type-B receptor 2 isoform 4 precursor", "refseq_ac": [ { "id": "NP_001296122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296122", "type": "external" } ], "gene_names_uniprotkb": "EPHB2; DRT; EPHT3; EPTH3; ERK; HEK5; TYRO5", "gene_names_refseq": "BDPLT22; CAPB; DRT; EK5; EPHB2; EPHT3; ERK; Hek5; PCBC; Tyro5", "protein_names_uniprotkb": "Ephrin type-B receptor 2; 2.7.10.1; Developmentally-regulated Eph-related tyrosine kinase; EK5; ELK-related tyrosine kinase; EPH tyrosine kinase 3; EPH-like kinase 5; Renal carcinoma antigen NY-REN-47; Tyrosine-protein kinase TYRO5; Tyrosine-protein kinase receptor EPH-3; hEK5", "protein_names_refseq": "EPH-like kinase 5; developmentally-regulated Eph-related tyrosine kinase; elk-related tyrosine kinase; eph tyrosine kinase 3; ephrin type-B receptor 2 isoform 4 precursor; ephrin type-B receptor 2; protein-tyrosine kinase HEK5; renal carcinoma antigen NY-REN-47; tyrosine-protein kinase TYRO5; tyrosine-protein kinase receptor EPH-3", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cognitive disorder (Disease Ontology:DOID:1561); blood platelet disease (Disease Ontology:DOID:2218); middle cerebral artery infarction (Disease Ontology:DOID:3525); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); congestive heart failure (Disease Ontology:DOID:6000); ulcerative colitis (Disease Ontology:DOID:8577); irritable bowel syndrome (Disease Ontology:DOID:9778); prostate cancer/brain cancer susceptibility (MONDO:MONDO:0011361); bleeding disorder, platelet-type, 22 (MONDO:MONDO:0032765)", "pathway": " (hsa:2048); (R-HSA-2682334); (R-HSA-373760); (R-HSA-3928662); (R-HSA-3928664); (R-HSA-3928665)", "pathway_count": 6, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;10047984;10219243;10508479;10848605;10995436;11058585;11134074;11237011;11448999;11557983;11572780;11580899;11747816;11780069;11804587;11983165;12084815;12495863;12546821;12676796;12695502;12702722;12973357;14978216;14988728;15300251;15351694;15378065;15548136;15721239;15800193;15848800;16000162;16155194;16298995;1648701;16511561;17310244;17322526;17344846;17428795;17440041;17548511;17897949;17928214;18691976;18713744;19369195;19525919;19553453;19661068;19915143;20496116;21152083;2201922;23090970;24190977;24677421;25418920;28719605;28931592;29393594;29557506;29789417;30213874;30379171;30524438;30833945;31154438;31848261;31996679;32938616;33280498;33592498;33912179;33968037;34405274;34742300;35051231;36010968;36805027;38665916;7478585;7601466;7688222;7898931;8033077;8589679;9499402;9696046;9933164", "class_list": "", "function": "Comparative crystalisation analysis of the human EphB family kinases has yielded new crystal forms of the human EphB2 and EphB4 catalytic domains., [RefSeq, PubMed]; Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Functions in axon guidance during development. Involved in the guidance of commissural axons, that form a major interhemispheric connection between the 2 temporal lobes of the cerebral cortex. Also involved in guidance of contralateral inner ear efferent growth cones at the midline and of retinal ganglion cell axons to the optic disk. In addition to axon guidance, also regulates dendritic spines development and maturation and stimulates the formation of excitatory synapses. Upon activation by EFNB1, abolishes the ARHGEF15-mediated negative regulation on excitatory synapse formation. Controls other aspects of development including angiogenesis, palate development and in inner ear development through regulation of endolymph production. Forward and reverse signaling through the EFNB2/EPHB2 complex regulate movement and adhesion of cells that tubularize the urethra and septate the cloaca. May function as a tumor suppressor. May be involved in the regulation of platelet activation and blood coagulation (PubMed:30213874)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 10, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O43477;Q5T0U6;Q5T0U7;Q5T0U8", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.4.24.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.24", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0005102 signaling receptor binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0021934 hindbrain tangential cell migration;GO:0120192 tight junction assembly;GO:0046425 regulation of receptor signaling pathway via JAK-STAT;GO:0097104 postsynaptic membrane assembly", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P29323-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50548-1", "uniprot_id": [ { "id": "ERF_HUMAN", "url": "https://www.uniprot.org/uniprot/P50548", "type": "external" } ], "mass": 58703.0, "length": 548, "protein_name": "ETS domain-containing transcription factor ERF", "gene_name": "ERF", "organism": "Human", "refseq_name": "ETS domain-containing transcription factor ERF isoform 2", "refseq_ac": [ { "id": "NP_001287964", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287964", "type": "external" } ], "gene_names_uniprotkb": "ERF", "gene_names_refseq": "CHYTS; CRS4; ERF; PE-2; PE2", "protein_names_uniprotkb": "ETS domain-containing transcription factor ERF; Ets2 repressor factor; PE-2", "protein_names_refseq": "ETS domain-containing transcription factor ERF isoform 2; ETS domain-containing transcription factor ERF", "tax_id": 9606, "disease": "craniosynostosis 4 (Disease Ontology:DOID:0061012); sciatic neuropathy (Disease Ontology:DOID:11446); extrahepatic cholestasis (Disease Ontology:DOID:13619); Parkinson's disease (Disease Ontology:DOID:14330); transient cerebral ischemia (Disease Ontology:DOID:224); glioblastoma (Disease Ontology:DOID:3068); adrenal carcinoma (Disease Ontology:DOID:3950); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); Chitayat syndrome (MONDO:MONDO:0014956)", "pathway": " (hsa:2077); (R-HSA-2559585)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10330152;10358095;11234019;11237011;11782450;11883935;14729966;15572696;16211008;17081983;18212344;18669648;18707149;18767875;19664994;19690332;20534573;22028470;22544926;23186163;23354439;23481700;24275569;25218447;25418920;25576301;25645385;26154972;26929215;26992070;27738187;27846572;27920218;28218747;28228285;28832583;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30524438;30779550;31154438;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33968037;34117072;34171305;34509645;34561969;35051231;35251023;35580925;35761471;36010968;36383412;37938771;38218889;38824261;7588608;8552081;9192842", "class_list": "", "function": "Activation of gamma-globin expression by LncRNA-mediated ERF promoter hypermethylation in beta-thalassemia. Publication Status: Online-Only, [RefSeq, PubMed]; Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene., [RefSeq, PubMed]; Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay. Publication Status: Online-Only, [RefSeq, PubMed]; ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]., [RefSeq]; Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis., [RefSeq, PubMed]; Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity)., [UniProtKB]; The CIC-ERF co-deletion underlies fusion-independent activation of ETS family member, ETV1, to drive prostate cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 29, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAP1;B7Z4R0;Q59G38;Q9UPI7", "ec_number_list": [], "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P50548-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58658-1", "uniprot_id": [ { "id": "EVA1C_HUMAN", "url": "https://www.uniprot.org/uniprot/P58658", "type": "external" } ], "mass": 49483.0, "length": 441, "protein_name": "Protein eva-1 homolog C", "gene_name": "EVA1C", "organism": "Human", "refseq_name": "protein eva-1 homolog C isoform 2 precursor", "refseq_ac": [ { "id": "NP_001273485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273485", "type": "external" } ], "gene_names_uniprotkb": "EVA1C; C21orf63; C21orf64; FAM176C; PRED34; PRO5993", "gene_names_refseq": "B18; B19; C21orf63; C21orf64; EVA1C; FAM176C; PRED34; SUE21", "protein_names_uniprotkb": "Protein eva-1 homolog C; Protein FAM176C; SUE21", "protein_names_refseq": "family with sequence similarity 176, member C; protein FAM176C; protein eva-1 homolog C isoform 2 precursor; protein eva-1 homolog C", "tax_id": 9606, "disease": "", "pathway": " (hsa:59271)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11707072;12975309;17672918;19470522;29393594;29557506;34267752", "class_list": "", "function": "Binds heparin., [UniProtKB, PubMed]; C21orf63 is a heparin-binding protein; in glycan microassay, the product of C21orf63 binds with heparin and heparan sulfate; real-time polymerase chain reaction and tissue immunostaining imply that C21orf63 is expressed on epithelia of various tissues, [RefSeq, PubMed]; EVA1C Is a Potential Prognostic Biomarker and Correlated With Immune Infiltration Levels in WHO Grade II/III Glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Validated occurrence of an unusual TG 3' splice site in intron 3, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6ND58;Q8IXZ0", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P58658-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04743-1", "uniprot_id": [ { "id": "EMX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04743", "type": "external" } ], "mass": 28303.0, "length": 252, "protein_name": "Homeobox protein EMX2", "gene_name": "EMX2", "organism": "Human", "refseq_name": "homeobox protein EMX2 isoform 2", "refseq_ac": [ { "id": "NP_001159396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159396", "type": "external" } ], "gene_names_uniprotkb": "EMX2", "gene_names_refseq": "EMX2", "protein_names_uniprotkb": "Homeobox protein EMX2; Empty spiracles homolog 2; Empty spiracles-like protein 2", "protein_names_refseq": "empty spiracles homolog 2; empty spiracles-like protein 2; homeobox protein EMX2 isoform 2; homeobox protein EMX2", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); stomach cancer (Disease Ontology:DOID:10534); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung adenocarcinoma (Disease Ontology:DOID:3910); esophagus adenocarcinoma (Disease Ontology:DOID:4914); malignant pleural mesothelioma (Disease Ontology:DOID:7474); colorectal cancer (Disease Ontology:DOID:9256); schizencephaly (MONDO:MONDO:0010011)", "pathway": " (hsa:2018); (R-HSA-9830364)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "11230166;11237011;11549315;12185771;1352754;23271734;34016958;34364391;35051231;35818636;38362840;8528262", "class_list": "", "function": "EMX2 gene has been reported in schezencephaly (cleft brain) including epilepsy in some patients. Review article, [RefSeq, PubMed]; EMX2 inhibits clear cell renal cell carcinoma progress via modulating Akt/FOXO3a pathway., [RefSeq, PubMed]; Empty spiracles homeobox genes EMX1 and EMX2 regulate WNT pathway activation in sarcomagenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of sarcomagenesis by the empty spiracles homeobox genes EMX1 and EMX2. Publication Status: Online-Only, [RefSeq, PubMed]; Spatial control of astrogenesis progression by cortical arealization genes., [RefSeq, PubMed]; This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]., [RefSeq]; Transcription factor, which in cooperation with EMX1, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combination with OTX1/2 to specify cell fates in the developing central nervous system. In the inner ear, it controls the distribution of GPR156 at hair cell boundaries, and regulates the organization of stereociliary bundles in opposite orientations across the line of polarity reversal (LPR)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "G3V305;Q96NN8;Q9BQF4", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0030424 axon;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0007417 central nervous system development;GO:0007420 brain development;GO:0030182 neuron differentiation;GO:0160194 stereocilium bundle organization", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q04743-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0P6D2-1", "uniprot_id": [ { "id": "DIK1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0P6D2", "type": "external" } ], "mass": 46420.0, "length": 419, "protein_name": "Divergent protein kinase domain 1C", "gene_name": "DIPK1C", "organism": "Human", "refseq_name": "divergent protein kinase domain 1C", "refseq_ac": [ { "id": "NP_001037834", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001037834", "type": "external" } ], "gene_names_uniprotkb": "DIPK1C; C18orf51; FAM69C", "gene_names_refseq": "C18orf51; DIPK1C; FAM69C; FNCAD", "protein_names_uniprotkb": "Divergent protein kinase domain 1C; Protein FAM69C", "protein_names_refseq": "divergent protein kinase domain 1C; familial non-conventional Alzheimer's dementia; family with sequence similarity 69 member C; protein FAM69C", "tax_id": 9606, "disease": "", "pathway": " (hsa:125704)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "32157095;37217939", "class_list": "", "function": "This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q0P6D2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14153-1", "uniprot_id": [ { "id": "FA53B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14153", "type": "external" } ], "mass": 45768.0, "length": 422, "protein_name": "Protein FAM53B", "gene_name": "FAM53B", "organism": "Human", "refseq_name": "protein FAM53B", "refseq_ac": [ { "id": "NP_055476", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055476", "type": "external" } ], "gene_names_uniprotkb": "FAM53B; KIAA0140; SMP", "gene_names_refseq": "FAM53B; KIAA0140; bA12J10.2; smp", "protein_names_uniprotkb": "Protein FAM53B; Protein simplet", "protein_names_refseq": "protein FAM53B; protein simplet; simplet homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9679)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "17322306;18669648;18767875;19413330;19727342;23186163;24715725;25183871;28411811;31154438;32157095;33298915;33912179;35598218", "class_list": "", "function": "Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization., [UniProtKB, PubMed]; Strong candidate gene for age-related macular degeneration, ARMS2, (human 10q26.13). Conclusion is based on a massive expression data set for mouse (103 strains) and joint analysis of RetNet database. Publication Status: Online-Only, [RefSeq, PubMed]; The circ_FAM53B-miR-183-5p-CCDC6 axis modulates the malignant behaviors of papillary thyroid carcinoma cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DRF1;Q5VUW1;Q5VUW2;Q8N5S6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0016055 Wnt signaling pathway;GO:0060828 regulation of canonical Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q14153-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5HY64-1", "uniprot_id": [ { "id": "FA47C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5HY64", "type": "external" } ], "mass": 115338.0, "length": 1035, "protein_name": "Putative protein FAM47C", "gene_name": "FAM47C", "organism": "Human", "refseq_name": "putative protein FAM47C", "refseq_ac": [ { "id": "NP_001013758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013758", "type": "external" } ], "gene_names_uniprotkb": "FAM47C", "gene_names_refseq": "FAM47C", "protein_names_uniprotkb": "Putative protein FAM47C", "protein_names_refseq": "putative protein FAM47C", "tax_id": 9606, "disease": "", "pathway": " (hsa:442444)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "35051231;40136647", "class_list": "", "function": "This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this family member includes several tandemly repeated regions. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZU46", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5HY64-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JRC9-1", "uniprot_id": [ { "id": "FA47A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JRC9", "type": "external" } ], "mass": 90592.0, "length": 791, "protein_name": "Protein FAM47A", "gene_name": "FAM47A", "organism": "Human", "refseq_name": "protein FAM47A", "refseq_ac": [ { "id": "NP_981953", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_981953", "type": "external" } ], "gene_names_uniprotkb": "FAM47A", "gene_names_refseq": "FAM47A", "protein_names_uniprotkb": "Protein FAM47A", "protein_names_refseq": "protein FAM47A", "tax_id": 9606, "disease": "", "pathway": " (hsa:158724)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "17924679;29557506;30379171;30833945;31844290", "class_list": "", "function": "Includes the identification of a phosphopeptide from this protein., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K8I9;Q8TAA0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q5JRC9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5MY95-1", "uniprot_id": [ { "id": "ENTP8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5MY95", "type": "external" } ], "mass": 53904.0, "length": 495, "protein_name": "Ectonucleoside triphosphate diphosphohydrolase 8", "gene_name": "ENTPD8", "organism": "Human", "refseq_name": "ectonucleoside triphosphate diphosphohydrolase 8 isoform 1", "refseq_ac": [ { "id": "NP_001028285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028285", "type": "external" } ], "gene_names_uniprotkb": "ENTPD8; PRO5779", "gene_names_refseq": "E-NTPDase; ENTPD8; GLSR2492; NTPDase-8; UNQ2492", "protein_names_uniprotkb": "Ectonucleoside triphosphate diphosphohydrolase 8; 3.6.1.5; E-NTPDase 8; NTPDase 8; NTPDase8", "protein_names_refseq": "E-NTPDase 8; ectonucleoside triphosphate diphosphohydrolase 8 isoform 1; liver ecto-ATP-diphosphohydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:377841); (R-HSA-8850843)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;10400613;10470077;10510450;10681547;10866813;10948193;11041856;11041857;11237011;11278936;11927941;11929769;12694193;12888562;12975309;14529283;14675084;15122917;15130768;16338080;16752921;17095758;17502665;17603550;18404504;18404510;19640930;20682839;21074248;21586362;22169232;23241884;29557506;29741879;29789417;32387766;34185709;35051231;35580925;8955160;8995405;9364474;9556635;9675246", "class_list": "", "function": "Canalicular ectonucleoside NTPDase responsible for the main hepatic NTPDase activity (PubMed:17095758). Catalyzes the hydrolysis of nucleoside triphosphates (NTPs) and diphosphates (NDPs) (PubMed:16752921, PubMed:17095758, PubMed:17603550). The enzyme sequentially removes phosphate groups in two successive steps, converting NTPs to nucleoside monophosphates (NMPs) via NDP intermediates (PubMed:16752921, PubMed:17095758, PubMed:17603550). This activity contributes to the regulation of extracellular levels of nucleotides (PubMed:16752921, PubMed:17095758, PubMed:17603550). Hydrolyzes ATP, UTP, ADP, and UDP and prefers triphosphonucleosides and adenine over uracil as substrates (PubMed:17095758). Does not hydrolyzes AMP (PubMed:17095758)., [UniProtKB, PubMed, PubMed, PubMed]; NTPDase8 is the canalicular ecto-ATPase/ATPDase and is responsible for the main hepatic NTPDase activity., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A2BG17;Q6UVZ0", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.16", "type": "external" }, { "id": "3.6.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.53", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0004382 GDP phosphatase activity;GO:0043262 ADP phosphatase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0009203 ribonucleoside triphosphate catabolic process;GO:0009191 ribonucleoside diphosphate catabolic process;GO:0009134 nucleoside diphosphate catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q5MY95-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VUD6-1", "uniprot_id": [ { "id": "DIK1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VUD6", "type": "external" } ], "mass": 48583.0, "length": 431, "protein_name": "Divergent protein kinase domain 1B", "gene_name": "DIPK1B", "organism": "Human", "refseq_name": "divergent protein kinase domain 1B", "refseq_ac": [ { "id": "NP_689634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689634", "type": "external" } ], "gene_names_uniprotkb": "DIPK1B; C9orf136; FAM69B; PP6977", "gene_names_refseq": "C9orf136; DIPK1B; FAM69B; pp6977", "protein_names_uniprotkb": "Divergent protein kinase domain 1B; Protein FAM69B", "protein_names_refseq": "divergent protein kinase domain 1B; family with sequence similarity 69 member B; protein FAM69B", "tax_id": 9606, "disease": "", "pathway": " (hsa:138311)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1038/emboj.2013.79;15498874;23584533;26992070;27600516;28834231;30429286;31844290;32157095;32350084;32897882;34171305;35051231;35251023;35580925", "class_list": "", "function": "This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5VUD7;Q8N5N0;Q8WYU5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q5VUD6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWP2-1", "uniprot_id": [ { "id": "TET5C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWP2", "type": "external" } ], "mass": 44944.0, "length": 391, "protein_name": "Terminal nucleotidyltransferase 5C", "gene_name": "TENT5C", "organism": "Human", "refseq_name": "terminal nucleotidyltransferase 5C", "refseq_ac": [ { "id": "NP_060179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060179", "type": "external" } ], "gene_names_uniprotkb": "TENT5C; FAM46C", "gene_names_refseq": "FAM46C; TENT5C", "protein_names_uniprotkb": "Terminal nucleotidyltransferase 5C; 2.7.7.19; Non-canonical poly(A) polymerase FAM46C", "protein_names_refseq": "family with sequence similarity 46 member C; non-canonical poly(A) polymerase FAM46C; protein FAM46C; putative nucleotidyltransferase FAM46C; terminal nucleotidyltransferase 5C", "tax_id": 9606, "disease": "", "pathway": " (hsa:54855)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "21478870;21994415;24714562;25576301;26154972;26375851;26456599;26728094;26992070;27770343;27846572;27862975;28228285;28341836;28832583;28931820;29242379;29508533;29557506;29632711;29786170;29789417;30429286;30484775;30524438;30779550;31154438;31844290;31848261;32009146;32157095;32433990;32488085;32502341;32807875;32897882;32938616;32966780;32983136;33592498;33691108;33912179;33936100;33968037;33981976;34048638;34185709;34932366;35051231;35318648;35580925;36215666;36241641;36284347;37155154;37467675", "class_list": "", "function": "(Microbial infection) Seems to enhance replication of some viruses, including yellow fever virus, in response to type I interferon., [UniProtKB, PubMed]; Catalyzes the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3'-OH terminal group and enhances mRNA stability and gene expression (PubMed:28931820, PubMed:32009146, PubMed:34048638). Can also elongate RNA oligos ending with uridine molecule, provided that the sequence is adenosine-rich (PubMed:34048638). Mainly targets mRNAs encoding endoplasmic reticulum-targeted protein (PubMed:28931820)., [UniProtKB, PubMed, PubMed, PubMed]; Data indicate that when cases with FAM46C deletion or mutation were considered together, they were strongly associated with impaired overall survival (OS) in the intensive treatment setting., [RefSeq, PubMed]; Data strengthen the growing evidence that the FAM46C gene is involved in the pathogenesis of MM as a potential tumour suppressor, although its role remains to be clarified., [RefSeq, PubMed]; FAM46C-mediated tumor heterogeneity predicts extramedullary metastasis and poorer survival in multiple myeloma., [RefSeq, PubMed]; Hsa-miR-1269a up-regulation fosters the malignant progression of esophageal squamous cell carcinoma via targeting FAM46C., [RefSeq, PubMed]; Reduced FAM46C mRNA expression levels were associated with Gastric Cancer., [RefSeq, PubMed]; Structural and functional characterization of multiple myeloma associated cytoplasmic poly(A) polymerase FAM46C., [RefSeq, PubMed]; Study shows that FAM46C, a tumor suppressor for hepatocellular carcinoma, is important for the anti-proliferation and proapoptotic effects of norcantharidin. Erratum:[Sci Rep. 2017 Dec 11;7(1):17576. doi: 10.1038/s41598-017-17244-x. PMID: 29230037] Publication Status: Online-Only, [RefSeq, PubMed]; The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A3KMG2;Q8NE25;Q9NXK0", "ec_number_list": [ { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:1990817 poly(A) RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0048255 mRNA stabilization;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q5VWP2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5W0A0-1", "uniprot_id": [ { "id": "ERI6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5W0A0", "type": "external" } ], "mass": 81686.0, "length": 696, "protein_name": "Glutamate-rich protein 6B", "gene_name": "ERICH6B", "organism": "Human", "refseq_name": "glutamate-rich protein 6B", "refseq_ac": [ { "id": "NP_872348", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872348", "type": "external" } ], "gene_names_uniprotkb": "ERICH6B; FAM194B", "gene_names_refseq": "ERICH6B; FAM194B", "protein_names_uniprotkb": "Glutamate-rich protein 6B; Protein FAM194B", "protein_names_refseq": "family with sequence similarity 194, member B; glutamate-rich protein 6B; protein FAM194B", "tax_id": 9606, "disease": "", "pathway": " (hsa:220081)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "20379614;33392160;35051231;36215666", "class_list": "", "function": "Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729], [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96MB5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5W0A0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6L9T8-1", "uniprot_id": [ { "id": "FA72D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6L9T8", "type": "external" } ], "mass": 16688.0, "length": 149, "protein_name": "Protein FAM72D", "gene_name": "FAM72D", "organism": "Human", "refseq_name": "protein FAM72D isoform 1", "refseq_ac": [ { "id": "NP_997301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997301", "type": "external" } ], "gene_names_uniprotkb": "FAM72D; GCUD2", "gene_names_refseq": "FAM72D; GCUD2", "protein_names_uniprotkb": "Protein FAM72D; Gastric cancer up-regulated protein 2", "protein_names_refseq": "gastric cancer up-regulated protein 2; gastric cancer up-regulated-2; protein FAM72D isoform 1; protein FAM72D", "tax_id": 9606, "disease": "", "pathway": " (hsa:728833)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "26206078;31221779;32897882;32938616;33691108;33968037;34509645;36241641", "class_list": "", "function": "An epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci (FAM72A, FAM72B, FAM72C, FAM72D)., [RefSeq, PubMed]; The hydroxymethylome of multiple myeloma identifies FAM72D as a 1q21 marker linked to proliferation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6L9T8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NSI3-1", "uniprot_id": [ { "id": "FA53A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NSI3", "type": "external" } ], "mass": 42585.0, "length": 398, "protein_name": "Protein FAM53A", "gene_name": "FAM53A", "organism": "Human", "refseq_name": "protein FAM53A isoform 1", "refseq_ac": [ { "id": "NP_001013644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013644", "type": "external" } ], "gene_names_uniprotkb": "FAM53A", "gene_names_refseq": "DNTNP; FAM53A", "protein_names_uniprotkb": "Protein FAM53A; Dorsal neural-tube nuclear protein", "protein_names_refseq": "dorsal neural-tube nuclear protein; protein FAM53A isoform 1; protein FAM53A", "tax_id": 9606, "disease": "", "pathway": " (hsa:152877)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;23186163;28179588;35051231", "class_list": "", "function": "Expression levels of TP53BP2, FBXO28, and FAM53A genes were associated with patient survival specifically in ER-positive, TP53-mutated tumors., [RefSeq, PubMed]; May play an important role in neural development; the dorsomedial roof of the third ventricle., [UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZUL5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6NSI3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXB0-3", "uniprot_id": [ { "id": "F131A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXB0", "type": "external" } ], "mass": 39503.0, "length": 366, "protein_name": "Protein FAM131A", "gene_name": "FAM131A", "organism": "Human", "refseq_name": "protein FAM131A isoform 2", "refseq_ac": [ { "id": "NP_001164564", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164564", "type": "external" } ], "gene_names_uniprotkb": "FAM131A; C3orf40; PRO1378", "gene_names_refseq": "C3orf40; FAM131A; FLAT715; PRO1378", "protein_names_uniprotkb": "Protein FAM131A", "protein_names_refseq": "protein FAM131A isoform 2; protein FAM131A", "tax_id": 9606, "disease": "", "pathway": " (hsa:131408)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12975309;16959974;30779550;31154438;31844290;31848261;32488085;33141586;33981976", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DNT6;G5E9B1;Q8TA84", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6UXB0-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86V20-1", "uniprot_id": [ { "id": "SHLD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86V20", "type": "external" } ], "mass": 93705.0, "length": 835, "protein_name": "Shieldin complex subunit 2", "gene_name": "SHLD2", "organism": "Human", "refseq_name": "shieldin complex subunit 2 isoform 1", "refseq_ac": [ { "id": "NP_001317041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317041", "type": "external" } ], "gene_names_uniprotkb": "SHLD2; FAM35A; RINN2", "gene_names_refseq": "FAM35A1; FAM35A; RINN2; SHLD2; bA163M19.1", "protein_names_uniprotkb": "Shieldin complex subunit 2; Protein FAM35A; RINN1-REV7-interacting novel NHEJ regulator 2; Shield complex subunit 2", "protein_names_refseq": "RINN1-REV7-interacting novel NHEJ regulator 2; family with sequence similarity 35 member A; protein FAM35A; shield complex subunit 2; shieldin complex subunit 2 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54537)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;17525332;23481700;25880248;26024233;26992070;27862975;27893789;27899376;28063628;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29557506;29632046;29656893;29769354;29789392;29942023;30154076;30410026;30429286;31092671;31217245;31844290;32157095;32357974;32488085;32502341;32938616;33298915;33633747;33691108;33912179;33968037;34171305;34354233;35051231;35580925;36215666", "class_list": "", "function": "Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893, PubMed:29789392). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893, PubMed:29789392). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893)., [UniProtKB, PubMed, PubMed]; Found FAM35A, a previously unstudied protein with an unstructured N-terminal region and a C-terminal region harboring three OB-fold domains similar to single-stranded DNA-binding protein RPA, as novel interactor of REV7/RIF1/53BP1., [RefSeq, PubMed]; Genetic association and functional analysis of rs7903456 in FAM35A gene and hyperuricemia Publication Status: Online-Only, [RefSeq, PubMed]; The FAM35A locus showed an association with all gout by meta-analysis among the Japanese, Caucasian and NZ Polynesian sample sets at a genome-wide level of significance., [RefSeq, PubMed]; These results establish SHLD2 as a novel effector of REV7 in controlling the decision-making process during DSB repair., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95885;Q9H991", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0035861 site of double-strand break;GO:0005694 chromosome", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0043247 telomere maintenance in response to DNA damage;GO:0006281 DNA repair;GO:0045830 positive regulation of isotype switching", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q86V20-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUS5-1", "uniprot_id": [ { "id": "EPHX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUS5", "type": "external" } ], "mass": 42324.0, "length": 362, "protein_name": "Epoxide hydrolase 4", "gene_name": "EPHX4", "organism": "Human", "refseq_name": "epoxide hydrolase 4", "refseq_ac": [ { "id": "NP_775838", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775838", "type": "external" } ], "gene_names_uniprotkb": "EPHX4; ABHD7; EH4; EPHXRP", "gene_names_refseq": "ABHD7; EH4; EPHX4; EPHXRP", "protein_names_uniprotkb": "Epoxide hydrolase 4; 3.3.-.-; Abhydrolase domain-containing protein 7; Epoxide hydrolase-related protein", "protein_names_refseq": "abhydrolase domain containing 7; abhydrolase domain-containing protein 7; epoxide hydrolase 4; epoxide hydrolase-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:253152)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "20237496;20723587;22798687;32387766;34066758;35051231;38663041", "class_list": "", "function": "Comprehensive analysis of the immune implication of EPHX4 gene in laryngeal squamous cell carcinoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Relative Importance of Soluble and Microsomal Epoxide Hydrolases for the Hydrolysis of Epoxy-Fatty Acids in Human Tissues. Publication Status: Online-Only, [RefSeq, PubMed]; The identification of two human epoxide hydrolases: EH3 and EH4., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NCC6", "ec_number_list": [], "go_molecular_function": "GO:0016787 hydrolase activity;GO:0004301 epoxide hydrolase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8IUS5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N693-1", "uniprot_id": [ { "id": "ESX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N693", "type": "external" } ], "mass": 44297.0, "length": 406, "protein_name": "Homeobox protein ESX1", "gene_name": "ESX1", "organism": "Human", "refseq_name": "homeobox protein ESX1", "refseq_ac": [ { "id": "NP_703149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_703149", "type": "external" } ], "gene_names_uniprotkb": "ESX1; ESX1L; ESX1R", "gene_names_refseq": "ESX1L; ESX1; ESXR1", "protein_names_uniprotkb": "Homeobox protein ESX1; Extraembryonic, spermatogenesis, homeobox 1", "protein_names_refseq": "ESX1-related protein; extraembryonic, spermatogenesis, homeobox 1 homolog; homeobox protein ESX1", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); non-syndromic X-linked intellectual disability 1 (Disease Ontology:DOID:0112038)", "pathway": " (hsa:80712)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11374906;15235584;15601583;15897875;16613891;25316452;27846572;30379171;31793700;33633269;35051231;37783880", "class_list": "", "function": "Association of ESX1 gene variants with non-obstructive azoospermia in Chinese males. Publication Status: Online-Only, [RefSeq, PubMed]; Could analysis of testis-specific genes, as biomarkers in seminal plasma, predict presence of focal spermatogenesis in non-obstructive azoospermia?, [RefSeq, PubMed]; ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia. Publication Status: Online-Only, [RefSeq, PubMed]; ESX1 mRNA level decreases as the severity of spermatogenic defects increase in non-obstructive azoospermic men., [RefSeq, PubMed]; ESX1L is expressed during all stages of placental development and is localized to sparse areas of trophoblast in terminal villi in association with cytotrophoblastic cells, [RefSeq, PubMed]; In FGR-affected placentae, ESX1L levels were lower than in gestation-matched controls, indicating a potential role for the ESX1L gene within the growth control mechanism of the fetus, through its effect on placental function., [RefSeq, PubMed]; May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5'-TAATGTTATTA-3' which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover., [UniProtKB, PubMed, PubMed]; Proteolytic processing of ESXR1 plays a role in concerted regulation of the cell cycle and transcription in human cells, [RefSeq, PubMed]; This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0QYU3;Q7Z6K7", "ec_number_list": [], "go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8N693-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NA70-1", "uniprot_id": [ { "id": "FA47B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NA70", "type": "external" } ], "mass": 73945.0, "length": 645, "protein_name": "Protein FAM47B", "gene_name": "FAM47B", "organism": "Human", "refseq_name": "protein FAM47B", "refseq_ac": [ { "id": "NP_689844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689844", "type": "external" } ], "gene_names_uniprotkb": "FAM47B", "gene_names_refseq": "FAM47B", "protein_names_uniprotkb": "Protein FAM47B", "protein_names_refseq": "protein FAM47B", "tax_id": 9606, "disease": "", "pathway": " (hsa:170062)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "30379171;32938616;33968037;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JQN5;Q6PIG3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NA70-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q902F9-1", "uniprot_id": [ { "id": "EN113_HUMAN", "url": "https://www.uniprot.org/uniprot/Q902F9", "type": "external" } ], "mass": 79236.0, "length": 699, "protein_name": "Endogenous retrovirus group K member 113 Env polyprotein", "gene_name": "HERVK_113", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HERVK_113", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 113 Env polyprotein; EnvK5 protein; Envelope polyprotein; HERV-K113 envelope protein; HERV-K_19p13.11 provirus ancestral Env polyprotein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "11591322;12629516;12970426;14557543", "class_list": "", "function": "Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties., [UniProtKB, PubMed]; SU mediates receptor recognition., [UniProtKB]; TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity)., [UniProtKB]", "predicted_glycosites": 13, "predicted_n_glycosites": 11, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q902F9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99504-1", "uniprot_id": [ { "id": "EYA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99504", "type": "external" } ], "mass": 62663.0, "length": 573, "protein_name": "Protein phosphatase EYA3", "gene_name": "EYA3", "organism": "Human", "refseq_name": "protein phosphatase EYA3 isoform b", "refseq_ac": [ { "id": "NP_001269489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269489", "type": "external" } ], "gene_names_uniprotkb": "EYA3", "gene_names_refseq": "EYA3", "protein_names_uniprotkb": "Protein phosphatase EYA3; 3.1.3.48; Eyes absent homolog 3", "protein_names_refseq": "eyes absent 3; eyes absent homolog 3; protein phosphatase EYA3 isoform b; protein phosphatase EYA3", "tax_id": 9606, "disease": "branchiootorenal syndrome (Disease Ontology:DOID:14702); eye disease (Disease Ontology:DOID:5614)", "pathway": " (hsa:2140); (R-HSA-5693565)", "pathway_count": 2, "publication_count": 163, "publication_id_list": "10.1101/2023.09.13.557529;10550055;10724175;10766245;10802669;10866324;10959836;10973490;11025670;11114888;11237011;11390408;11571274;11573085;11893489;11927591;11934988;12364621;12447390;12485996;12607003;12607005;12697768;12773400;12792649;12832489;12890688;14560035;15064416;15201865;15279782;16150728;16377563;16427009;16651405;17525332;17525340;17553757;17697703;17848578;18001824;18001825;18006705;18077395;18077418;18443292;18644861;19001859;19092802;19117993;19176521;19203578;19203579;19234442;19261749;19351884;19651622;19664994;19782031;20016603;20023648;20351172;21282113;21293379;21406692;22234877;22373579;22508508;22589545;22723308;22908299;22980979;23186163;23301498;23481700;24667604;24715725;25576301;25645385;25880248;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29440662;29493099;29508533;29557506;29632046;29632711;29786170;30059200;30315122;30379171;30410026;30484775;30524438;31154438;31217245;31844290;31847183;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33214551;33298915;33392160;33475861;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34405274;34419070;34509645;34725712;34932366;35051231;35138101;35251023;35254053;35318648;35494241;35561310;35580925;36010968;37340703;37507637;38665916;39531497;39534244;40596516;40914422;8944023;9020840;9049631;9168116;9488723;9887327", "class_list": "", "function": "A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum., [RefSeq, PubMed]; Circular RNA CircEYA3 induces energy production to promote pancreatic ductal adenocarcinoma progression through the miR-1294/c-Myc axis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance., [RefSeq, PubMed]; These studies identify EYA3 as a novel mediator of chemoresistance in Ewing sarcoma and define the molecular mechanisms of both EYA3 overexpression and of EYA3-mediated chemoresistance, [RefSeq, PubMed]; This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1 (PubMed:19234442, PubMed:19351884). Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX5. The repression of precursor cell proliferation in myoblasts by SIX1 is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex and seems to be dependent on EYA3 phosphatase activity (By similarity). May be involved in development of the eye., [UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A8K190;B4DIR7;B4DNZ7;O95463;Q8IVX7;Q99813", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004725 protein tyrosine phosphatase activity;GO:0140793 histone H2AXY142 phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0007601 visual perception;GO:0006302 double-strand break repair;GO:0010212 response to ionizing radiation", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "Q99504-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ60-1", "uniprot_id": [ { "id": "EQTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ60", "type": "external" } ], "mass": 32840.0, "length": 294, "protein_name": "Equatorin", "gene_name": "EQTN", "organism": "Human", "refseq_name": "equatorin isoform 2 precursor", "refseq_ac": [ { "id": "NP_001155057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155057", "type": "external" } ], "gene_names_uniprotkb": "EQTN; AFAF; C9orf11", "gene_names_refseq": "AFAF; C9orf11; EQTN; SPACA8", "protein_names_uniprotkb": "Equatorin; Acrosome formation-associated factor", "protein_names_refseq": "Acrosome formation associated factor; acrosome formation-associated factor; equatorin isoform 2 precursor; equatorin, sperm acrosome associated; sperm acrosome associated 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:54586)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11118625;20801718;28411811;35051231", "class_list": "", "function": "A genome-wide association study finds that the chromosome 9p21 locus is a major cause of familial amyotrophic lateral sclerosis in the Finnish population., [RefSeq, PubMed]; Acrosomal membrane-anchored protein involved in the process of fertilization and in acrosome biogenesis., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RPB3;B7ZMK1;Q5TCU1;Q96L22", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0002079 inner acrosomal membrane;GO:0002081 outer acrosomal membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0060478 acrosomal vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9NQ60-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRM1-1", "uniprot_id": [ { "id": "ENAM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRM1", "type": "external" } ], "mass": 128785.0, "length": 1142, "protein_name": "Enamelin", "gene_name": "ENAM", "organism": "Human", "refseq_name": "enamelin isoform 1 precursor", "refseq_ac": [ { "id": "NP_114095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114095", "type": "external" } ], "gene_names_uniprotkb": "ENAM", "gene_names_refseq": "ADAI; AI1C; AIH2; ENAM", "protein_names_uniprotkb": "Enamelin", "protein_names_refseq": "amelogenesis imperfecta 2, hypocalcification (autosomal dominant); enamelin isoform 1 precursor", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); developmental and epileptic encephalopathy 12 (Disease Ontology:DOID:0080459); amelogenesis imperfecta type 1B (Disease Ontology:DOID:0110052); amelogenesis imperfecta type 1C (Disease Ontology:DOID:0110056); Alzheimer's disease (Disease Ontology:DOID:10652); amelogenesis imperfecta (Disease Ontology:DOID:2187); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); acute myeloid leukemia (Disease Ontology:DOID:9119); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:10117); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 77, "publication_id_list": "10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11037750;11158056;11237011;11250653;11264294;11316783;11487571;11522292;11606061;11739083;11751371;11788658;11978766;12241545;12379487;12407086;12466191;12810533;12904166;1370451;1383255;14684688;15126567;15308688;15345747;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;18245370;20439930;2476804;2479552;25789606;25892735;26091039;33864320;35051231;35494241;37985977;38642606;38716742;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta, [RefSeq, PubMed]; A novel ENAM mutation causes hypoplastic amelogenesis imperfecta., [RefSeq, PubMed]; Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]., [RefSeq]; ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta., [RefSeq, PubMed]; Genetic variations in exon 10 of ENAM and their association with early childhood caries., [RefSeq, PubMed]; Heterogeneous mutations are responsible for an autosomal-dominant hypoplastic form of amelogenesis imperfecta, [RefSeq, PubMed]; Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation., [UniProtKB, UniProtKB]; Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 11, "predicted_n_glycosites": 10, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 62, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q17RI5;Q9H3D1", "ec_number_list": [], "go_molecular_function": "GO:0030345 structural constituent of tooth enamel", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix", "go_biological_process": "GO:0031214 biomineral tissue development;GO:0070175 positive regulation of enamel mineralization;GO:0097186 amelogenesis;GO:0036305 ameloblast differentiation", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9NRM1-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVM1-1", "uniprot_id": [ { "id": "EVA1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVM1", "type": "external" } ], "mass": 18374.0, "length": 165, "protein_name": "Protein eva-1 homolog B", "gene_name": "EVA1B", "organism": "Human", "refseq_name": "protein eva-1 homolog B", "refseq_ac": [ { "id": "NP_001291691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291691", "type": "external" } ], "gene_names_uniprotkb": "EVA1B; C1orf78; FAM176B", "gene_names_refseq": "C1orf78; EVA1B; FAM176B", "protein_names_uniprotkb": "Protein eva-1 homolog B; Protein FAM176B", "protein_names_refseq": "family with sequence similarity 176, member B; protein FAM176B; protein eva-1 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:55194)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "18318008;20166139;25892735;29769354;33889156;34078123", "class_list": "", "function": "EVA1B to Evaluate the Tumor Immune Microenvironment and Clinical Prognosis in Glioma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DPS7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9NVM1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYK6-1", "uniprot_id": [ { "id": "EURL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYK6", "type": "external" } ], "mass": 33948.0, "length": 297, "protein_name": "Protein EURL homolog", "gene_name": "C21orf91; EURL", "organism": "Human", "refseq_name": "protein EURL homolog isoform 1", "refseq_ac": [ { "id": "NP_001093890", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093890", "type": "external" } ], "gene_names_uniprotkb": "C21orf91; EURL; C21orf14; C21orf38; C21orf91; YG81", "gene_names_refseq": "BTG3-7:1; C21orf14; C21orf38; C21orf91; CSSG1; EURL; YG81", "protein_names_uniprotkb": "Protein EURL homolog", "protein_names_refseq": "cold sore susceptibility gene 1; early undifferentiated retina and lens; protein EURL homolog isoform 1; protein EURL homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:54149)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12815627;22039568;25645385;26992070;27404227;27862975;28228285;28832583;28904123;29508533;31844290;32157095;33141586;33298915;33592498;33936100;35580925;36010968;36241641;40307207", "class_list": "", "function": "Authors demonstrate that human AL109761 is in fact the human ortholog of chicken EURL (GeneID: 395489), [RefSeq, PubMed]; EURL is an important new player in neuronal development that is likely to impact on the neuropathogenesis of HSA21-related disorders including Down Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in cortical progenitor cell proliferation and differentiation. Promotes dendritic spine development of post-migratory cortical projection neurons by modulating the beta-catenin signaling pathway., [UniProtKB, UniProtKB]; Two complementary techniques identified C21orf91 as a gene of interest for susceptibility to herpes simplex labialis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RB30;Q96BK9;Q9H8C6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0060999 positive regulation of dendritic spine development;GO:0021895 cerebral cortex neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9NYK6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NMB9-1", "uniprot_id": [ { "id": "FIGL2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NMB9", "type": "external" } ], "mass": 66603.0, "length": 653, "protein_name": "Fidgetin-like protein 2", "gene_name": "FIGNL2", "organism": "Human", "refseq_name": "fidgetin-like protein 2", "refseq_ac": [ { "id": "NP_001013712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013712", "type": "external" } ], "gene_names_uniprotkb": "FIGNL2", "gene_names_refseq": "FIGNL2", "protein_names_uniprotkb": "Fidgetin-like protein 2; 3.6.4.-", "protein_names_refseq": "fidgetin-like protein 2; putative fidgetin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:401720)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "25756798;28228285;31844290;32357974;32387766;32938616;33968037;35051231;36523161", "class_list": "", "function": "Fidgetin-like 2 depletion enhances cell migration by regulating GEF-H1, RhoA, and FAK., [RefSeq, PubMed]; Microtubule-severing enzyme that negatively regulates cell migration and wound healing (PubMed:25756798, PubMed:36523161). In migrating cells, targets dynamic microtubules (MTs) at the leading edge and severs them, thereby suppressing motility (PubMed:25756798, PubMed:36523161). Microtubule severing releases ARHGEF2 which activates RHOA, which in turn regulates focal ahesion turnover via focal adhesion kinase, as opposed to F-actin polymerization, to suppress cell motility (PubMed:36523161). Negative regulator of axon regeneration that suppresses axonal growth by selectively severing dynamic MTs in the distal axon shaft and growth cone (By similarity). Contributes to proper cell branching during endothelial and neuronal development (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0008568 microtubule severing ATPase activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005938 cell cortex;GO:0031252 cell leading edge", "go_biological_process": "GO:1903690 negative regulation of wound healing, spreading of epidermal cells;GO:0051013 microtubule severing;GO:0030336 negative regulation of cell migration;GO:0001763 morphogenesis of a branching structure;GO:0048681 negative regulation of axon regeneration", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6NMB9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14842-1", "uniprot_id": [ { "id": "FFAR1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14842", "type": "external" } ], "mass": 31457.0, "length": 300, "protein_name": "Free fatty acid receptor 1", "gene_name": "FFAR1", "organism": "Human", "refseq_name": "free fatty acid receptor 1", "refseq_ac": [ { "id": "NP_005294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005294", "type": "external" } ], "gene_names_uniprotkb": "FFAR1; GPR40", "gene_names_refseq": "FFA1R; FFAR1; GPCR40; GPR40", "protein_names_uniprotkb": "Free fatty acid receptor 1; G protein-coupled receptor 40", "protein_names_refseq": "G-protein coupled receptor 40; free fatty acid receptor 1", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2864); (R-HSA-381771); (R-HSA-400511); (R-HSA-416476); (R-HSA-434316); (R-HSA-444209)", "pathway_count": 6, "publication_count": 96, "publication_id_list": "10191087;10366038;10567430;10727532;10861009;11015615;11564718;11588141;11742120;11753430;11978683;12120503;12496283;12496284;12540594;12565875;12629551;12651102;12810581;14719035;14719797;1499644;15126524;15448129;15584901;15606695;15619630;15914509;15951850;16081037;16182515;16219666;16242307;16268778;16289108;16339447;16728727;16754659;16923326;17065399;17095603;17101212;17130640;17395749;17681422;17699519;17900700;17962409;18202141;18434541;1846707;18515384;18519800;18577758;18593849;18606873;18827341;18936096;19001044;1905813;19068482;19212142;19398560;19401434;19758793;21570468;21712392;23809162;24130766;24742677;25043059;28218747;2841328;2890159;29695780;30828317;3086311;32121640;33912179;34357683;35051231;35061031;35065200;36309079;37914321;3841689;3900195;7883856;7937899;8100523;8428636;8664309;8798518;9305846;9344866;9770463", "class_list": "", "function": "Free fatty acids regulate insulin secretion from pancreatic beta cells through GPR40, [RefSeq, PubMed]; G protein-coupled receptor for medium and long chain saturated and unsaturated fatty acids that plays an important role in glucose homeostasis. Fatty acid binding increases glucose-stimulated insulin secretion, and may also enhance the secretion of glucagon-like peptide 1 (GLP-1). May also play a role in bone homeostasis; receptor signaling activates pathways that inhibit osteoclast differentiation (By similarity). Ligand binding leads to a conformation change that triggers signaling via G proteins that activate phospholipase C, leading to an increase of the intracellular calcium concentration. Seems to act through a G(q) and G(i)-mediated pathway. Mediates the anti-inflammatory effects of omega-3 polyunsaturated fatty acids (PUFAs) via inhibition of NLRP3 inflammasome activation., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; GPR40 Activation Abolishes Diabetes-Induced Painful Neuropathy by Suppressing VEGF-A Expression., [RefSeq, PubMed]; Ginseng Gintonin Contains Ligands for GPR40 and GPR55. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation of putative phosphorylation sites in the free fatty acid receptor 1: Effects on signaling, receptor phosphorylation, and internalization., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Oncogenic signaling of the free-fatty acid receptors FFA1 and FFA4 in human breast carcinoma cells. Review article, [RefSeq, PubMed]; This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]., [RefSeq]; [The involvement of brain fatty acid-GPR40/FFAR1 signaling in the stress-induced chronic pain]. Review article, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q0VAS2;Q4VBL4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008289 lipid binding;GO:0045125 bioactive lipid receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0032024 positive regulation of insulin secretion;GO:0032691 negative regulation of interleukin-1 beta production;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "O14842-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14843-1", "uniprot_id": [ { "id": "FFAR3_HUMAN", "url": "https://www.uniprot.org/uniprot/O14843", "type": "external" } ], "mass": 38649.0, "length": 346, "protein_name": "Free fatty acid receptor 3", "gene_name": "FFAR3", "organism": "Human", "refseq_name": "free fatty acid receptor 3", "refseq_ac": [ { "id": "NP_005295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005295", "type": "external" } ], "gene_names_uniprotkb": "FFAR3; GPR41", "gene_names_refseq": "FFA3R; FFAR3; GPR41", "protein_names_uniprotkb": "Free fatty acid receptor 3; G protein-coupled receptor 41", "protein_names_refseq": "G-protein coupled receptor 41; free fatty acid receptor 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:2865); (R-HSA-416476); (R-HSA-444209)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11742120;11753430;12120503;12496283;12496284;12711604;15951850;16182515;16268778;16339447;16754659;16923326;18434541;18515384;18577758;18801738;18936096;1905813;19630535;21518883;21712392;23066016;2841328;3086311;31844290;33020504;35408893;35628613;7937899;8664309;9305846;9344866;9770463", "class_list": "", "function": "Characterization of GP41 in human tissue as a receptor for short chain fatty acids, [RefSeq, PubMed]; FFA2-, but not FFA3-agonists inhibit GSIS of human pseudoislets: a comparative study with mouse islets and rat INS-1E cells. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha family of G proteins. Its activation results in the formation of inositol 1,4,5-trisphosphate, the mobilization of intracellular calcium, the phosphorylation of the MAPK3/ERK1 and MAPK1/ERK2 kinases and the inhibition of intracellular cAMP accumulation (PubMed:12711604). Activated by SCFAs and by beta-hydroxybutyrate, a ketone body produced by the liver upon starvation, it inhibits N-type calcium channels and modulates the activity of sympathetic neurons through a signaling cascade involving the beta and gamma subunits of its coupled G protein, phospholipase C and MAP kinases. Thereby, it may regulate energy expenditure through the control of the sympathetic nervous system that controls for instance heart rate. Upon activation by SCFAs accumulating in the intestine, it may also signal to the brain via neural circuits which in turn would regulate intestinal gluconeogenesis. May also control the production of hormones involved in whole-body energy homeostasis. May for instance, regulate blood pressure through renin secretion. May also regulate secretion of the PYY peptide by enteroendocrine cells and control gut motility, intestinal transit rate, and the harvesting of energy from SCFAs produced by gut microbiota. May also indirectly regulate the production of LEP/Leptin, a hormone acting on the CNS to inhibit food intake, in response to the presence of short-chain fatty acids in the intestine. Finally, may also play a role in glucose homeostasis. Besides its role in energy homeostasis, may play a role in intestinal immunity. May mediate the activation of the inflammatory and immune response by SCFAs in the gut, regulating the rapid production of chemokines and cytokines by intestinal epithelial cells. Among SCFAs, the fatty acids containing less than 6 carbons, the most potent activators are probably propionate, butyrate and pentanoate while acetate is a poor activator (PubMed:12496283, PubMed:12711604)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Genetic Inactivation of Free Fatty Acid Receptor 3 Impedes Behavioral Deficits and Pathological Hallmarks in the APPswe Alzheimer's Disease Mouse Model. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of G-Protein Signaling-4 Attenuates Cardiac Adverse Remodeling and Neuronal Norepinephrine Release-Promoting Free Fatty Acid Receptor FFAR3 Signaling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RWM8;Q14CM7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0014061 regulation of norepinephrine secretion;GO:0032722 positive regulation of chemokine production", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "O14843-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60258-1", "uniprot_id": [ { "id": "FGF17_HUMAN", "url": "https://www.uniprot.org/uniprot/O60258", "type": "external" } ], "mass": 24891.0, "length": 216, "protein_name": "Fibroblast growth factor 17", "gene_name": "FGF17", "organism": "Human", "refseq_name": "fibroblast growth factor 17 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001291407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291407", "type": "external" } ], "gene_names_uniprotkb": "FGF17; PRO187", "gene_names_refseq": "FGF-13; FGF-17; FGF17; HH20", "protein_names_uniprotkb": "Fibroblast growth factor 17; FGF-17", "protein_names_refseq": "fibroblast growth factor 17 isoform 2 precursor", "tax_id": 9606, "disease": "primary bacterial infectious disease (Disease Ontology:DOID:0050338); primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); autism spectrum disorder (Disease Ontology:DOID:0060041); pre-malignant neoplasm (Disease Ontology:DOID:0060071); preaxial polydactyly II (Disease Ontology:DOID:0060986); esophageal atresia/tracheoesophageal fistula (Disease Ontology:DOID:0080171); Parkinsonism (Disease Ontology:DOID:0080855); hypogonadotropic hypogonadism 20 with or without anosmia (Disease Ontology:DOID:0090082); holoprosencephaly 3 (Disease Ontology:DOID:0110875); solitary median maxillary central incisor (Disease Ontology:DOID:0111380); hypoplastic or aplastic tibia with polydactyly (Disease Ontology:DOID:0111564); syndactyly type 4 (Disease Ontology:DOID:0111818); Hirschsprung's disease (Disease Ontology:DOID:10487); stomach cancer (Disease Ontology:DOID:10534); membranous glomerulonephritis (Disease Ontology:DOID:10976); polydactyly (Disease Ontology:DOID:1148); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); biliary atresia (Disease Ontology:DOID:13608); hypothyroidism (Disease Ontology:DOID:1459); VACTERL association (Disease Ontology:DOID:14679); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); nevoid basal cell carcinoma syndrome (Disease Ontology:DOID:2512); basal cell carcinoma (Disease Ontology:DOID:2513); IgA glomerulonephritis (Disease Ontology:DOID:2986); temporal lobe epilepsy (Disease Ontology:DOID:3328); middle cerebral artery infarction (Disease Ontology:DOID:3525); holoprosencephaly (Disease Ontology:DOID:4621); myocardial infarction (Disease Ontology:DOID:5844); chronic kidney disease (Disease Ontology:DOID:784); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); colorectal cancer (Disease Ontology:DOID:9256); ocular hypertension (Disease Ontology:DOID:9282)", "pathway": " (hsa:8822)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12975309;16597617;20094046;21700882;23643382;34731724;37217939;6881209;9514906", "class_list": "glycogene", "function": "FGF10/FGF17 as prognostic and drug response markers in acute myeloid leukemia., [RefSeq, PubMed]; FGF17 and IL17RD prpopsed as the two top candidates in the entire proteome on the basis of a statistical test of their protein-protein interaction patterns to proteins known to be altered in congenital hypogonadotropic hypogonadism., [RefSeq, PubMed]; Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development., [UniProtKB, PubMed]; This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 225, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 33, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7ZLG4;Q2M2W1", "ec_number_list": [], "go_molecular_function": "GO:0005105 type 1 fibroblast growth factor receptor binding;GO:0008083 growth factor activity;GO:0005111 type 2 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0007399 nervous system development;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "O60258-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7T7-1", "uniprot_id": [ { "id": "FMAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7T7", "type": "external" } ], "mass": 38799.0, "length": 363, "protein_name": "Putative uncharacterized protein FRMD6-AS1", "gene_name": "FRMD6-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FRMD6-AS1; C14orf82", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FRMD6-AS1; FRMD6 antisense RNA 1; FRMD6 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "31492838;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0C7T7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36888-1", "uniprot_id": [ { "id": "FLT3_HUMAN", "url": "https://www.uniprot.org/uniprot/P36888", "type": "external" } ], "mass": 112903.0, "length": 993, "protein_name": "Receptor-type tyrosine-protein kinase FLT3", "gene_name": "FLT3", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein kinase FLT3 1 isoform precursor", "refseq_ac": [ { "id": "NP_004110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004110", "type": "external" } ], "gene_names_uniprotkb": "FLT3; CD135; FLK2; STK1", "gene_names_refseq": "CD135; FLK-2; FLK2; FLT3; STK1", "protein_names_uniprotkb": "Receptor-type tyrosine-protein kinase FLT3; 2.7.10.1; FL cytokine receptor; FLK-2; FLT-3; Fetal liver kinase-2; Fms-like tyrosine kinase 3; STK-1; Stem cell tyrosine kinase 1", "protein_names_refseq": "CD135 antigen; FL cytokine receptor; fetal liver kinase 2; fms related tyrosine kinase 3; fms-like tyrosine kinase 3; growth factor receptor tyrosine kinase type III; receptor-type tyrosine-protein kinase FLT3 1 isoform precursor; receptor-type tyrosine-protein kinase FLT3; stem cell tyrosine kinase 1", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); acute myelomonocytic leukemia (Disease Ontology:DOID:0081082); prostate cancer (Disease Ontology:DOID:10283); Parkinson's disease (Disease Ontology:DOID:14330); cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305); bipolar disorder (Disease Ontology:DOID:3312); myelofibrosis (Disease Ontology:DOID:4971); nephrolithiasis (Disease Ontology:DOID:585); hepatocellular carcinoma (Disease Ontology:DOID:684); acute myeloid leukemia (Disease Ontology:DOID:9119); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:2322); (R-HSA-109704); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-9607240); (R-HSA-9645135); (R-HSA-9702509); (R-HSA-9702518); (R-HSA-9702569); (R-HSA-9702577); (R-HSA-9702581); (R-HSA-9702590); (R-HSA-9702596); (R-HSA-9702600); (R-HSA-9702605); (R-HSA-9702614); (R-HSA-9702620); (R-HSA-9702624); (R-HSA-9702632); (R-HSA-9702636); (R-HSA-9702998); (R-HSA-9703009); (R-HSA-9703648); (R-HSA-9706369); (R-HSA-9706374); (R-HSA-9706377)", "pathway_count": 28, "publication_count": 273, "publication_id_list": "10.1101/2023.09.13.557529;10080542;10102273;10191262;10323868;10482988;10508167;10698507;10783894;10869344;11027663;11090077;11094066;11136978;11147812;11237011;11290608;11313946;11442493;11466336;11546808;11702783;11803464;11971190;12024036;12032311;12094235;12121613;12124172;12167717;12351406;12468433;12660731;12767043;12796379;12951584;12969963;1325671;1381348;14504097;14506247;14707138;14759363;14981546;14984498;15003515;15178581;15256420;15345593;15356145;1545823;15498859;15546878;15625552;15626738;15718470;15831474;15834429;15976757;16150941;16266983;16320249;16339315;16410449;16456541;16627759;16647110;16684964;16847462;16868253;16990784;17110436;1716764;17200115;17254966;17344846;17356133;17446348;17475912;17626883;17668209;17998941;18068628;18079394;18192505;18305215;18317450;18391968;18483393;18490735;18594509;18606717;18698078;18754654;18755892;18775330;18787071;18829560;18925875;1898771;18987736;19064725;19185485;19276253;19279408;19318574;19369195;19411071;19438505;19477218;19541823;19549778;19576174;19644473;19805105;19920141;19962665;20019052;2004790;20111072;20231295;20338997;20478380;20508617;20520641;20522708;20713702;21067588;21072051;21102635;21188471;21262971;21317208;21368164;21372320;21389326;21471285;21478295;21516120;21552520;21668414;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22354205;22411868;22438257;22504184;22569528;22588880;22589270;22750304;22802530;22858906;22942183;22952242;23103841;23168613;23246379;23300935;23303910;23392356;23430109;23443682;23548639;23575685;23707526;23878140;23969938;24040307;24227820;24408321;24525236;24608088;24705897;24897931;24937142;25060518;25108079;25219551;25286697;25418920;25640477;25781681;25847190;25892735;26085527;26108694;26308771;26515730;26601252;26716518;26848862;26891877;26895103;27256702;27408351;27458164;27666490;28077790;28086240;28271164;28516360;28522571;28576946;28611190;28778966;28851395;29062038;29164965;29309929;29632711;29769354;29880609;29964125;30332834;30524438;30552988;30651634;30862120;31066629;31135801;31291378;31395582;31606550;32040554;32387766;32488085;32938616;33363015;33391463;33392160;33968037;34509645;35051231;35339838;38625438;38775115;38811818;39246183;6148751;7507245;7543144;7637810;7692230;7744773;7809086;7935463;7972015;8052307;8145851;8394751;8394845;8479541;8493579;8637232;8645157;8657148;8665852;8710374;8939933;8946930;9604935;9736715;9737679;9895304;9918857;9927426", "class_list": "", "function": "Advances in the pathogenesis of FLT3 -mutated acute myeloid leukemia and targeted treatments. Review article, [RefSeq, PubMed]; Current knowledge about FLT3 gene mutations, exploring the isoforms, and protein importance in AML. Review article Publication Status: Online-Only, [RefSeq, PubMed]; FLT3-ITD regulation of the endoplasmic reticulum functions in acute myeloid leukemia., [RefSeq, PubMed]; Inhibition of NOTCH4 sensitizes FLT3/ITD acute myeloid leukemia cells to FLT3 tyrosine kinase inhibition., [RefSeq, PubMed]; This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]., [RefSeq]; Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, and activation of the downstream effector MTOR. Promotes activation of RAS signaling and phosphorylation of downstream kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation of FES, FER, PTPN6/SHP, PTPN11/SHP-2, PLCG1, and STAT5A and/or STAT5B. Activation of wild-type FLT3 causes only marginal activation of STAT5A or STAT5B. Mutations that cause constitutive kinase activity promote cell proliferation and resistance to apoptosis via the activation of multiple signaling pathways., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 28, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 94, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A0AVG9;B7ZLT7;B7ZLT8;F5H0A0;Q13414", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0019838 growth factor binding;GO:0035259 nuclear glucocorticoid receptor binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0010008 endosome membrane;GO:0016020 membrane", "go_biological_process": "GO:0002318 myeloid progenitor cell differentiation;GO:0002328 pro-B cell differentiation;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 28.2, "record_id": "P36888-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36980-1", "uniprot_id": [ { "id": "FHR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P36980", "type": "external" } ], "mass": 30651.0, "length": 270, "protein_name": "Complement factor H-related protein 2", "gene_name": "CFHR2", "organism": "Human", "refseq_name": "complement factor H-related protein 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001299601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299601", "type": "external" } ], "gene_names_uniprotkb": "CFHR2; CFHL2; FHR2; HFL3", "gene_names_refseq": "CFHL2; CFHR2; FHR2; HFL3", "protein_names_uniprotkb": "Complement factor H-related protein 2; DDESK59; FHR-2; H factor-like 3; H factor-like protein 2", "protein_names_refseq": "DDESK59; FHR-2; H factor (complement)-like 3; complement factor H-related protein 2 isoform 2 precursor; factor H-related gene 2; h factor-like 3; h factor-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:3080); (R-HSA-977606)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10531307;1067618;11237011;11694537;11939578;12055245;1386357;1533657;16079145;16192651;16999828;17182573;17505110;19159218;21788512;22802338;23090970;23487775;2420889;2465906;2466593;2481448;27196323;27306586;27600516;27726376;293688;293746;29557506;2956252;29632711;29671580;2971659;29741879;301546;32157095;32983136;34087483;34260947;3848661;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7672821;7690834;7691959;8172644;8345200;8495193;8786315;9038722;978134", "class_list": "", "function": "Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration., [RefSeq, PubMed]; Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR2], [RefSeq, PubMed]; Studies indicate an association between CFHR2-rs2986127 and acute anterior uveitis (AAU) diagnosis., [RefSeq, PubMed]; This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14310;Q5T9T1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0001851 complement component C3b binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0032991 protein-containing complex", "go_biological_process": "GO:0032091 negative regulation of protein binding;GO:0051838 cytolysis by host of symbiont cells;GO:0006956 complement activation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P36980-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02985-1", "uniprot_id": [ { "id": "FHR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02985", "type": "external" } ], "mass": 37323.0, "length": 330, "protein_name": "Complement factor H-related protein 3", "gene_name": "CFHR3", "organism": "Human", "refseq_name": "complement factor H-related protein 3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001160096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001160096", "type": "external" } ], "gene_names_uniprotkb": "CFHR3; CFHL3; FHR3", "gene_names_refseq": "CFHL3; CFHR3; DOWN16; FHR-3; FHR3; HLF4", "protein_names_uniprotkb": "Complement factor H-related protein 3; DOWN16; FHR-3; H factor-like protein 3", "protein_names_refseq": "H factor-like 4; H factor-like protein 3; complement factor H-related protein 3 isoform 2 precursor; complement factor H-related protein 3", "tax_id": 9606, "disease": "atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); age related macular degeneration 1 (Disease Ontology:DOID:0110014); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); hemolytic uremic syndrome, atypical, susceptibility to, 1 (MONDO:MONDO:0009335)", "pathway": " (hsa:10878); (R-HSA-977606)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10531307;1067618;10781834;11694537;11939578;12055245;1386357;16079145;16192651;16999828;17182573;17367211;17505110;18006700;19159218;21788512;22802338;23090970;23487775;2420889;2465906;2466593;2481448;293688;293746;29391424;29557506;2956252;29671580;2971659;29741879;301546;35494241;36007525;36091034;36793547;37032353;37074911;3848661;38524137;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8172644;8345200;8428964;8495193;8786315;9038722;978134", "class_list": "", "function": "Anti-factor H antibody and its role in atypical hemolytic uremic syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome. Publication Status: Online-Only, [RefSeq, PubMed]; Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication. Publication Status: Online-Only, [RefSeq, PubMed]; Might be involved in complement regulation., [UniProtKB]; The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases., [RefSeq, PubMed]; The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 35, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DPR0;Q9UJ16", "ec_number_list": [], "go_molecular_function": "GO:0001851 complement component C3b binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0006956 complement activation", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q02985-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q494R0-1", "uniprot_id": [ { "id": "FBAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q494R0", "type": "external" } ], "mass": 13218.0, "length": 122, "protein_name": "Putative uncharacterized protein FBXL19-AS1", "gene_name": "FBXL19-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FBXL19-AS1; NCRNA00095", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FBXL19-AS1; FBXL19 antisense RNA 1; FBXL19 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "28228285", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3KR42;Q8NAQ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q494R0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5FWF7-1", "uniprot_id": [ { "id": "FBX48_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5FWF7", "type": "external" } ], "mass": 18241.0, "length": 155, "protein_name": "F-box only protein 48", "gene_name": "FBXO48", "organism": "Human", "refseq_name": "F-box only protein 48", "refseq_ac": [ { "id": "NP_001019851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019851", "type": "external" } ], "gene_names_uniprotkb": "FBXO48; FBX48", "gene_names_refseq": "FBXO48", "protein_names_uniprotkb": "F-box only protein 48; F-box protein 48", "protein_names_refseq": "F-box only protein 48", "tax_id": 9606, "disease": "", "pathway": " (hsa:554251)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "23485738;35051231", "class_list": "", "function": "Mutations in the coding region of the FBXO48 gene play little or no role in the development of Parkinson diseases., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5FWF7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JSP0-1", "uniprot_id": [ { "id": "FGD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JSP0", "type": "external" } ], "mass": 79401.0, "length": 725, "protein_name": "FYVE, RhoGEF and PH domain-containing protein 3", "gene_name": "FGD3", "organism": "Human", "refseq_name": "FYVE, RhoGEF and PH domain-containing protein 3 isoform a", "refseq_ac": [ { "id": "NP_001077005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077005", "type": "external" } ], "gene_names_uniprotkb": "FGD3; ZFYVE5", "gene_names_refseq": "FGD3; ZFYVE5", "protein_names_uniprotkb": "FYVE, RhoGEF and PH domain-containing protein 3; Zinc finger FYVE domain-containing protein 5", "protein_names_refseq": "FGD1 family, member 3; FYVE, RhoGEF and PH domain-containing protein 3 isoform a; FYVE, RhoGEF and PH domain-containing protein 3; faciogenital dysplasia 3; zinc finger FYVE domain-containing protein 5", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 4H (Disease Ontology:DOID:0110192); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); X-linked Aarskog syndrome (Disease Ontology:DOID:6683)", "pathway": " (hsa:89846); (R-HSA-193648); (R-HSA-416482); (R-HSA-9013148)", "pathway_count": 4, "publication_count": 278, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11742120;11756498;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12195014;12221096;12351724;12432077;12433842;12464619;12515866;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;14673001;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15470142;15485661;15601624;15611138;15699075;15728722;15749160;15850391;15897194;15951850;16112081;16116428;16184169;16212495;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16923326;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18088087;18218625;18363964;18374420;18426980;18577758;18653540;18786931;18835169;18838382;18929667;19212140;19605563;19690332;19934221;20058876;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22424782;22461490;22571869;22608513;22661716;22970203;23186163;23200924;23255595;23406282;23434736;23481700;23572525;23718289;24086303;24259668;24335996;24352656;24584464;24715725;24933155;24996924;25024229;25211221;25414122;25418920;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26375851;26529257;26598554;26887924;26992070;27072905;27096001;27145964;27216196;27481945;27543614;27555588;27798618;27862975;27920218;28028151;28196833;28218747;28228285;28825699;28832583;28834231;28860189;28860633;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30007591;30061681;30315122;30429286;30524438;30853411;31645624;31844290;31871319;32203420;32265295;32357974;32387766;32502341;32897882;32983136;33123756;33141586;33298915;33392160;33912179;33936100;33968037;33981976;34087483;34185709;34509645;34561969;35051231;35561310;35580925;36284347;37217939;37938771;7479768;7512369;7673236;7721814;7753201;7937899;8021274;8537347;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9308960;9405671;9438849;9490638;9497316;9520479;9659915;9670022;9796816;9829970;9843499;9846874", "class_list": "", "function": "Expression of FGD3 gene as prognostic factor in young breast cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes the formation of filopodia. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "F8W7P2;Q4VX84;Q7Z7D9;Q8N5G1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0030027 lamellipodium", "go_biological_process": "GO:0043087 regulation of GTPase activity;GO:0046847 filopodium assembly;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030036 actin cytoskeleton organization;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 28.1, "record_id": "Q5JSP0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VT28-1", "uniprot_id": [ { "id": "FAM27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VT28", "type": "external" } ], "mass": 7388.0, "length": 67, "protein_name": "Protein FAM27A/B/C", "gene_name": "FAM27B; FAM27C", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM27B; FAM27C; FAM27A1; FAM27A2; FAM27A3; FAM27A", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein FAM27A/B/C", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "29242379;32561536", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5VT28-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969P5-1", "uniprot_id": [ { "id": "FBX32_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969P5", "type": "external" } ], "mass": 41637.0, "length": 355, "protein_name": "F-box only protein 32", "gene_name": "FBXO32", "organism": "Human", "refseq_name": "F-box only protein 32 isoform 3", "refseq_ac": [ { "id": "NP_001229392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229392", "type": "external" } ], "gene_names_uniprotkb": "FBXO32", "gene_names_refseq": "FBXO32; Fbx32; MAFbx", "protein_names_uniprotkb": "F-box only protein 32; Atrogin-1; MAFbx; Muscle atrophy F-box protein", "protein_names_refseq": "F-box only protein 32 isoform 3; F-box only protein 32; atrogin 1; muscle atrophy F-box protein", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); primary pulmonary hypertension (Disease Ontology:DOID:14557); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:114907); (R-HSA-8951664); (R-HSA-9615017); (R-HSA-983168)", "pathway_count": 4, "publication_count": 189, "publication_id_list": "10102273;10217147;10358014;10480625;10535940;10597293;10811609;10878807;10913147;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11679633;11733065;11779849;11961546;12101228;12186903;12239572;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15531760;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16507768;16547496;16595681;16647857;16707496;16783365;16790436;16840535;16849449;16868939;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17478621;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20112406;21447816;21463634;21536589;21778237;21863050;21940857;22249105;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24028821;24040102;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25645385;26154972;26344709;26460955;26632597;26753747;26768247;26906416;27030794;27222660;27547294;27565346;27600516;27846572;27920218;28115426;28904123;29153394;29242379;29493099;29557506;29786170;30379171;30610225;31154438;31844290;31848261;32005965;32157095;32161166;32284348;32387766;32488085;32897882;32938616;33109704;33298915;33444648;33592498;33968037;34087483;34171305;34405274;34509645;35051231;35318648;35580925;36010968;36215666;36284347;37175415;37227155;38643215;38775804;40307251;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Atrogin-1 mRNA expression was significantly increased in quadriceps of patients with COPD; transcriptional regulation of atrogin-1 and MuRF1 may occur via FoxO-1, but independently of AKT, [RefSeq, PubMed]; FBXO32 Stimulates Protein Synthesis to Drive Pancreatic Cancer Progression and Metastasis., [RefSeq, PubMed]; FBXO32-mediated degradation of PTEN promotes lung adenocarcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; Human skeletal muscle atrophy in the amyotrophic lateral sclerosis shows an increase in atrogin-1 & a decrease in Akt. The transcriptional regulation of human atrogin-1 may be controlled by an Akt-mediated transcription factor other than FKHR., [RefSeq, PubMed]; Promotive Effect of FBXO32 on the Odontoblastic Differentiation of Human Dental Pulp Stem Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that Cbl-b- or atrogin-1-mediated ubiquitination plays an important role in unloading-induced muscle atrophy, and that unloading stress may preferentially inhibit transcriptional responses in skeletal muscle, [RefSeq, PubMed]; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins during skeletal muscle atrophy. Recognizes TERF1. Negatively regulates macrophage efferocytosis by promoting the ubiquitination of the transcription factor KLF4, suppressing the receptor tyrosine kinase MERTK transcription (By similarity). Regulates LPS-induced apoptosis and mitochondrial dysfunction through ANXA1 ubiquitination and degradation (By similarity). Mediates cyclin D1 protein stabilization via 'Lys-27'-linked ubiquitination (PubMed:40307251)., [UniProtKB, PubMed, PubMed, UniProtKB]; The FBXO32/ATR/ATM axis acts as a molecular switch to control the sensitivity of osteosarcoma cells to irradiation through its regulation of EXO1 expression., [RefSeq, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4KYM0", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0014894 response to denervation involved in regulation of muscle adaptation;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;GO:0062026 negative regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "Q969P5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14331-1", "uniprot_id": [ { "id": "FRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14331", "type": "external" } ], "mass": 29172.0, "length": 258, "protein_name": "Protein FRG1", "gene_name": "FRG1", "organism": "Human", "refseq_name": "protein FRG1", "refseq_ac": [ { "id": "NP_004468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004468", "type": "external" } ], "gene_names_uniprotkb": "FRG1", "gene_names_refseq": "FRG1A; FRG1; FSG1", "protein_names_uniprotkb": "Protein FRG1; FSHD region gene 1 protein", "protein_names_refseq": "FSHD region gene 1 protein; facioscapulohumeral muscular dystrophy region gene-1; protein FRG1", "tax_id": 9606, "disease": "facioscapulohumeral muscular dystrophy 1 (Disease Ontology:DOID:0111192); facioscapulohumeral muscular dystrophy (Disease Ontology:DOID:11727)", "pathway": " (hsa:2483)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "10512680;11237011;11991638;15060122;16341202;17103222;20970242;21699900;22898188;23301498;23720823;24715725;25418920;25576301;26375851;26758079;26992070;27846572;28063628;28228285;28832583;28834231;28860189;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30779550;30975102;31154438;31222486;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34561969;34795329;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37217939;37938771;39169067;8733123", "class_list": "", "function": "Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; FRG1 expression is reduced in prostate adenocarcinoma tissue. FRG1 expression affects migration and invasion in AR negative prostate cancer cells through known MMPs and cytokines, which may be mediated primarily via p38 MAPK activation. Publication Status: Online-Only, [RefSeq, PubMed]; Role of FRG1 in predicting the overall survivability in cancers using multivariate based optimal model. Publication Status: Online-Only, [RefSeq, PubMed]; This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]., [RefSeq]; Unveiling FRG1's DNA repair role in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K775", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0030018 Z disc;GO:0015030 Cajal body;GO:0071013 catalytic step 2 spliceosome;GO:0055120 striated muscle dense body", "go_biological_process": "GO:0007517 muscle organ development;GO:0000398 mRNA splicing, via spliceosome;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q14331-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53GS7-1", "uniprot_id": [ { "id": "GLE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53GS7", "type": "external" } ], "mass": 79836.0, "length": 698, "protein_name": "mRNA export factor GLE1", "gene_name": "GLE1", "organism": "Human", "refseq_name": "mRNA export factor GLE1 isoform 1", "refseq_ac": [ { "id": "NP_001003722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003722", "type": "external" } ], "gene_names_uniprotkb": "GLE1; GLE1L", "gene_names_refseq": "CAAHC; CAAHD; GLE1L; GLE1; LCCS1; LCCS; hGLE1", "protein_names_uniprotkb": "mRNA export factor GLE1; GLE1 RNA export mediator; GLE1-like protein; Nucleoporin GLE1; hGLE1", "protein_names_refseq": "GLE1 RNA export mediator homolog; GLE1-like protein; GLE1-like, RNA export mediator; mRNA export factor GLE1 isoform 1; mRNA export factor GLE1; nucleoporin GLE1", "tax_id": 9606, "disease": "lethal congenital contracture syndrome (Disease Ontology:DOID:0060558); lethal congenital contracture syndrome 1 (Disease Ontology:DOID:0060559); lethal arthrogryposis-anterior horn cell disease syndrome (MONDO:MONDO:0012750)", "pathway": " (hsa:2733); (R-HSA-159236)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10228171;10323864;10489353;10668806;11073998;11237011;11256625;11259411;11259602;11579093;11739738;11756420;12093754;12668658;14645504;16000379;16314397;17000901;18204449;18364396;18411249;18423201;19690332;19691289;20068231;20129943;22424782;22893130;23186163;23299939;23481700;23826332;24029068;24366607;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32502341;32755435;32897882;32938616;32954510;32981894;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34561969;34932366;35051231;35580925;36010968;36215666;36241641;37801910;37938771;9618489;9660949", "class_list": "", "function": "Biallelic variants in GLE1 with survival beyond neonatal period., [RefSeq, PubMed]; Functions of Gle1 are governed by two distinct modes of self-association., [RefSeq, PubMed]; Nucleocytoplasmic shuttling of Gle1 impacts DDX1 at transcription termination sites., [RefSeq, PubMed]; Phosphorylation impacts GLE1 nuclear localization and association with DDX1., [RefSeq, PubMed]; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75458;Q53GT9;Q5VVU1;Q8NCP6;Q9UFL6", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0042802 identical protein binding;GO:0000822 inositol hexakisphosphate binding;GO:0031369 translation initiation factor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006406 mRNA export from nucleus;GO:0006913 nucleocytoplasmic transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q53GS7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62318-1", "uniprot_id": [ { "id": "SMD3_HUMAN", "url": "https://www.uniprot.org/uniprot/P62318", "type": "external" } ], "mass": 13916.0, "length": 126, "protein_name": "Small nuclear ribonucleoprotein Sm D3", "gene_name": "SNRPD3", "organism": "Human", "refseq_name": "small nuclear ribonucleoprotein Sm D3", "refseq_ac": [ { "id": "NP_001265585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265585", "type": "external" } ], "gene_names_uniprotkb": "SNRPD3", "gene_names_refseq": "SMD3; SNRPD3; Sm-D3", "protein_names_uniprotkb": "Small nuclear ribonucleoprotein Sm D3; Sm-D3; snRNP core protein D3", "protein_names_refseq": "small nuclear ribonucleoprotein D3 polypeptide 18kDa; small nuclear ribonucleoprotein Sm D3; snRNP core protein D3", "tax_id": 9606, "disease": "systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:6634); (R-HSA-111367); (R-HSA-191859); (R-HSA-72163); (R-HSA-72165); (R-HSA-73856); (R-HSA-77588); (R-HSA-9754678); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 11, "publication_count": 259, "publication_id_list": "10025403;10199952;10207048;10500148;10531003;10556282;10601333;10669729;10725331;10851237;10882114;11014198;11060040;11101529;11135666;11233976;11333016;11333026;11574479;11607023;11714716;11747608;11747828;11748230;11823543;11991638;12065586;12095920;12176931;12411573;12414731;12441251;12477934;12628254;12682017;12776181;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15084397;15146077;15565158;15647753;16263726;16314458;16314521;16372014;16809785;17095540;17128255;17332742;17433364;17606899;17709427;17717186;17940139;18042460;18288197;18322460;18593880;18984161;19052544;19054851;19103666;19165350;19217410;19325628;19536130;19838190;20112406;20211137;20305658;20423332;20695905;20980672;21295486;21362751;21516107;21536652;2176635;21911577;22046413;22110043;22121020;22365833;22569126;22645359;22722860;22813749;22922743;22959432;22961380;23222130;23236153;23345524;23481700;23874216;24076191;24149845;24196718;24304693;24366607;24448447;24715725;24737827;24914973;2524422;25301780;25301781;25418920;25555158;25576301;2558966;25645385;25892735;26092250;26154972;26375851;26385511;26420826;26811146;26912367;26929215;26969736;26992070;27108190;27377154;27459055;27510544;27600516;27661449;27683217;27920218;28062851;28076346;28096519;28228285;28502770;28510447;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29393594;29493099;29532871;29557506;29632046;2963332;29769354;29789417;29902443;30139799;30257008;30315122;30315277;30410026;30429286;30484775;30599162;30705154;30728453;30765414;30779550;30975767;31154438;31222486;31409651;31530632;31844290;31848261;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32494006;32680882;32816001;32908316;32938616;32983136;32995776;32995777;33080218;33123756;33177556;33188728;33214551;33243851;33268501;33392160;33446560;33479166;33509932;33537174;33592498;33691108;33912179;33936100;33968037;34019948;34087483;34093574;34185709;34301950;34315815;34357683;34373319;34561969;34624207;34725712;34822310;35051231;35177536;35215846;35251023;35385551;35561310;35580925;36010968;36241641;36284347;36610391;36797247;3757028;37938771;38321013;40930100;7527560;8196654;8566756;8608946;8835860;9016565;9049306;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9845364", "class_list": "", "function": "Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, PubMed:26912367, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:32494006). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:28781166). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932). As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DJP7;B5BU13;P43331", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0070034 telomerase RNA binding;GO:0071208 histone pre-mRNA DCP binding;GO:0071209 U7 snRNA binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0036261 7-methylguanosine cap hypermethylation;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0008380 RNA splicing;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0006479 protein methylation", "synthesized_glycan_count": 0, "hit_score": 26.2, "record_id": "P62318-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96E40-1", "uniprot_id": [ { "id": "SACA9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96E40", "type": "external" } ], "mass": 25166.0, "length": 222, "protein_name": "Sperm acrosome-associated protein 9", "gene_name": "SPACA9", "organism": "Human", "refseq_name": "sperm acrosome-associated protein 9 isoform a", "refseq_ac": [ { "id": "NP_001303826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303826", "type": "external" } ], "gene_names_uniprotkb": "SPACA9; C9orf9", "gene_names_refseq": "C9orf9; Mast; SPACA9", "protein_names_uniprotkb": "Sperm acrosome-associated protein 9", "protein_names_refseq": "Rsb66 homolog; sperm acrosome-associated protein 9 isoform a; sperm acrosome-associated protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:11092)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "21048031;26992070;28218747;28282151;29242379;29437277;29493099;30315122;31844290;32157095;32488085;33298915;33592498;33912179;35051231;35494241;36191189;36830681", "class_list": "", "function": "Loss of Tumor Suppressor C9orf9 Promotes Metastasis in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) of multiciliated respiratory cells and the distal singlet microtubules of monoflagellated spermatozoa (PubMed:36191189). Forms an extensive interaction network cross-linking the lumen of axonemal doublet microtubules (By similarity)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UGQ0", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0048306 calcium-dependent protein binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005634 nucleus;GO:0005829 cytosol;GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0035082 axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96E40-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PJG2-1", "uniprot_id": [ { "id": "MDEAS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PJG2", "type": "external" } ], "mass": 114989.0, "length": 1045, "protein_name": "Mitotic deacetylase-associated SANT domain protein", "gene_name": "MIDEAS", "organism": "Human", "refseq_name": "mitotic deacetylase-associated SANT domain protein isoform 1", "refseq_ac": [ { "id": "NP_001036783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036783", "type": "external" } ], "gene_names_uniprotkb": "MIDEAS; C14orf117; C14orf43; ELMSAN1", "gene_names_refseq": "C14orf117; C14orf43; ELMSAN1; LSR68; MIDEAS; c14_5541", "protein_names_uniprotkb": "Mitotic deacetylase-associated SANT domain protein; ELM2 and SANT domain-containing protein 1", "protein_names_refseq": "ELM2 and Myb/SANT domain containing 1; ELM2 and Myb/SANT-like domain containing 1; ELM2 and SANT domain-containing protein 1; mitotic deacetylase-associated SANT domain protein isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91748)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "11237011;17081983;18452278;18669648;19651622;19690332;20068231;21258344;21406692;21573134;23186163;23301498;23481700;24129315;24275569;24715725;25114211;25576301;25653165;26154972;26811146;26992070;27503676;27600516;27846572;27920218;28063628;28228285;28446606;28514659;28649982;28657654;28832583;28904123;29237092;29242379;29351928;29393594;29508533;29557506;29632046;29632711;30059200;30315122;30484775;31154438;31217245;31492838;31530632;31844290;31848261;32157095;32387766;32574038;32938616;32938750;32983136;33214551;33298915;33392160;33633747;33691108;33912179;33936100;33968037;34019948;34087483;34561969;34846842;35051231;35132862;35254053;35513511;35580925;36010968;36241641;37938771;38665916;38904247;39531497;39534244;40307207;40596516", "class_list": "", "function": "C14ORF43 (MIDEAS) is part of a mitotic deacetylase complex (MIDAC) formed in cell division with HDAC1/HDAC2 and DNTTIP1., [RefSeq, PubMed]; ELM2-SANT Domain-Containing Scaffolding Protein 1 Regulates Differentiation and Maturation of Cardiomyocytes Derived From Human-Induced Pluripotent Stem Cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q6PK13;Q6PK59;Q6ZS23", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003714 transcription corepressor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0006325 chromatin organization;GO:0045995 regulation of embryonic development", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q6PJG2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05106-1", "uniprot_id": [ { "id": "ITB3_HUMAN", "url": "https://www.uniprot.org/uniprot/P05106", "type": "external" } ], "mass": 87058.0, "length": 788, "protein_name": "Integrin beta-3", "gene_name": "ITGB3", "organism": "Human", "refseq_name": "integrin beta-3 precursor", "refseq_ac": [ { "id": "NP_000203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000203", "type": "external" } ], "gene_names_uniprotkb": "ITGB3; GP3A", "gene_names_refseq": "BDPLT16; BDPLT24; BDPLT2; CD61; FMAIT1; GP3A; GPIIIa; GT2; GT; ITGB3", "protein_names_uniprotkb": "Integrin beta-3; GPIIIa; Platelet membrane glycoprotein IIIa", "protein_names_refseq": "integrin beta 3; integrin beta chain, beta 3; integrin beta-3 precursor; integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61); platelet membrane glycoprotein IIIa", "tax_id": 9606, "disease": "non-arteritic anterior ischemic optic neuropathy (Disease Ontology:DOID:0050864); myelodysplastic syndrome (Disease Ontology:DOID:0050908); stroke (Disease Ontology:DOID:0051061); platelet-type bleeding disorder 16 (Disease Ontology:DOID:0060691); colorectal carcinoma (Disease Ontology:DOID:0080199); Hantavirus hemorrhagic fever with renal syndrome (Disease Ontology:DOID:11266); Graves' disease (Disease Ontology:DOID:12361); thrombocytopenia (Disease Ontology:DOID:1588); cancer (Disease Ontology:DOID:162); blood platelet disease (Disease Ontology:DOID:2218); Glanzmann's thrombasthenia (Disease Ontology:DOID:2219); transient cerebral ischemia (Disease Ontology:DOID:224); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); lung non-small cell carcinoma (Disease Ontology:DOID:3908); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); bacterial pneumonia (Disease Ontology:DOID:874); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); diabetic retinopathy (Disease Ontology:DOID:8947); acute myeloid leukemia (Disease Ontology:DOID:9119); bleeding disorder, platelet-type, 24 (MONDO:MONDO:0030996); Glanzmann thrombasthenia 2 (MONDO:MONDO:0031009); fetomaternal alloimmune thrombocytopenia 1 (MONDO:MONDO:0980723)", "pathway": " (hsa:3690); (R-HSA-114608); (R-HSA-1566948); (R-HSA-210990); (R-HSA-2129379); (R-HSA-216083); (R-HSA-2173789); (R-HSA-3000170); (R-HSA-3000178); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-4420097); (R-HSA-445144); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9769733); (R-HSA-9856532); (R-HSA-9860927)", "pathway_count": 24, "publication_count": 543, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10025398;10037737;10075701;10198291;10207622;10209034;10209122;10233432;10339611;10350061;10366422;10391209;10395673;10397733;10409742;10424889;10425179;10438935;10446041;10543983;10544250;10593924;10605720;10611478;10640428;10646116;10673326;10673366;10677529;10692392;10713152;10725339;10744763;10749680;10777559;10811134;10818153;10858437;10891492;10896934;10930463;10936461;10964917;10982388;11007481;11084047;11100470;11141505;11158588;11160695;11237011;11259413;11278486;11325826;11390472;11476890;11481325;11518510;11546839;11572855;11588040;11695992;11696015;11713259;11723131;11802164;11802165;11807098;11897046;11940607;11970960;11980922;12005431;12036875;12068308;12083483;12134158;12214271;12215529;12225811;12353082;12358597;12391143;12415008;12429738;12456642;12464388;12473660;12477717;12479806;12482908;12496264;12585966;12640026;12660731;12665801;12682293;12695522;12791772;12807887;12810700;12820653;12832465;12975610;1333888;1371279;1376317;1382574;1400330;1430225;1435334;1438206;14630798;14636584;14681059;14701737;14715956;14718570;14724572;14754902;14970219;14976204;15026417;15035987;15075323;15118098;15156152;15157149;15239952;15240572;15247219;15260967;15296743;15297306;15304325;15308668;15330449;15334074;15345499;15350224;15378069;15383545;1544908;15466936;15469846;15479743;15520807;15543157;15547943;15564041;15583747;15597056;15630448;15634267;15688067;15695828;15713743;15748237;15834425;1588291;15899827;15962004;15987363;16002701;16005629;1602006;16040750;16051604;16076873;16115959;16135787;16216233;16239428;16263699;16293224;16322781;16335952;16336962;16364920;16493581;16508002;16581250;16702958;16731529;16754661;16757337;16760434;16879721;16906757;16919435;16933105;16945929;16966330;16982628;17018604;17030947;1706596;1708799;17145850;17178906;17199126;17218263;1722201;17237347;17253643;17272505;1727907;17293873;17314405;17324935;17339034;17483156;17496912;17563371;17583734;17588949;17603482;17603483;17624957;17635696;17686471;17968485;18045938;18065693;18088087;18222703;18280240;18287029;18317590;18339631;18434644;18441324;18469808;18555990;18559533;18562239;18578522;18635536;18710925;18775695;18974108;19091303;19111664;19141530;19159218;19219045;19230644;19242111;19267251;19279408;19467855;19494351;19502598;1953640;19578119;19704023;19720988;19821948;19933846;2001252;20020534;20033473;20052757;2010551;20130576;20141835;20179705;20526349;2059554;20625381;20658524;20682778;20702409;20705068;20818844;20858867;21107323;21424530;21445309;2145280;21514245;21639808;21642437;21646718;21779496;21784453;21789315;21993244;22043453;22113612;22116617;22134916;22177953;22292133;22327215;22356324;22395615;22492581;22510884;22539938;22569528;22589270;22689825;22745804;22826437;22884367;2295682;23090970;23125415;23171796;23216836;23288408;23290524;23352452;23374253;2341395;23453624;2345548;23479567;23583981;23614898;23640497;2364322;23658209;23667175;23680146;23695678;23875798;2392682;23934108;23954936;24121058;2412224;24135138;24190977;2420006;24202393;2430969;24345920;24478423;2452834;24651010;24715725;24746704;24789099;24937142;24957944;25195011;25204415;25313996;25398877;25435214;25494608;2565345;25880248;25907612;26154972;26214590;26992070;27145276;27227380;27363989;2742826;27600516;27699233;27797339;27862975;2787511;27920218;27993971;28218747;28302677;28518345;2866798;28832583;28873464;28904123;28939558;29030430;29084015;29242379;29301984;29314611;29380037;29393594;29467321;29557506;2963012;29632711;29671580;29741879;29786170;29951051;30034615;30315122;30410026;30429286;30794926;31154438;31331973;31408443;3165296;31844290;31848261;31859394;32037480;32157095;32350084;32357974;32502341;32673515;3287375;32938616;33141586;33298915;33436497;33436498;33592498;33724573;33912179;34357683;34561969;34932366;3494014;35051231;35580925;35687021;36241641;37074911;37938771;3798869;38016540;3801670;38588407;38665916;38960036;39197621;39201327;39273058;39441936;6123066;6193777;6439184;6457647;7356959;7499434;7500359;7505120;7509446;7513017;7519807;7525578;7527058;7534784;7541634;7542249;7542669;7559467;7565670;7565795;7685013;7693660;7693733;7694683;7731720;7737999;7852349;7878622;7929275;7935411;7997267;8002934;8047140;8051079;8093349;8118028;8132570;8157000;8242743;8298129;8344274;8388392;8440685;8467233;8509458;8560266;8592152;8609172;8617235;8617364;8621540;8631894;8649368;8755247;8781422;8798654;8838667;8846042;8910476;8943283;8947046;8980228;8986718;9020159;9038151;9054388;9099726;9111081;9115237;9182576;9195946;9215749;9233797;9251239;9252349;9252369;9294172;9311995;9341124;9346959;9346966;9351824;9376589;9393975;9396761;9398617;9443892;9472046;9565552;9566877;9618541;9684783;9685393;9725916;9733512;9774457;9790984;9858236;9858547;9865696;9949188", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Hantaan virus., [UniProtKB, PubMed]; (Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGA5:ITGB3 acts as a receptor for Human metapneumovirus., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGAV:ITGB3 acts aP05556s a receptor for Human parechovirus 1., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Coxsackievirus A9., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Cytomegalovirus/HHV-5., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus., [UniProtKB, PubMed]; Acute contact with profibrotic macrophages mechanically activates fibroblasts via alphavbeta3 integrin-mediated engagement of Piezo1., [RefSeq, PubMed]; Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain (By similarity). Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen (PubMed:9111081). This step leads to rapid platelet aggregation which physically plugs ruptured endothelial surface. Fibrinogen binding enhances SELP expression in activated platelets (By similarity). ITGAV:ITGB3 binds to fractalkine (CX3CL1) and acts as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887). In brain, plays a role in synaptic transmission and plasticity. Involved in the regulation of the serotonin neurotransmission, is required to localize to specific compartments within the synapse the serotonin receptor SLC6A4 and for an appropriate reuptake of serotonin. Controls excitatory synaptic strength by regulating GRIA2-containing AMPAR endocytosis, which affects AMPAR abundance and composition (By similarity). ITGAV:ITGB3 act as a receptor for CD40LG (PubMed:31331973). ITGAV:ITGB3 acts as a receptor for IBSP and promotes cell adhesion and migration to IBSP (PubMed:10640428). Integrin ITGA2B:ITGB3 is also the receptor of the erythrocyte-specific ICAM4 ligand involved in heterotypic cell-cell adhesion between erythrocytes and activated platelets (PubMed:12477717)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Integrin alphavbeta3 Upregulation in Response to Nutrient Stress Promotes Lung Cancer Cell Metabolic Plasticity., [RefSeq, PubMed]; Role of TSP-1 and its receptor ITGB3 in the renal tubulointerstitial injury of focal segmental glomerulosclerosis., [RefSeq, PubMed]; Targeting ITGbeta3 to Overcome Trastuzumab Resistance through Epithelial-Mesenchymal Transition Regulation in HER2-Positive Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]., [RefSeq]; The Role of alphavbeta3 Integrin in Lamina Cribrosa Cell Mechanotransduction in Glaucoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 6, "reported_phosphosites": 11, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 31, "disease_count": 24, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0PJW2;D3DXJ8;O15495;Q12806;Q13413;Q14648;Q16499", "ec_number_list": [], "go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0002020 protease binding;GO:0005178 integrin binding;GO:0015026 coreceptor activity;GO:0019899 enzyme binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0035867 alphav-beta3 integrin-IGF-1-IGF1R complex;GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0072126 positive regulation of glomerular mesangial cell proliferation;GO:0045124 regulation of bone resorption;GO:0035295 tube development;GO:0010888 negative regulation of lipid storage;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 58.2, "record_id": "P05106-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16527-1", "uniprot_id": [ { "id": "CSRP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16527", "type": "external" } ], "mass": 20954.0, "length": 193, "protein_name": "Cysteine and glycine-rich protein 2", "gene_name": "CSRP2", "organism": "Human", "refseq_name": "cysteine and glycine-rich protein 2 isoform b", "refseq_ac": [ { "id": "NP_001287894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287894", "type": "external" } ], "gene_names_uniprotkb": "CSRP2; LMO5; SMLIM", "gene_names_refseq": "CRP2; CSRP2; LMO5; SmLIM", "protein_names_uniprotkb": "Cysteine and glycine-rich protein 2; CRP2; Cysteine-rich protein 2; LIM domain only protein 5; LMO-5; SmLIM; Smooth muscle cell LIM protein", "protein_names_refseq": "LIM domain only 5, smooth muscle; LIM domain only protein 5; LMO-5; cysteine and glycine-rich protein 2 isoform b; cysteine-rich protein 2; epididymis secretory sperm binding protein; smooth muscle cell LIM protein", "tax_id": 9606, "disease": "renal hypertension (Disease Ontology:DOID:1073); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:1466)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10924333;11237011;25576301;25645385;25892735;26992070;28832583;28834231;29393594;29557506;29976963;30568303;31154438;31848261;32157095;32502341;32938616;33042270;34019948;34171305;34229054;35051231;36010968;37164693;37217939;37899269;37938771;38665916;8626582;9286703", "class_list": "", "function": "CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; CSRP2 suppresses colorectal cancer progression via p130Cas/Rac1 axis-meditated ERK, PAK, and HIPPO signaling pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Could play a role in neuronal development., [UniProtKB, UniProtKB]; Drastically down-regulated in response to PDGF-BB or cell injury, that promote smooth muscle cell proliferation and dedifferentiation. Seems to play a role in the development of the embryonic vascular system., [UniProtKB]; Role of CRP2-MRTF interaction in functions of myofibroblasts., [RefSeq, PubMed]; Significance of the p38MAPK-CRP2 axis in myofibroblastic phenotypic transition., [RefSeq, PubMed]; Study showed that CSRP2, an invadopodial actin bundling protein, is upregulated by hypoxia in various breast cancer cell lines, as well as in pre-clinical and clinical breast tumor specimens and functionally characterized two hypoxia responsive elements within the proximal promoter of CSRP2 gene which are targeted by hypoxia-inducible factor-1 (HIF-1) and required for promoter transactivation in response to hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q93030", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008307 structural constituent of muscle;GO:0042805 actinin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005925 focal adhesion;GO:0030018 Z disc", "go_biological_process": "GO:0030154 cell differentiation;GO:0045214 sarcomere organization;GO:0060537 muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q16527-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WY41-1", "uniprot_id": [ { "id": "NANO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WY41", "type": "external" } ], "mass": 30230.0, "length": 292, "protein_name": "Nanos homolog 1", "gene_name": "NANOS1", "organism": "Human", "refseq_name": "nanos homolog 1", "refseq_ac": [ { "id": "NP_955631", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_955631", "type": "external" } ], "gene_names_uniprotkb": "NANOS1; NOS1", "gene_names_refseq": "EC_Rep1a; NANOS1; NOS-1; NOS1; SPGF12; ZC2HC12A", "protein_names_uniprotkb": "Nanos homolog 1; EC_Rep1a; NOS-1", "protein_names_refseq": "nanos homolog 1", "tax_id": 9606, "disease": "spermatogenic failure 12 (Disease Ontology:DOID:0070171)", "pathway": " (hsa:340719)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12690449;17047063;18223680;19168546;21421998;21800163;23315541;23320086;25100735;32161166;33298915", "class_list": "", "function": "A group of 195 patients manifesting non-obstructive azoospermia or oligozoospermia were tested for mutations of the NANOS1 gene., [RefSeq, PubMed]; Findings describe a new function for hNanos1 as a downstream effector of E-cadherin loss contributing to tumor progression., [RefSeq, PubMed]; High NANOS expression is associated with retinoblastoma., [RefSeq, PubMed]; May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3'-UTR of mRNA targets. Capable of interfering with the proadhesive and anti-invasive functions of E-cadherin. Up-regulates the production of MMP14 to promote tumor cell invasion., [UniProtKB, PubMed, PubMed]; NANOS1-PUMILIO2 complex, together with GEMIN3 and small noncoding RNAs, possibly regulate mRNA translation within the chromatoid body of the human germ cells., [RefSeq, PubMed]; Single nucleotide polymorphisms in CYP26B1, NANOS1 and STRA8 genes support involvement of meiotic program initiation in modifying azoospermia and oligozoospermia risk in a Han-Chinese population, [RefSeq, PubMed]; The E-cadherin-repressed hNanos1 gene induces tumor cell invasion by upregulating MT1-MMP expression., [RefSeq, PubMed]; This gene encodes a CCHC-type zinc finger protein that is a member of the nanos family. This protein co-localizes with the RNA-binding protein pumilio RNA-binding family member 2 and may be involved in regulating translation as a post-transcriptional repressor. Mutations in this gene are associated with spermatogenic impairment. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding;GO:0030371 translation repressor activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0010631 epithelial cell migration;GO:0016477 cell migration;GO:0010608 post-transcriptional regulation of gene expression;GO:0017148 negative regulation of translation;GO:0048477 oogenesis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8WY41-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q30KQ1-1", "uniprot_id": [ { "id": "DB133_HUMAN", "url": "https://www.uniprot.org/uniprot/Q30KQ1", "type": "external" } ], "mass": 7213.0, "length": 61, "protein_name": "Beta-defensin 133", "gene_name": "DEFB133", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "DEFB133", "gene_names_refseq": "", "protein_names_uniprotkb": "Beta-defensin 133; Defensin, beta 133", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "10521347;10914484;11085990;11702237;11934878;12949495;16033865;18006661;20214904;20385753;20483750;21122132;9541493", "class_list": "", "function": "Has antibacterial activity., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4QY39", "ec_number_list": [], "go_molecular_function": "GO:0042056 chemoattractant activity;GO:0031731 CCR6 chemokine receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0045087 innate immune response;GO:0060326 cell chemotaxis;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q30KQ1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15457-1", "uniprot_id": [ { "id": "MSH4_HUMAN", "url": "https://www.uniprot.org/uniprot/O15457", "type": "external" } ], "mass": 104756.0, "length": 936, "protein_name": "MutS protein homolog 4", "gene_name": "MSH4", "organism": "Human", "refseq_name": "mutS protein homolog 4", "refseq_ac": [ { "id": "NP_002431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002431", "type": "external" } ], "gene_names_uniprotkb": "MSH4", "gene_names_refseq": "ASG; MSH4; POF20; SPGF2", "protein_names_uniprotkb": "MutS protein homolog 4; hMSH4", "protein_names_refseq": "hMSH4; mutS protein homolog 4", "tax_id": 9606, "disease": "spermatogenic failure 2 (Disease Ontology:DOID:0070164); primary ovarian insufficiency (Disease Ontology:DOID:5426); premature ovarian failure 20 (MONDO:MONDO:0030975)", "pathway": " (hsa:4438); (R-HSA-912446)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;10029069;10438626;10562567;10728666;10734115;10928988;11292842;15164066;15304223;16123081;16292313;16322221;17541404;17965729;17977839;17981954;18256600;18535008;18669648;20044539;20044541;20062530;20818382;28541421;29608566;30379171;32741963;33437391;33448284;34755185;35051231;35090489;37620942;38175272;8929543;9008167;9299235;9311981;9450758;9781043;9826763", "class_list": "", "function": "A novel homozygote nonsense variant of MSH4 leads to primary ovarian insufficiency and non-obstructive azoospermia. Publication Status: Online-Only, [RefSeq, PubMed]; Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes., [RefSeq, PubMed]; Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis., [UniProtKB]; Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5T4U6;Q8NEB3;Q9UNP8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0003690 double-stranded DNA binding;GO:0030983 mismatched DNA binding;GO:0140664 ATP-dependent DNA damage sensor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome;GO:0005713 recombination nodule;GO:0000795 synaptonemal complex", "go_biological_process": "GO:0006298 mismatch repair;GO:0007131 reciprocal meiotic recombination", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "O15457-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6VVB1-1", "uniprot_id": [ { "id": "NHLC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6VVB1", "type": "external" } ], "mass": 42293.0, "length": 395, "protein_name": "E3 ubiquitin-protein ligase NHLRC1", "gene_name": "NHLRC1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase NHLRC1", "refseq_ac": [ { "id": "NP_940988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940988", "type": "external" } ], "gene_names_uniprotkb": "NHLRC1; EPM2B", "gene_names_refseq": "EPM2B; MALIN; MELF2; NHLRC1; bA204B7.2", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase NHLRC1; 2.3.2.27; Malin; NHL repeat-containing protein 1; RING-type E3 ubiquitin transferase NHLRC1", "protein_names_refseq": "E3 ubiquitin-protein ligase NHLRC1; NHL repeat containing 1; NHL repeat-containing protein 1; RING-type E3 ubiquitin transferase NHLRC1", "tax_id": 9606, "disease": "Lafora disease 2 (Disease Ontology:DOID:0061211); Lafora disease (Disease Ontology:DOID:3534)", "pathway": " (hsa:378884); (R-HSA-3322077); (R-HSA-3785653)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "12958597;14532330;15781812;15930137;16021330;17908927;18040046;18070875;18311786;19036738;19699667;20357282;20538597;21356517;21505799;22248338;22815132;22961547;23624058;23663739;25416783;25538239;25544560;26216881;31758957;34117373;35569391;36142605;38253038;4829444;5348606;5427280;7902568;8613547;8631325;9346895;9691087;9771710;9931343", "class_list": "", "function": "Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease., [RefSeq, PubMed]; E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic allelic heterogeneity is present in Lafora disease associated with mutations in EPM2B. Patients with mutations in EPM2A and EPM2B express similar clinical manifestation., [RefSeq, PubMed]; Identification of NHLRC1 as a Novel AKT Activator from a Lung Cancer Epigenome-Wide Association Study (EWAS). Publication Status: Online-Only, [RefSeq, PubMed]; Laforin and malin colocalize to the ER, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy, [RefSeq, PubMed]; Laforin/malin complex interacts physically and co-localizes intracellularly with core components of the PI3KC3 complex (Beclin1, Vps34 and Vps15), and that this interaction is specific and results in the polyubiquitination of these proteins., [RefSeq, PubMed]; Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin., [RefSeq, PubMed]; The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]., [RefSeq]; The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3SYB1;Q5VUK7;Q6IMH1", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "2.4.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.11", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0006914 autophagy;GO:0005978 glycogen biosynthetic process;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q6VVB1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86W67-1", "uniprot_id": [ { "id": "F228A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86W67", "type": "external" } ], "mass": 23752.0, "length": 206, "protein_name": "Protein FAM228A", "gene_name": "FAM228A", "organism": "Human", "refseq_name": "protein FAM228A", "refseq_ac": [ { "id": "NP_001035800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035800", "type": "external" } ], "gene_names_uniprotkb": "FAM228A; C2orf84", "gene_names_refseq": "C2orf84; FAM228A", "protein_names_uniprotkb": "Protein FAM228A", "protein_names_refseq": "UPF0638 protein C2orf84; protein FAM228A", "tax_id": 9606, "disease": "", "pathway": " (hsa:653140)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;33981976", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q86W67-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCG8-1", "uniprot_id": [ { "id": "CWC22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCG8", "type": "external" } ], "mass": 105466.0, "length": 908, "protein_name": "Pre-mRNA-splicing factor CWC22 homolog", "gene_name": "CWC22", "organism": "Human", "refseq_name": "pre-mRNA-splicing factor CWC22 homolog isoform a", "refseq_ac": [ { "id": "NP_065994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065994", "type": "external" } ], "gene_names_uniprotkb": "CWC22; KIAA1604; NCM", "gene_names_refseq": "CWC22; EIF4GL; NCM; fSAPb", "protein_names_uniprotkb": "Pre-mRNA-splicing factor CWC22 homolog; Nucampholin homolog; fSAPb", "protein_names_refseq": "CWC22 homolog, spliceosome-associated protein; CWC22 spliceosome associated protein homolog; functional spliceosome-associated protein b; nucampholin homolog; pre-mRNA-splicing factor CWC22 homolog isoform a; pre-mRNA-splicing factor CWC22 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:57703); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 177, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11747608;11991638;12176931;12226669;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;16314458;16809785;17081983;17095540;17332742;17606899;18322460;18452278;18593880;19103666;19165350;19413330;19536130;19651622;20068231;20423332;20980672;21406692;21536652;2176635;21911577;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24218557;24304693;24448447;24714562;24715725;24737827;24914973;25418920;25505266;25555158;25576301;2558966;25645385;25880248;25892735;26092250;26154972;26375851;26385511;26420826;26728094;26929215;26969736;26992070;27108190;27377154;27459055;27600516;27683217;27846572;27862975;27920218;28062851;28076346;28218747;28228285;28502770;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29902443;30315122;30315277;30429286;30484775;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31092671;31154438;31217245;31222486;31373491;31409651;31844290;31848261;31998317;32157095;32161166;32179686;32265295;32329775;32345988;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33123756;33141586;33177556;33243851;33392160;33446560;33509932;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34229054;34301950;34561969;34822310;34932366;35051231;35215846;35318648;35385551;35580925;36010968;36241641;36284347;3757028;37938771;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Gene expression network analysis of lymph node involvement in colon cancer identifies AHSA2, CDK10, and CWC22 as possible prognostic markers. Publication Status: Online-Only, [RefSeq, PubMed]; Required for pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:12226669, PubMed:22961380, PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Promotes exon-junction complex (EJC) assembly (PubMed:22959432, PubMed:22961380). Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Required for pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs. Promotes exon-junction complex (EJC) assembly. Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q05DC2;Q4G135;Q52LF0;Q6PEX2;Q7Z6I0;Q9H5L3;Q9H6Q6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0048024 regulation of mRNA splicing, via spliceosome;GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "Q9HCG8-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98073-1", "uniprot_id": [ { "id": "ENTK_HUMAN", "url": "https://www.uniprot.org/uniprot/P98073", "type": "external" } ], "mass": 112935.0, "length": 1019, "protein_name": "Enteropeptidase", "gene_name": "TMPRSS15", "organism": "Human", "refseq_name": "enteropeptidase isoform 2", "refseq_ac": [ { "id": "NP_001414986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001414986", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS15; ENTK; PRSS7", "gene_names_refseq": "ENTK; PRSS7; TMPRSS15", "protein_names_uniprotkb": "Enteropeptidase; 3.4.21.9; Enterokinase; Serine protease 7; Transmembrane protease serine 15", "protein_names_refseq": "enterokinase catalytic subunit; enteropeptidase isoform 2; enteropeptidase; protease, serine, 7 (enterokinase); serine protease 7; transmembrane protease, serine 15", "tax_id": 9606, "disease": "enterokinase deficiency (Disease Ontology:DOID:0111667)", "pathway": " (hsa:5651)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11719902;22488687;23185382;23436726;24190977;24715725;29629340;35051231;35580925;36284347;7718557;8052624", "class_list": "", "function": "Enterokinases was able to enhance the proliferation of H1N1 virus in 293T human kidney cells, but the proliferation was reduced by knocking down the endogenous enterokinase in A549 cells. Publication Status: Online-Only, [RefSeq, PubMed]; Enteropeptidase is a gene associated with a starvation human phenotype and a novel target for obesity treatment, [RefSeq, PubMed]; Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases., [UniProtKB]; The Y174R variant showed improved specificities for substrates containing the sequences DDDDK (kcat/KM = 6.83 x 106 M-1 sec-1) and DDDDR (kcat/KM = 1.89 x 107 M-1 sec-1) relative to all other enteropeptidase variants reported to date., [RefSeq, PubMed]; This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 3, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 15, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 15, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 15, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 112, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "Q2NKL7", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005903 brush border;GO:0016020 membrane", "go_biological_process": "GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P98073-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20338-1", "uniprot_id": [ { "id": "RAB4A_HUMAN", "url": "https://www.uniprot.org/uniprot/P20338", "type": "external" } ], "mass": 24390.0, "length": 218, "protein_name": "Ras-related protein Rab-4A", "gene_name": "RAB4A", "organism": "Human", "refseq_name": "ras-related protein Rab-4A isoform 1", "refseq_ac": [ { "id": "NP_004569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004569", "type": "external" } ], "gene_names_uniprotkb": "RAB4A; RAB4", "gene_names_refseq": "HRES-1/RAB4; HRES-1; HRES1; RAB4A; RAB4", "protein_names_uniprotkb": "Ras-related protein Rab-4A; 3.6.5.2", "protein_names_refseq": "HTLV-1 related endogenous sequence; ras-related protein Rab-4A isoform 1; ras-related protein Rab-4A", "tax_id": 9606, "disease": "", "pathway": " (hsa:5867); (R-HSA-1445148); (R-HSA-1660499); (R-HSA-8854214); (R-HSA-8873719); (R-HSA-8875656)", "pathway_count": 6, "publication_count": 180, "publication_id_list": "10.1101/2023.09.13.557529;10194451;10202141;10224048;10555148;10559940;10593988;10698684;10753883;10805725;10822173;11001876;11084340;11141079;11237011;11279162;11302699;11349134;11389151;11447212;11604140;11675392;11676921;11733541;11786538;11788822;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;1425574;14516276;14617813;14660569;15080793;15107860;15135396;15280022;15464023;15716355;15797027;15840652;15907487;15919790;15971998;16034420;16055087;16154996;16395330;16399794;16401880;16476736;1648736;16522682;16880201;16914545;16935861;16979564;17008356;17114793;17245604;17369524;17411337;17651088;17658474;17786215;17901050;17995453;18093523;18199687;18319245;18466115;18532927;18753295;19013499;1902553;19038970;19252894;19603039;19896968;20068231;20095038;20098723;20116244;20363736;20404108;20534812;20631154;20701589;20837646;20937701;21204784;21383079;21454505;21454690;21458671;21664574;21907143;22037487;22219378;22613832;22647598;22694141;22762500;22795129;22854040;23019362;23186163;23519112;23562278;23758345;24023390;2501306;25341920;25495341;25502872;2550440;26154972;26811146;26969162;28467828;29242379;29425100;30626607;31844290;32157095;32350084;32357974;32488085;32983136;33592498;33912179;33968037;34171305;34185709;34357683;35154160;35251023;36215666;36307864;37423034;38523522;39325073;7608176;7624799;7957092;7991565;8094051;8164745;8349690;8375503;8513495;8631982;8662963;8664345;8681945;8723348;8769125;8836150;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Arf1-dependent LRBA recruitment to Rab4 endosomes is required for endolysosome homeostasis., [RefSeq, PubMed]; RAB4A GTPase regulates epithelial-to-mesenchymal transition by modulating RAC1 activation. Publication Status: Online-Only, [RefSeq, PubMed]; Ras-related Protein in Brain 4A (Rab4A) is Downregulated by miR-496 to inhibit the Progression of Gastric Cancer., [RefSeq, PubMed]; Receptor-mediated internalization promotes increased endosome size and number in a RAB4- and RAB5-dependent manner., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:15907487, PubMed:16034420). RAB4A is involved in protein transport (PubMed:29425100). Also plays a role in vesicular traffic. Mediates VEGFR2 endosomal trafficking to enhance VEGFR2 signaling (PubMed:29425100). Acts as a regulator of platelet alpha-granule release during activation and aggregation of platelets (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T7P7;Q9BQ44", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048471 perinuclear region of cytoplasm;GO:0055037 recycling endosome;GO:0070062 extracellular exosome;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0015031 protein transport;GO:0030100 regulation of endocytosis;GO:0016192 vesicle-mediated transport;GO:0032482 Rab protein signal transduction;GO:0098968 neurotransmitter receptor transport postsynaptic membrane to endosome", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "P20338-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15628-1", "uniprot_id": [ { "id": "TRADD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15628", "type": "external" } ], "mass": 34247.0, "length": 312, "protein_name": "Tumor necrosis factor receptor type 1-associated DEATH domain protein", "gene_name": "TRADD", "organism": "Human", "refseq_name": "tumor necrosis factor receptor type 1-associated DEATH domain protein", "refseq_ac": [ { "id": "NP_001310481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310481", "type": "external" } ], "gene_names_uniprotkb": "TRADD", "gene_names_refseq": "Hs.89862; TRADD", "protein_names_uniprotkb": "Tumor necrosis factor receptor type 1-associated DEATH domain protein; TNFR1-associated DEATH domain protein; TNFRSF1A-associated via death domain", "protein_names_refseq": "TNFR1-associated death domain protein; tumor necrosis factor receptor type 1 associated death domain protein; tumor necrosis factor receptor type 1-associated DEATH domain protein; tumor necrosis factor receptor-1-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8717); (R-HSA-140534); (R-HSA-3371378); (R-HSA-5213460); (R-HSA-5218900); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5675482); (R-HSA-69416); (R-HSA-75893); (R-HSA-9693928)", "pathway_count": 12, "publication_count": 196, "publication_id_list": "10356400;10521396;10837247;10892748;10894160;10911999;11032752;11098060;11181075;11384965;11427719;11463813;11577081;11684708;12167698;12181749;12215447;12620239;12620240;12709429;12721308;12887920;12912912;14585990;14716293;15024054;15258597;15289496;15310755;15556967;15760909;15814722;15870263;16260783;16282325;16603398;16682944;16829951;16829952;16953224;17314102;17636564;17644308;17702576;18178551;18190721;18256533;18485876;18570872;18838202;19278658;19289468;19416807;19524512;19524513;19683492;19910467;20005846;20185725;20218968;20219915;20304918;20308068;20385093;20628368;20696707;20951169;21091114;21235526;21307340;21408173;21737330;22179575;22265413;22297296;22421439;22435550;22479555;22817896;22848449;23313255;23429285;23481700;23746843;23955153;24059293;24098568;24130170;24246475;24316671;24323043;24703947;24726323;24726327;24813885;25565632;25576301;25852146;25996294;26154972;26344099;26775703;26866270;26900751;26933192;26997266;27307491;27458237;27545878;27552911;27591049;27920218;28069818;28228285;2848815;28506461;28661484;28832583;28834231;28855257;28920952;28920954;29242379;29393594;29449376;29493099;29557506;29632711;29642005;29681455;29786170;29883609;29883610;29930286;30146158;30315122;30361438;30420664;30429286;30770249;30902834;30979585;30988283;31031142;31138766;31358971;31366726;31511692;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32269263;32320653;32350084;32387766;32411667;32488085;32561730;32766249;32938616;32983136;33123756;33141586;33298915;33392160;33469115;33592498;33912179;33968037;34162724;34175311;34185709;34363755;34509645;34830347;34876703;34999730;35051231;35580925;35941131;36010968;36076575;36284347;7531702;7667287;7758105;8612133;8679576;9049422;9065443;9721089;9880531", "class_list": "", "function": "Adapter molecule for TNFRSF1A/TNFR1 that specifically associates with the cytoplasmic domain of activated TNFRSF1A/TNFR1 mediating its interaction with FADD (PubMed:23955153, PubMed:7758105, PubMed:8612133). Overexpression of TRADD leads to two major TNF-induced responses, apoptosis and activation of NF-kappa-B (PubMed:7758105, PubMed:8612133). The nuclear form acts as a tumor suppressor by preventing ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A by TRIP12: acts by interacting with TRIP12, leading to disrupt interaction between TRIP12 and isoform p19ARF/ARF of CDKN2A (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; RIPK1 and TRADD Regulate TNF-Induced Signaling and Ripoptosome Formation. Publication Status: Online-Only, [RefSeq, PubMed]; Roles of the adaptor protein tumor necrosis factor receptor type 1-associated death domain protein (TRADD) in human diseases. Review article, [RefSeq, PubMed]; Structural basis of NF-kappaB signaling by the p75 neurotrophin receptor interaction with adaptor protein TRADD through their respective death domains. Erratum:[J Biol Chem. 2022 Nov;298(11):102583. doi: 10.1016/j.jbc.2022.102583. PMID: 36257251], [RefSeq, PubMed]; The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RDS3;B3KQZ9;Q52NZ1", "ec_number_list": [], "go_molecular_function": "GO:0070513 death domain binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0019900 kinase binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0030335 positive regulation of cell migration;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 20.0, "record_id": "Q15628-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3I1-1", "uniprot_id": [ { "id": "FBX7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3I1", "type": "external" } ], "mass": 58503.0, "length": 522, "protein_name": "F-box only protein 7", "gene_name": "FBXO7", "organism": "Human", "refseq_name": "F-box only protein 7 isoform 2", "refseq_ac": [ { "id": "NP_001028196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028196", "type": "external" } ], "gene_names_uniprotkb": "FBXO7; FBX7", "gene_names_refseq": "FBX07; FBX7; FBXO7; FBX; PARK15; PKPS", "protein_names_uniprotkb": "F-box only protein 7", "protein_names_refseq": "F-box only protein 7 isoform 2; F-box only protein 7", "tax_id": 9606, "disease": "Parkinson's disease 15 (Disease Ontology:DOID:0060372); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:25793); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 222, "publication_id_list": "10531035;10535940;10597293;10811609;10878807;10945468;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12527899;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15145941;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16096642;16171779;16401342;16510124;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18477386;18495667;18513678;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20853184;21447816;21463634;21778237;21863050;21940857;22212761;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23933751;23986495;24076655;24366543;24366607;24419388;24636985;24714562;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;25645385;25892735;26154972;26344709;26460955;26632597;26768311;26811146;26906416;26929215;26992070;27030794;27222660;27565346;27600516;27846572;27862975;27920218;28115426;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29153394;29242379;29314611;29331515;29351928;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30059200;30315122;30410026;30484775;30610225;31092671;31844290;32005965;32157095;32265295;32284348;32357974;32387766;32502341;32892229;32938616;32983136;33010352;33141586;33298915;33444648;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34725712;34791250;35051231;35561310;35580925;36010968;36215666;36241641;36284347;36646384;37344480;37822160;37874827;38839752;39534244;40914422;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "FBXO7 Confers Mesenchymal Properties and Chemoresistance in Glioblastoma by Controlling Rbfox2-Mediated Alternative Splicing., [RefSeq, PubMed]; FBXO7 ubiquitinates PRMT1 to suppress serine synthesis and tumor growth in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; FBXO7, a tumor suppressor in endometrial carcinoma, suppresses INF2-associated mitochondrial division. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes such as cell cycle, cell proliferation, or maintenance of chromosome stability (PubMed:15145941, PubMed:34791250). Recognizes and ubiquitinates BIRC2 and the cell cycle regulator DLGAP5 (PubMed:15145941, PubMed:16510124, PubMed:22212761). Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination. Mediates the ubiquitination and proteasomal degradation of UXT isoform 2, thereby impairing the NF-kappa-B signaling pathway (PubMed:33010352). Inhibits NF-kappa-B pathway also by promoting the ubiquitination of TRAF2 (PubMed:22212761). Affects the assembly state and activity of the proteasome in the cells including neurons by ubiquitinating the proteasomal subunit PSMA2 via 'Lys-63'-linked polyubiquitin chains (By similarity). Promotes 'Lys-48'-linked polyubiquitination SIRT7, leading to the hydrogen peroxide-induced cell death (PubMed:36646384)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]., [RefSeq]; USP7 attenuates endoplasmic reticulum stress-induced apoptotic cell death through deubiquitination and stabilization of FBXO7. Erratum:[PLoS One. 2024 Jan 24;19(1):e0297970. doi: 10.1371/journal.pone.0297970. PMID: 38265984] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DNB3;B4DWX5;Q5TGC4;Q5TI86;Q96HM6;Q9UF21;Q9UKT2", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0046982 protein heterodimerization activity;GO:0031625 ubiquitin protein ligase binding;GO:0004842 ubiquitin-protein transferase activity;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:1901526 positive regulation of mitophagy;GO:0040012 regulation of locomotion;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0006626 protein targeting to mitochondrion;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "Q9Y3I1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99999-1", "uniprot_id": [ { "id": "G3ST1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99999", "type": "external" } ], "mass": 48764.0, "length": 423, "protein_name": "Galactosylceramide sulfotransferase", "gene_name": "GAL3ST1", "organism": "Human", "refseq_name": "galactosylceramide sulfotransferase isoform 1", "refseq_ac": [ { "id": "NP_001305032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305032", "type": "external" } ], "gene_names_uniprotkb": "GAL3ST1; CST", "gene_names_refseq": "CST; GAL3ST1", "protein_names_uniprotkb": "Galactosylceramide sulfotransferase; 2.8.2.11; 3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase; 3'-phosphoadenylylsulfate:galactosylceramide 3'-sulfotransferase; Cerebroside sulfotransferase; GalCer sulfotransferase", "protein_names_refseq": "3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase; cerebroside (3'-phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase; galactosylceramide sulfotransferase isoform 1; galactosylceramide sulfotransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:9514); (R-HSA-9840309)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10601645;10748143;10785389;10993897;11018043;11237011;11283017;11956206;12222957;12668675;12815231;12888565;1601877;16934889;18477386;19587831;20547865;2118655;22735313;23290777;23746551;23882130;24498430;29802621;30459171;31154438;31427440;32350084;34035403;34171305;34982351;35051231;35251023;35580925;37074911;7876235;7890749;8643456;8830034;8910600;8920913;9030544;9125199;9199191;9582303;9822625", "class_list": "glycogene", "function": "Catalyzes the transfer of a sulfate group to position 3 of non-reducing beta-galactosyl residues in glycerolipids and sphingolipids, therefore participates in the biosynthesis of sulfoglycolipids (PubMed:8830034, PubMed:9030544). Catalyzes the synthesis of galactosylceramide sulfate (sulfatide), a major lipid component of the myelin sheath and of monogalactosylalkylacylglycerol sulfate (seminolipid), present in spermatocytes (PubMed:8830034). Seems to prefer beta-glycosides at the non-reducing termini of sugar chains attached to a lipid moiety (PubMed:8830034). Also acts on lactosylceramide, galactosyl 1-alkyl-2-sn-glycerol and galactosyl diacylglycerol (in vitro) (PubMed:8830034)., [UniProtKB, PubMed, PubMed]; Results suggest that heterozygosity at SNP rs2267161 in the gene encoding the CST enzyme confers increased risk of type 2 diabetes; females with the CC allele showed lower insulin resistance, [RefSeq, PubMed]; Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; The prognostic value of galactosylceramide-sulfotransferase (Gal3ST1) in human renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that GAL3ST1 is a HIF-responsive gene that may contribute to clear cell renal cell carcinoma (ccRCC) development via promoting cancer cell evasion of immune surveillance. Erratum:[Mol Cancer Res. 2021 Apr;19(4):739. doi: 10.1158/1541-7786.MCR-20-0986. PMID: 33811174], [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 545, "reported_interactions": 0, "missing_score": 9577, "biomarker_type": "", "glycan_count": 17, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q96C63", "ec_number_list": [ { "id": "2.8.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.11", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0001733 galactosylceramide sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0006665 sphingolipid metabolic process;GO:0042552 myelination;GO:0006487 protein N-linked glycosylation;GO:0006682 galactosylceramide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q99999-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48380-1", "uniprot_id": [ { "id": "RFX3_HUMAN", "url": "https://www.uniprot.org/uniprot/P48380", "type": "external" } ], "mass": 83530.0, "length": 749, "protein_name": "Transcription factor RFX3", "gene_name": "RFX3", "organism": "Human", "refseq_name": "transcription factor RFX3 isoform b", "refseq_ac": [ { "id": "NP_001269045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269045", "type": "external" } ], "gene_names_uniprotkb": "RFX3", "gene_names_refseq": "RFX3", "protein_names_uniprotkb": "Transcription factor RFX3; Regulatory factor X 3", "protein_names_refseq": "DNA binding protein RFX3; regulatory factor X, 3 (influences HLA class II expression); transcription factor RFX3 isoform b; transcription factor RFX3", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545)", "pathway": " (hsa:5991)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10330134;11237011;12411430;18452278;19651622;20148032;22544926;23481700;24715725;25576301;26154972;26375851;26811146;26992070;27600516;27846572;28218747;28228285;28832583;29242379;29437277;29557506;29786170;30315122;31429579;31530632;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33968037;33981976;34211107;34405274;34509645;35051231;35416616;35580925;36010968;36241641;37938771;8289803", "class_list": "", "function": "CircRFX3 Up-regulates Its Host Gene RFX3 to Facilitate Tumorigenesis and Progression of Glioma., [RefSeq, PubMed]; Data show that two regulatory factor for X box (RFX1 and 3) binding sites in exon1 of both the mouse and human microtubule-associated protein (MAP1A) gene are important for effective transcriptional repression in non-neuronal cells., [RefSeq, PubMed]; This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]., [RefSeq]; Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (PubMed:20148032). Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells (PubMed:12411430)., [UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0H5;D3DRH8;D3DRH9;Q5JTL7;Q5JTL8;Q6NW13;Q8WTU4;Q95HL5;Q95HL6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0072560 type B pancreatic cell maturation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P48380-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95876-1", "uniprot_id": [ { "id": "FRITZ_HUMAN", "url": "https://www.uniprot.org/uniprot/O95876", "type": "external" } ], "mass": 85084.0, "length": 746, "protein_name": "WD repeat-containing and planar cell polarity effector protein fritz homolog", "gene_name": "WDPCP", "organism": "Human", "refseq_name": "WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 1", "refseq_ac": [ { "id": "NP_001036157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036157", "type": "external" } ], "gene_names_uniprotkb": "WDPCP; BBS15; C2orf86; FRITZ", "gene_names_refseq": "BBS15; C2orf86; CHDTHP; CPLANE5; FRITZ; FRTZ; WDPCP", "protein_names_uniprotkb": "WD repeat-containing and planar cell polarity effector protein fritz homolog; Bardet-Biedl syndrome 15 protein; WD repeat-containing and planar cell polarity effector protein; hFRTZ", "protein_names_refseq": "Bardet-Biedl syndrome 15 protein; WD repeat-containing and planar cell polarity effector protein fritz homolog isoform 1; WD repeat-containing and planar cell polarity effector protein fritz homolog; WD repeat-containing protein C2orf86; ciliogenesis and planar polarity effector 5; ciliogenesis and planar polarity effector complex subunit 5", "tax_id": 9606, "disease": "Bardet-Biedl syndrome 15 (Disease Ontology:DOID:0110137); congenital heart defects, hamartomas of tongue, and polysyndactyly (Disease Ontology:DOID:0111591); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:51057)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;20671153;23481700;24397554;24715725;25427950;25576301;26154972;26758079;27158779;27846572;27920218;28001338;28228285;28904123;29242379;31844290;32157095;32357974;32387766;32502341;32938616;33141586;33298915;33912179;33968037;34509645;35051231;35427153;35580925;36010968;37996473;39894887", "class_list": "", "function": "Evidence for involvement of the alcohol consumption WDPCP gene in lipid metabolism, and liver cirrhosis. Publication Status: Online-Only, [RefSeq, PubMed]; Inflammatory cytokines cause reduced WDPCP expression, which contributes to impaired ciliogenesis in human rhinosinusitis., [RefSeq, PubMed]; Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity). Binds phosphatidylinositol 3-phosphate with highest affinity, followed by phosphatidylinositol 4-phosphate and phosphatidylinositol 5-phosphate (PubMed:35427153)., [UniProtKB, UniProtKB, PubMed]; Study linked mutations in Fritz to Bardet-Biedl and Meckel-Gruber syndromes, a notable link given that other genes mutated in these syndromes also influence collective cell movement and ciliogenesis, [RefSeq, PubMed]; This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53RW4;Q7Z2Z3", "ec_number_list": [], "go_molecular_function": "GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0005930 axoneme;GO:0097541 axonemal basal plate", "go_biological_process": "GO:0007399 nervous system development;GO:0032880 regulation of protein localization;GO:0021915 neural tube development;GO:0045184 establishment of protein localization;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "O95876-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54803-1", "uniprot_id": [ { "id": "GALC_HUMAN", "url": "https://www.uniprot.org/uniprot/P54803", "type": "external" } ], "mass": 77063.0, "length": 685, "protein_name": "Galactocerebrosidase", "gene_name": "GALC", "organism": "Human", "refseq_name": "galactocerebrosidase isoform a precursor", "refseq_ac": [ { "id": "NP_000144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000144", "type": "external" } ], "gene_names_uniprotkb": "GALC", "gene_names_refseq": "GALC", "protein_names_uniprotkb": "Galactocerebrosidase; 3.2.1.46; GALCERase; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase", "protein_names_refseq": "GALCERase; galactocerebrosidase isoform a precursor; galactocerebrosidase; galactocerebroside beta-galactosidase; galactosylceramide beta-galactosidase; galactosylceraminidase; testis tissue sperm-binding protein Li 88E; testis tissue sperm-binding protein Li 89A", "tax_id": 9606, "disease": "Krabbe disease (Disease Ontology:DOID:10587); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); Mycoplasma pneumoniae pneumonia (Disease Ontology:DOID:13276); melanoma (Disease Ontology:DOID:1909)", "pathway": " (hsa:2581); (R-HSA-9840310)", "pathway_count": 2, "publication_count": 153, "publication_id_list": "10191093;10196694;10234611;10406958;10477434;10781797;10823942;10833326;10861246;10942779;10993717;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12885774;12888274;12909021;1352293;1352993;15003450;15213228;15458386;15714521;15773042;15845354;16229686;16230343;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;17579360;1840600;18524657;1889421;1907800;1915858;19405096;19836391;2001789;20728381;20886637;21070211;23462331;235289;239890;25418920;2562955;26992070;2717620;28126847;28218747;28832583;28834231;29242379;29437277;29443946;29557506;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;30379171;30418433;30429286;3048308;30573663;31154438;3136930;31495489;31530632;3158659;31844290;31848261;32157095;32350084;32488085;32938616;32983136;33298915;33392160;33537174;33717175;33936100;33968037;34021168;34087483;34185709;34449528;3456607;34932366;35251023;35580925;36010968;36113749;36284347;36370000;36920572;37074911;39940;5135907;5164093;527942;5822067;7504405;7581365;7601472;7628016;7730378;7744740;7852280;8281145;8297359;8370580;8399327;8573994;8591035;8595408;8663398;8687180;8786069;8804427;8889578;8940268;8955159;8985184;9217013;9272171;9338580;9434153;9520418;9521684", "class_list": "glycogene;glycosylhydrolase", "function": "A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family., [RefSeq, PubMed]; Beta-Galactosidase is a target enzyme for detecting peritoneal metastasis of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease., [RefSeq, PubMed]; Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease., [RefSeq, PubMed]; Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8281145, PubMed:8399327). Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon (PubMed:8281145, PubMed:8399327)., [UniProtKB, PubMed, PubMed]; This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1129, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DKE8;B4DYN1;B4DZJ8;B7Z7Z2;J3KN25;J3KPP8;Q8J030", "ec_number_list": [ { "id": "3.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.45", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.46", "type": "external" }, { "id": "3.2.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.21", "type": "external" } ], "go_molecular_function": "GO:0004336 galactosylceramidase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005764 lysosome;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0046479 glycosphingolipid catabolic process;GO:0006683 galactosylceramide catabolic process", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P54803-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15149-1", "uniprot_id": [ { "id": "PLEC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15149", "type": "external" } ], "mass": 531791.0, "length": 4684, "protein_name": "Plectin", "gene_name": "PLEC", "organism": "Human", "refseq_name": "plectin isoform 1c", "refseq_ac": [ { "id": "NP_000436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000436", "type": "external" } ], "gene_names_uniprotkb": "PLEC; PLEC1", "gene_names_refseq": "EBS1; EBS5A; EBS5B; EBS5C; EBS5D; EBSMD; EBSND; EBSOG; EBSO; EBSPA; HD1; LGMD2Q; LGMDR17; PCN; PLEC1b; PLEC1; PLEC; PLTN", "protein_names_uniprotkb": "Plectin; HD1; Hemidesmosomal protein 1; PCN; PLTN; Plectin-1", "protein_names_refseq": "hemidesmosomal protein 1; plectin 1, intermediate filament binding protein 500kDa; plectin isoform 1c", "tax_id": 9606, "disease": "epidermolysis bullosa simplex 5A Ogna type (Disease Ontology:DOID:0060736); epidermolysis bullosa simplex with muscular dystrophy (Disease Ontology:DOID:0090017); autosomal recessive limb-girdle muscular dystrophy type 2Q (Disease Ontology:DOID:0110285); epidermolysis bullosa simplex (Disease Ontology:DOID:4644); epidermolysis bullosa simplex 5C, with pyloric atresia (MONDO:MONDO:0012807); epidermolysis bullosa simplex with nail dystrophy (MONDO:MONDO:0014661)", "pathway": " (hsa:5339); (R-HSA-2022090); (R-HSA-264870); (R-HSA-446107)", "pathway_count": 4, "publication_count": 238, "publication_id_list": "10.1101/2023.09.13.557529;10469173;10564664;10596943;10637308;10811835;10823823;10891503;10899937;10966814;11159198;11237011;11423904;11441066;11689006;11851880;12482924;12791251;12802069;1400327;14602708;14672974;14675180;15265795;15302935;15810881;15837520;15951569;16083285;16565220;17081983;17322306;17397861;17525332;17924679;18083107;18212344;18220336;18452278;18491316;18578522;18669648;18691976;18707149;18767875;18802091;18827015;19007248;19242489;19367720;19369195;19413330;19415658;19562805;19608861;19651622;19664994;19664995;19690332;19691289;19693541;19709076;19932097;20058876;20068230;20068231;20112406;20166139;20665883;21109228;21223964;21263134;21406692;22121020;22424782;22869377;2307289;23186163;23301498;23481700;23719902;23843618;24029068;24129315;24275569;24366607;24397554;24714562;24715725;24940650;25418920;25502872;25505266;25556389;25576301;25576336;25645385;25712130;25810538;25880248;25892735;26154972;26375851;26477546;26728094;26768311;26811146;26853435;26929215;26992070;27234031;27397612;27452731;27543614;27600516;27726376;27846572;27862975;27869121;27893789;27920218;28063628;28218747;28228285;28411811;28446606;28649982;28657654;28832583;28834231;28855257;28904123;29093164;29242379;29331515;29351928;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29930882;30315122;30379171;30397120;30410026;30429286;30444036;30484775;30779550;30833945;31092671;31154438;31217245;31222486;31492838;31530632;31717259;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35008409;35051231;35083852;35154160;35251023;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37074911;37217939;37938771;38665916;39302247;39534244;39990658;40596516;7489707;8207089;8626512;8633055;8698233;8894687;9008168;9323209;9624143;9856810;9930654", "class_list": "", "function": "Discussion of phenotypic spectrum of plectin mutations [review] Review article, [RefSeq, PubMed]; During polarization of peripheral blood T lymphocytes, plectin redistributes to the uropod associated with vimentin and fodrin. This vimentin-plectin-fodrin complex provides a continuous linkage from the nucleus (lamin B) to the cortical cytoskeleton., [RefSeq, PubMed]; Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity., [UniProtKB, PubMed, PubMed]; Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as 'hemidesmosomal protein 1' or 'plectin 1, intermediate filament binding 500kDa'. These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 99, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 135, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 6, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q15148;Q16640;Q6S376;Q6S377;Q6S378;Q6S379;Q6S380;Q6S381;Q6S382;Q6S383", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005200 structural constituent of cytoskeleton;GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005903 brush border", "go_biological_process": "GO:0014866 skeletal myofibril assembly;GO:0002522 leukocyte migration involved in immune response;GO:0061436 establishment of skin barrier;GO:0032094 response to food;GO:0000902 cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 26.1, "record_id": "Q15149-1", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14694-1", "uniprot_id": [ { "id": "UBP10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14694", "type": "external" } ], "mass": 87134.0, "length": 798, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 10", "gene_name": "USP10", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 10 isoform 1", "refseq_ac": [ { "id": "NP_001259004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259004", "type": "external" } ], "gene_names_uniprotkb": "USP10; KIAA0190", "gene_names_refseq": "UBPO; USP10", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 10; 3.4.19.12; Deubiquitinating enzyme 10; Ubiquitin thioesterase 10; Ubiquitin-specific-processing protease 10", "protein_names_refseq": "deubiquitinating enzyme 10; ubiquitin carboxyl-terminal hydrolase 10 isoform 1; ubiquitin carboxyl-terminal hydrolase 10; ubiquitin specific protease 10; ubiquitin thioesterase 10; ubiquitin thiolesterase 10; ubiquitin-specific-processing protease 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:9100); (R-HSA-5656169); (R-HSA-5689880)", "pathway_count": 3, "publication_count": 203, "publication_id_list": "10444327;10801132;10856253;10982817;10984059;11006276;11237011;11439350;11566882;11923872;12444249;12917689;12917691;14661020;15053880;15199127;15302935;15916963;16214042;16368182;16901786;16964243;16964248;17043239;17081983;17287340;17290220;17443180;17487921;17693683;17873522;17980597;17981138;18172164;18318008;18452278;18467330;18632802;18636086;18669648;19015242;19135894;19153606;19188362;19363159;19398555;19413330;19415658;19424180;19651622;19664994;19664995;19690332;19838211;19874889;19910467;20068231;20096447;20166139;20228808;20230923;20368735;20501646;21143968;21239494;21362556;21406692;21571647;21596315;21628590;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22424782;22544926;22700975;22859295;23000965;23143872;23159851;23186163;23279204;23301498;23395819;23481700;23486064;23593430;23824326;23825189;24056413;24260525;24275569;24366607;24449906;24493797;24715725;24768535;24845384;24896179;25197364;25305019;25505266;25576301;25578727;25645385;25861989;26154972;26375851;26811146;26876938;26992070;27022092;27543614;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28860189;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30524438;31154438;31217245;31530632;31844290;31848261;31937595;31981475;31998317;32011234;32119511;32157095;32161166;32302570;32350084;32357974;32387766;32411667;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34348161;34357683;34405274;34469731;34509645;34725712;34932366;35051231;35132862;35251023;35318648;35561310;35580925;36010968;36183834;36241641;36279435;37582970;38456416;38960057;39302247;39390016;39430239;40914422;7578059;8658138;8751446", "class_list": "", "function": "Epidermal Growth Factor-Like Repeats and Discoidin I-Like Domains 3 Deficiency Attenuates Dilated Cardiomyopathy by Inhibiting Ubiquitin Specific Peptidase 10 Dependent Smad4 Deubiquitination., [RefSeq, PubMed]; FOXQ1, deubiquitinated by USP10, alleviates sepsis-induced acute kidney injury by targeting the CREB5/NF-kappaB signaling axis., [RefSeq, PubMed]; Hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, RPS2/us5, RPS3/us3, RPS10/eS10, BECN1, SNX3 and CFTR (PubMed:11439350, PubMed:18632802, PubMed:31981475). Acts as an essential regulator of p53/TP53 stability: in unstressed cells, specifically deubiquitinates p53/TP53 in the cytoplasm, leading to counteract MDM2 action and stabilize p53/TP53 (PubMed:20096447). Following DNA damage, translocates to the nucleus and deubiquitinates p53/TP53, leading to regulate the p53/TP53-dependent DNA damage response (PubMed:20096447). Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34-containing complexes (PubMed:21962518). In turn, PIK3C3/VPS34-containing complexes regulate USP10 stability, suggesting the existence of a regulatory system by which PIK3C3/VPS34-containing complexes regulate p53/TP53 protein levels via USP10 and USP13 (PubMed:21962518). Does not deubiquitinate MDM2 (PubMed:20096447). Plays a key role in 40S ribosome subunit recycling when a ribosome has stalled during translation: acts both by inhibiting formation of stress granules, which store stalled translation pre-initiation complexes, and mediating deubiquitination of 40S ribosome subunits (PubMed:27022092, PubMed:31981475, PubMed:34348161, PubMed:34469731). Acts as a negative regulator of stress granules formation by lowering G3BP1 and G3BP2 valence, thereby preventing G3BP1 and G3BP2 ability to undergo liquid-liquid phase separation (LLPS) and assembly of stress granules (PubMed:11439350, PubMed:27022092, PubMed:32302570). Promotes 40S ribosome subunit recycling following ribosome dissociation in response to ribosome stalling by mediating deubiquitination of 40S ribosomal proteins RPS2/us5, RPS3/us3 and RPS10/eS10, thereby preventing their degradation by the proteasome (PubMed:31981475, PubMed:34348161, PubMed:34469731). Part of a ribosome quality control that takes place when ribosomes have stalled during translation initiation (iRQC): USP10 acts by removing monoubiquitination of RPS2/us5 and RPS3/us3, promoting 40S ribosomal subunit recycling (PubMed:34469731). Deubiquitinates CFTR in early endosomes, enhancing its endocytic recycling (PubMed:19398555). Involved in a TANK-dependent negative feedback response to attenuate NF-kappa-B activation via deubiquitinating IKBKG or TRAF6 in response to interleukin-1-beta (IL1B) stimulation or upon DNA damage (PubMed:25861989). Deubiquitinates TBX21 leading to its stabilization (PubMed:24845384). Plays a negative role in the RLR signaling pathway upon RNA virus infection by blocking the RIGI-mediated MAVS activation. Mechanistically, removes the unanchored 'Lys-63'-linked polyubiquitin chains of MAVS to inhibit its aggregation, essential for its activation (PubMed:37582970)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Ras-GAP SH3 domain binding protein (G3BP) is a modulator of USP10. G3BP does not appear to be a substrate of USP10; it rather inhibits its ability to disassemble ubiquitin chains., [RefSeq, PubMed]; The data indicate that USP10 is a new cofactor that binds to the androgen receptor (AR) and stimulates the androgen response of target promoters. This finding underlines the role of the ubiquitin/proteasome system in modulating the AR function., [RefSeq, PubMed]; USP10 promotes cell proliferation, migration, and invasion in NSCLC through deubiquitination and stabilization of EIF4G1. Publication Status: Online-Only, [RefSeq, PubMed]; USP10 promotes pancreatic ductal adenocarcinoma progression by attenuating FOXC1 protein degradation to activate the WNT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 30, "reported_mutagensis": 79, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RDJ8;B4DS84;Q9BWG7;Q9NSL7", "ec_number_list": [ { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0044325 transmembrane transporter binding;GO:0002039 p53 binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0006281 DNA repair;GO:0006508 proteolysis;GO:0010506 regulation of autophagy;GO:0016579 protein deubiquitination", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "Q14694-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVH2-1", "uniprot_id": [ { "id": "FOXP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVH2", "type": "external" } ], "mass": 73488.0, "length": 680, "protein_name": "Forkhead box protein P4", "gene_name": "FOXP4", "organism": "Human", "refseq_name": "forkhead box protein P4 isoform 1", "refseq_ac": [ { "id": "NP_001012426", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012426", "type": "external" } ], "gene_names_uniprotkb": "FOXP4; FKHLA", "gene_names_refseq": "FOXP4; hFKHLA", "protein_names_uniprotkb": "Forkhead box protein P4; Fork head-related protein-like A", "protein_names_refseq": "fork head-related protein like A; forkhead box protein P4 isoform 1; forkhead box protein P4; winged-helix repressor FOXP4", "tax_id": 9606, "disease": "specific developmental disorder (Disease Ontology:DOID:0060038); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:116113)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;16952980;16959974;18452278;18669648;19413330;19651622;20068231;23186163;23783831;24715725;25218447;25576301;25892735;28218747;28832583;29242379;29331515;29393594;29769354;29786170;30410026;30429286;31492838;31844290;32157095;32161166;32357974;32574038;32938616;32983136;33298915;33592498;33633747;33691108;33912179;33968037;34019948;34185709;34932366;35051231;35132862;35254053;35289036;35580925;35838233;36010968;36018067;36301021;38429664;38665916;38740744;39534244", "class_list": "", "function": "FOXP4 inhibits squamous differentiation of atypical cells in cervical intraepithelial neoplasia via an ELF3-dependent pathway., [RefSeq, PubMed]; FOXP4 promotes proliferation of human spermatogonial stem cells., [RefSeq, PubMed]; FOXP4-mediated induction of PTK7 activates the Wnt/beta-catenin pathway and promotes ovarian cancer development. Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphisms of IFN signaling genes and FOXP4 influence the severity of COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia., [RefSeq, PubMed]; These data implicate specific members of the FOX family of TFs (FOXC1, C2, P1, P4, and O1A) not previously suggested in heart failure pathogenesis., [RefSeq, PubMed]; This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional repressor that represses lung-specific expression., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5W098;Q7Z7F8;Q8IW55;Q96E19", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q8IVH2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBM7-1", "uniprot_id": [ { "id": "TM254_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBM7", "type": "external" } ], "mass": 14243.0, "length": 123, "protein_name": "Transmembrane protein 254", "gene_name": "TMEM254", "organism": "Human", "refseq_name": "transmembrane protein 254 isoform 5", "refseq_ac": [ { "id": "NP_001257300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257300", "type": "external" } ], "gene_names_uniprotkb": "TMEM254; C10orf57", "gene_names_refseq": "C10orf57; TMEM254; bA369J21.6", "protein_names_uniprotkb": "Transmembrane protein 254", "protein_names_refseq": "transmembrane protein 254 isoform 5; transmembrane protein C10orf57", "tax_id": 9606, "disease": "", "pathway": " (hsa:80195)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;16385451;25892735;28218747;29242379;29437277;30315122;30429286;32157095;32357974;32488085;32938616;33141586;33298915", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DWC8;Q53HP4;Q5JTC0;Q5JTC1;Q6IA45;Q9H8S6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8TBM7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40424-1", "uniprot_id": [ { "id": "PBX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P40424", "type": "external" } ], "mass": 46626.0, "length": 430, "protein_name": "Pre-B-cell leukemia transcription factor 1", "gene_name": "PBX1", "organism": "Human", "refseq_name": "pre-B-cell leukemia transcription factor 1 isoform 3", "refseq_ac": [ { "id": "NP_001191892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191892", "type": "external" } ], "gene_names_uniprotkb": "PBX1; PRL", "gene_names_refseq": "CAKUHED; PBX1", "protein_names_uniprotkb": "Pre-B-cell leukemia transcription factor 1; Homeobox protein PBX1; Homeobox protein PRL", "protein_names_refseq": "homeobox protein PBX1; homeobox protein PRL; pre-B-cell leukemia homeobox 1; pre-B-cell leukemia transcription factor 1 isoform 3; pre-B-cell leukemia transcription factor 1", "tax_id": 9606, "disease": "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (Disease Ontology:DOID:0112359); glaucoma (Disease Ontology:DOID:1686); brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:5087); (R-HSA-452723); (R-HSA-5617472); (R-HSA-9013508)", "pathway_count": 4, "publication_count": 152, "publication_id_list": "10052460;10777502;10825160;10964718;11237011;11267683;11866432;12386158;12609849;12787505;14688391;15108323;15277698;15342930;15493035;15513931;15582778;15625129;15684392;15695770;15743839;15860457;15867264;15983365;15988017;16079151;16153702;16549775;1671560;1682799;16978057;17068183;17185360;17204602;17267691;17428788;17506876;1756725;17567999;17572666;17628018;17660710;17713478;17761849;17851529;18029452;18035408;18212089;18781158;18824471;18974129;19115252;19151334;19232136;19489980;19522013;19559479;19604364;1967983;19688839;19747919;1975088;19755485;19782034;19799567;19829295;19854132;19966271;20027182;20068231;20085832;20505756;20505821;20553494;20837710;20953172;21630377;21746878;21924763;22210884;22215994;22327294;22396495;22569366;22705304;22879880;22988117;23178592;23219899;23534758;23630040;23827706;23827708;24174538;24312487;24586203;25101834;25135475;25417103;25576301;2570724;25880248;25913784;26154972;27749937;27841855;27846572;28270404;28566479;28832583;29557506;29786170;29789417;30429286;30779550;30833945;31154438;31839203;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32938616;32983136;33592498;34171305;35051231;35580925;36284347;37938771;38240925;38341110;38536923;39189629;7488013;7501971;7791786;7831296;7906964;7908827;7910944;8327485;8674428;8759021;9000051;9191052;9218805;9272954;9482740", "class_list": "", "function": "As part of a PDX1:PBX1b:MEIS2B complex in pancreatic acinar cells, is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Lupus susceptibility gene Pbx1 controls the development, stability, and function of regulatory T cells via Rtkn2 expression., [RefSeq, PubMed]; PBX1 as a novel master regulator in cancer: Its regulation, molecular biology, and therapeutic applications. Review article, [RefSeq, PubMed]; Small nucleolar RNA Snora73 promotes psoriasis progression by sponging miR-3074-5p and regulating PBX1 expression. Erratum:[Funct Integr Genomics. 2024 Jan 30;24(1):21. doi: 10.1007/s10142-024-01306-1. PMID: 38286903] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]., [RefSeq]; Transcription factor which binds the DNA sequence 5'-TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8 (PubMed:9191052). Binds to the DNA sequence 5'-TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein (PubMed:9191052). Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 (PubMed:7791786, PubMed:8327485). Acts as a transcriptional activator of PF4 in complex with MEIS1 (PubMed:12609849). Also activates transcription of SOX3 in complex with MEIS1 by binding to the 5'-TGATTGAC-3' consensus sequence (By similarity). In natural killer cells, binds to the NFIL3 promoter and acts as a transcriptional activator of NFIL3, promoting natural killer cell development (By similarity). Plays a role in the cAMP-dependent regulation of CYP17A1 gene expression via its cAMP-regulatory sequence (CRS1) (By similarity). Probably in complex with MEIS2, involved in transcriptional regulation by KLF4 (PubMed:21746878). Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B (By similarity). Together with NKX2-5, required for spleen development through a mechanism that involves CDKN2B repression (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DSC1;F5H4U9;Q5T488", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0001779 natural killer cell differentiation;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007420 brain development;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "P40424-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TB9-1", "uniprot_id": [ { "id": "PATL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TB9", "type": "external" } ], "mass": 86850.0, "length": 770, "protein_name": "Protein PAT1 homolog 1", "gene_name": "PATL1", "organism": "Human", "refseq_name": "protein PAT1 homolog 1", "refseq_ac": [ { "id": "NP_689929", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689929", "type": "external" } ], "gene_names_uniprotkb": "PATL1; KNS-cl.5", "gene_names_refseq": "PATL1; Pat1b; hPat1b", "protein_names_uniprotkb": "Protein PAT1 homolog 1; PAT1-like protein 1; Pat1b; Protein PAT1 homolog b; hPat1b", "protein_names_refseq": "PAT1-like protein 1; protein PAT1 homolog 1; protein PAT1 homolog b; protein associated with topoisomerase II homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:219988); (R-HSA-430039)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "11283721;12218187;12417715;12486012;12515382;12923261;14749774;15085179;15231747;15302935;15475613;15711010;16051491;16141059;16246173;16299471;16964243;17081983;17245413;17936923;18039849;18669648;19061636;19239894;19279404;19413330;19628699;19651622;19664994;19664995;20058876;20068231;20166139;20543818;20584987;20826699;20852261;21406692;22090346;22544926;23186163;23481700;24129315;24715725;25576301;25645385;26027925;26375851;26992070;27600516;27846572;28228285;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29786170;30315122;30379171;30429286;30524438;30779550;30833945;31217245;31422817;31439631;31844290;32157095;32350084;32354837;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33968037;33981976;34019948;34087483;34171305;34185709;34509645;34561969;34932366;35051231;35251023;35318648;35580925;36010968;36284347;37217939;37938771;40914422", "class_list": "", "function": "(Microbial infection) In case of infection, required for translation and replication of hepatitis C virus (HCV)., [UniProtKB, PubMed]; By tethering Pat1b to a reporter mRNA, the study provides evidence that Pat1b is also functionally linked to both deadenylation and decapping., [RefSeq, PubMed]; Data show that PatL1 is essential for the interaction with mRNA decapping factors (i.e. DCP2, EDC4 and LSm1-7), whereas the P-rich region and Mid domain have distinct functions in modulating these interactions., [RefSeq, PubMed]; HPat1b localizes to P-bodies, while mPat1a-GFP is either found weakly in P-bodies or disperses P-bodies in a dominant-negative fashion., [RefSeq, PubMed]; RNA-binding protein involved in deadenylation-dependent decapping of mRNAs, leading to the degradation of mRNAs (PubMed:17936923, PubMed:20543818, PubMed:20584987, PubMed:20852261). Acts as a scaffold protein that connects deadenylation and decapping machinery (PubMed:17936923, PubMed:20543818, PubMed:20584987, PubMed:20852261). Required for cytoplasmic mRNA processing body (P-body) assembly (PubMed:17936923, PubMed:20543818, PubMed:20584987, PubMed:20852261)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The identification of two human PAT1 genes is described and one of them, PATL1, codes for an open reading frame with similar features as the yeast PAT1., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KXT9;Q2TA86;Q6P166;Q8N9M6;Q8NI63", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008266 poly(U) RNA binding;GO:0034046 poly(G) binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0000932 P-body;GO:0016605 PML body;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0033962 P-body assembly", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q86TB9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYC5-1", "uniprot_id": [ { "id": "FUT8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYC5", "type": "external" } ], "mass": 66516.0, "length": 575, "protein_name": "Alpha-(1,6)-fucosyltransferase", "gene_name": "FUT8", "organism": "Human", "refseq_name": "alpha-(1,6)-fucosyltransferase isoform b", "refseq_ac": [ { "id": "NP_004471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004471", "type": "external" } ], "gene_names_uniprotkb": "FUT8", "gene_names_refseq": "CDGF1; CDGF; FUT8", "protein_names_uniprotkb": "Alpha-(1,6)-fucosyltransferase; 2.4.1.68; Alpha1-6FucT; Fucosyltransferase 8; GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase; GDP-fucose--glycoprotein fucosyltransferase; Glycoprotein 6-alpha-L-fucosyltransferase", "protein_names_refseq": "GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase; GDP-fucose--glycoprotein fucosyltransferase; alpha-(1,6)-fucosyltransferase isoform b; alpha-(1,6)-fucosyltransferase; alpha1-6FucT; fucosyltransferase 8 (alpha (1,6) fucosyltransferase); glycoprotein 6-alpha-L-fucosyltransferase", "tax_id": 9606, "disease": "pulmonary emphysema (Disease Ontology:DOID:9675); congenital disorder of glycosylation with defective fucosylation 1 (MONDO:MONDO:0020775); congenital disorder of glycosylation with defective fucosylation (MONDO:MONDO:0060720)", "pathway": " (hsa:2530); (R-HSA-9694548); (R-HSA-975578)", "pathway_count": 3, "publication_count": 77, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10094192;10343104;10464296;10764839;10814706;10988300;11237011;11445554;12417412;14514715;16754854;17172260;17175120;17466984;18431515;22915798;23584533;25171405;25502872;25576301;25813380;26811146;28467828;28832583;28904123;29242379;29304374;29317506;29393594;30237576;30429286;30573663;31154438;31217245;31844290;32157095;32350084;32363391;32366695;32518941;32676595;32938616;33310888;33592498;33912179;33936100;33968037;34087483;34117209;34171305;34357683;34428449;34528721;34561969;34599882;34932366;34961524;35051231;35154160;35251023;35580925;36280670;36581221;37598360;38218458;38256141;38507902;7635144;7650030;7986008;8524845;8808595;9133635;9478973;9949196", "class_list": "glycogene;glycosyltransferase", "function": "A genetic variation in fucosyltransferase 8 accelerates HIV-1 disease progression indicating a role for N-glycan fucosylation., [RefSeq, PubMed]; Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans (PubMed:17172260, PubMed:29304374, PubMed:36280670, PubMed:9133635). Fucosylates the reducing GlcNAc residue in complex-type N-glycans attached on the fragment crystallizable (Fc) of IgGs. Fully converts Fc glycoforms containing one or two terminal GlcNAc moieties (G0-GlcNAc and G0) (PubMed:36280670)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Distinctive domains and activity regulation of core fucosylation enzyme FUT8. Review article Erratum:[Biochim Biophys Acta Gen Subj. 2024 Jun;1868(6):130615. doi: 10.1016/j.bbagen.2024.130615. PMID: 38614919], [RefSeq, PubMed]; Expression of FUT8 is regulated by three different promoters, starting transcription in exons A, B, or C., [RefSeq, PubMed]; High-Throughput Mass Spectrometry Analysis of N-Glycans and Protein Markers after FUT8 Knockdown in the Syngeneic SW480/SW620 Colorectal Cancer Cell Model., [RefSeq, PubMed]; The Multifaceted Role of FUT8 in Tumorigenesis: From Pathways to Potential Clinical Applications. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 594, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DFS7;G3V5N0;O00235;Q8IUA5;Q9BYC6;Q9P2U5;Q9P2U6", "ec_number_list": [ { "id": "2.4.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.155", "type": "external" }, { "id": "2.4.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.68", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "type": "external" } ], "go_molecular_function": "GO:0046921 alpha-(1->6)-fucosyltransferase activity;GO:0017124 SH3 domain binding;GO:0008424 glycoprotein 6-alpha-L-fucosyltransferase activity;GO:0016758 hexosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0019082 viral protein processing;GO:0001701 in utero embryonic development;GO:0006487 protein N-linked glycosylation;GO:0009312 oligosaccharide biosynthetic process;GO:0006491 N-glycan processing", "synthesized_glycan_count": 6717, "hit_score": 8.3, "record_id": "Q9BYC5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "E5RQL4-1", "uniprot_id": [ { "id": "FONG_HUMAN", "url": "https://www.uniprot.org/uniprot/E5RQL4", "type": "external" } ], "mass": 16268.0, "length": 147, "protein_name": "Formiminotransferase N-terminal subdomain-containing protein", "gene_name": "FTCDNL1", "organism": "Human", "refseq_name": "formiminotransferase N-terminal subdomain-containing protein isoform 1 precursor", "refseq_ac": [ { "id": "NP_001337782", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001337782", "type": "external" } ], "gene_names_uniprotkb": "FTCDNL1; FONG", "gene_names_refseq": "FONG; FTCDNL1", "protein_names_uniprotkb": "Formiminotransferase N-terminal subdomain-containing protein; Formiminotransferase-cyclodeaminase N-terminal-like protein", "protein_names_refseq": "formiminotransferase N-terminal sub-domain containing; formiminotransferase N-terminal subdomain-containing protein isoform 1 precursor; formiminotransferase N-terminal subdomain-containing protein; formiminotransferase-cyclodeaminase N-terminal-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:348751)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;21573128;23303384;26492493;30379171;35494241;39113043", "class_list": "", "function": "A single nucleotide polymorphism (SNP), rs7605378 associated with osteoporosis, was identified, in a previously unknown gene on chromosome 2q33.1, FONG. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that Japanese subjects homozygous for the risk alleles of rs7605378 in FONG and rs12673629 in THSD7A have a significantly higher risk of vertebral fracture, [RefSeq, PubMed]; Rs10203122 in FTCDNL1 is associated with a susceptibility to osteoporosis. Publication Status: Online-Only, [RefSeq, PubMed]; Two genetic variants in the HIBCH and FTCDNL1 genes are associated with susceptibility to developmental dysplasia of the hips among the Han Chinese population of Southwest China. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0016740 transferase activity;GO:0005542 folic acid binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "E5RQL4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYL4-1", "uniprot_id": [ { "id": "FKB11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYL4", "type": "external" } ], "mass": 22180.0, "length": 201, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP11", "gene_name": "FKBP11", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP11 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001137254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137254", "type": "external" } ], "gene_names_uniprotkb": "FKBP11; FKBP19; PRO535", "gene_names_refseq": "FKBP11; FKBP19", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP11; 19 kDa FK506-binding protein; 19 kDa FKBP; 5.2.1.8; FK506-binding protein 11; FKBP-11; FKBP-19; PPIase FKBP11; Rotamase", "protein_names_refseq": "19 kDa FK506-binding protein; 19 kDa FKBP; FK506 binding protein 11, 19 kDa; FK506-binding protein 11; FKBP-11; FKBP-19; PPIase FKBP11; peptidyl-prolyl cis-trans isomerase FKBP11 isoform 3 precursor; peptidyl-prolyl cis-trans isomerase FKBP11; rotamase", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:51303)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "10.1038/emboj.2013.79;11237011;12975309;22661428;23481700;23584533;23749938;24366607;25418920;25505266;25576301;25880248;25892735;26154972;26375851;26811146;26992070;27846572;27920218;28218747;28228285;28385890;28467828;28510447;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29769354;29786170;30315122;31154438;31217245;31222486;31530632;31844290;31937595;31998317;32157095;32161166;32350084;32357974;32488085;32938616;33141586;33298915;33537174;33912179;33936100;33945996;33968037;34019948;34087483;34211107;34357683;34846842;34932366;35051231;35456020;35561310;35580925;36215666;37014329;37217939;37248890", "class_list": "", "function": "FK506-Binding Protein 11 Is a Novel Plasma Cell-Specific Antibody Folding Catalyst with Increased Expression in Idiopathic Pulmonary Fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]., [RefSeq]; FKBP11 improves the malignant property of osteosarcoma cells and acts as a prognostic factor of osteosarcoma., [RefSeq, PubMed]; FKBP11 promotes cell proliferation and tumorigenesis via p53-related pathways in oral squamous cell carcinoma., [RefSeq, PubMed]; FKBP11 upregulation promotes proliferation and migration in hepatocellular carcinoma., [RefSeq, PubMed]; Observed changes in activity of six rER-resident PPIases, cyclophilin B (encoded by the PPIB gene), FKBP13 (FKBP2), FKBP19 (FKBP11), FKBP22 (FKBP14), FKBP23 (FKBP7), and FKBP65 (FKBP10), due to posttranslational modifications of proline residues in the substrate., [RefSeq, PubMed]; PPIases accelerate the folding of proteins during protein synthesis., [UniProtKB, UniProtKB, UniProtKB]; Results suggest a progressively elevated expression of FKBP11 during the development of hepatocellular carcinoma, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DWB7", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9NYL4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKC9-1", "uniprot_id": [ { "id": "FBXL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKC9", "type": "external" } ], "mass": 47062.0, "length": 423, "protein_name": "F-box/LRR-repeat protein 2", "gene_name": "FBXL2", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 2 isoform 1", "refseq_ac": [ { "id": "NP_036289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036289", "type": "external" } ], "gene_names_uniprotkb": "FBXL2; FBL2; FBL3", "gene_names_refseq": "FBL2; FBL3; FBXL2", "protein_names_uniprotkb": "F-box/LRR-repeat protein 2; F-box and leucine-rich repeat protein 2; F-box protein FBL2/FBL3", "protein_names_refseq": "F-box protein FBL2/FBL3; F-box protein containing leucine-rich repeats; F-box/LRR-repeat protein 2 isoform 1; F-box/LRR-repeat protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25827)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10.1101/2023.09.13.557529;10531035;10531037;10945468;11237011;15893726;16959974;22020328;22323446;23542741;23604317;26037928;27010866;28904123;29557506;30379171;31209342;31530632;31679690;31844290;32128853;32938616;34635651;36460773;39894887", "class_list": "", "function": "Calcium-activated substrate recognition component of the SCF (SKP1-cullin-F-box protein) E3 ubiquitin-protein ligase complex, SCF(FBXL2), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:22020328, PubMed:22323446, PubMed:31209342). Unlike many F-box proteins, FBXL2 does not seem to target phosphodegron within its substrates but rather calmodulin-binding motifs and is thereby antagonized by calmodulin (PubMed:22020328, PubMed:22323446). This is the case for the cyclins CCND2 and CCND3 which polyubiquitination and subsequent degradation are inhibited by calmodulin (PubMed:22020328, PubMed:22323446). Through CCND2 and CCND3 degradation induces cell-cycle arrest in G(0) (PubMed:22020328, PubMed:22323446). SCF(FBXL2) also mediates PIK3R2 ubiquitination and proteasomal degradation thereby regulating phosphatidylinositol 3-kinase signaling and autophagy (PubMed:23604317). PCYT1A monoubiquitination by SCF(FBXL2) and subsequent degradation regulates synthesis of phosphatidylcholine, which is utilized for formation of membranes and of pulmonary surfactant (By similarity). The SCF(FBXL2) complex acts as a regulator of inflammation by mediating ubiquitination and degradation of TRAF proteins (TRAF1, TRAF2, TRAF3, TRAF4, TRAF5 and TRAF6) (By similarity). The SCF(FBXL2) complex acts as a negative regulator of the NLRP3 inflammasome by mediating ubiquitination and degradation of NLRP3 (PubMed:26037928). The GGTase-3 complex, composed of PTAR1 and RABGGTB, geranylgeranylates and targets FBXL2 to the cellular membranes, where FBXL2 forms part of the SCF(FBXL2) complex that mediates the degradation of membrane-anchored proteins (PubMed:31209342, PubMed:32128853)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; FBXL2 counteracts Grp94 to destabilize EGFR and inhibit EGFR-driven NSCLC growth. Publication Status: Online-Only, [RefSeq, PubMed]; FBXL2 promotes E47 protein instability to inhibit breast cancer stemness and paclitaxel resistance., [RefSeq, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DQV0;E9PD06;Q6IAN3;Q9NVQ8;Q9UK27;Q9UKA5;Q9Y3Y9", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0019903 protein phosphatase binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0036211 protein modification process;GO:0006508 proteolysis;GO:0010506 regulation of autophagy;GO:0050727 regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9UKC9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKW4-1", "uniprot_id": [ { "id": "VAV3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKW4", "type": "external" } ], "mass": 97776.0, "length": 847, "protein_name": "Guanine nucleotide exchange factor VAV3", "gene_name": "VAV3", "organism": "Human", "refseq_name": "guanine nucleotide exchange factor VAV3 isoform 2", "refseq_ac": [ { "id": "NP_001073343", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073343", "type": "external" } ], "gene_names_uniprotkb": "VAV3", "gene_names_refseq": "VAV3", "protein_names_uniprotkb": "Guanine nucleotide exchange factor VAV3; VAV-3", "protein_names_refseq": "VAV-3; guanine nucleotide exchange factor VAV3 isoform 2; guanine nucleotide exchange factor VAV3; vav 3 guanine nucleotide exchange factor; vav 3 oncogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:10451); (R-HSA-114604); (R-HSA-193648); (R-HSA-2029482); (R-HSA-2424491); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-3928665); (R-HSA-416482); (R-HSA-4420097); (R-HSA-5218920); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-9664422); (R-HSA-9748787)", "pathway_count": 18, "publication_count": 624, "publication_id_list": 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"class_list": "", "function": "CARD9, VAV3, and infection risk in IgA nephropathy., [RefSeq, PubMed]; DDX5 promotes esophageal squamous cell carcinoma growth through sustaining VAV3 mRNA stability., [RefSeq, PubMed]; Exchange factor for GTP-binding proteins RhoA, RhoG and, to a lesser extent, Rac1. Binds physically to the nucleotide-free states of those GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). May be important for integrin-mediated signaling, at least in some cell types. In osteoclasts, along with SYK tyrosine kinase, required for signaling through integrin alpha-v/beta-1 (ITAGV-ITGB1), a crucial event for osteoclast proper cytoskeleton organization and function. This signaling pathway involves RAC1, but not RHO, activation. Necessary for proper wound healing. In the course of wound healing, required for the phagocytotic cup formation preceding macrophage phagocytosis of apoptotic neutrophils. Responsible for integrin beta-2 (ITGB2)-mediated macrophage adhesion and, to a lesser extent, contributes to beta-3 (ITGB3)-mediated adhesion. Does not affect integrin beta-1 (ITGB1)-mediated adhesion (By similarity)., [UniProtKB]; Rs7537605 polymorphism in VAV3 gene and rs28665122 polymorphism in SEPS gene are not associated with Hashimoto's thyroiditis in North-East Algerian population., [RefSeq, PubMed]; Serum exosome-derived miR-146a-3p promotes macrophage M2 polarization in allergic rhinitis by targeting VAV3 via PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; VAV3 in human cancers: Mechanism and clinical implication. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1AMM0;B1APV5;B4E232;B7ZLR1;E9PQ97;O60498;O95230;Q9Y5X8", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0005154 epidermal growth factor receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0001772 immunological synapse", "go_biological_process": "GO:0001525 angiogenesis;GO:0016477 cell migration;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 62.8, "record_id": "Q9UKW4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC84-1", "uniprot_id": [ { "id": "FANK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC84", "type": "external" } ], "mass": 38341.0, "length": 345, "protein_name": "Fibronectin type 3 and ankyrin repeat domains protein 1", "gene_name": "FANK1", "organism": "Human", "refseq_name": "fibronectin type 3 and ankyrin repeat domains protein 1 isoform 2", "refseq_ac": [ { "id": "NP_660278", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660278", "type": "external" } ], "gene_names_uniprotkb": "FANK1; HSD13; PRO21382", "gene_names_refseq": "FANK1; HSD13", "protein_names_uniprotkb": "Fibronectin type 3 and ankyrin repeat domains protein 1", "protein_names_refseq": "fibronectin type 3 and ankyrin repeat domains 1; fibronectin type 3 and ankyrin repeat domains protein 1 isoform 2; fibronectin type 3 and ankyrin repeat domains protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:92565)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12975309;17604233;18682798;19240061;20978819;25515583;27060496;30379171;32392195;33784512;35051231;39894887", "class_list": "", "function": "FANK1 may have a role in regulating gene expression in the transition from the meiotic phase to the haploid phase during spermatogenesis, [RefSeq, PubMed]; Found that Jab1 (Jun activation domain-binding protein 1), a co-activator of AP-1, specifically interacted with Fank1, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; RYBP activates FANK1-mediated activator protein 1 (AP-1) signaling pathway which contributes to tumor cell apoptosis., [RefSeq, PubMed]; The TNfnIII 1-5 repeats play an important role in PCO pathology. Publication Status: Online-Only, [RefSeq, PubMed]; Through the activation of JUN and AP-1-mediated transcription, may regulate apoptosis., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1- and phosphorylation-dependent manner., [RefSeq, PubMed]; [Contact Sites of rDNA Clusters with FANK1 Gene Correspond to Repressed Chromatin]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXY9;Q6X7T6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005929 cilium", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8TC84-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4VC44-1", "uniprot_id": [ { "id": "FWCH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4VC44", "type": "external" } ], "mass": 80108.0, "length": 716, "protein_name": "FLYWCH-type zinc finger-containing protein 1", "gene_name": "FLYWCH1", "organism": "Human", "refseq_name": "FLYWCH-type zinc finger-containing protein 1 isoform c", "refseq_ac": [ { "id": "NP_001294997", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294997", "type": "external" } ], "gene_names_uniprotkb": "FLYWCH1; KIAA1552", "gene_names_refseq": "FLYWCH1", "protein_names_uniprotkb": "FLYWCH-type zinc finger-containing protein 1", "protein_names_refseq": "FLYWCH-type zinc finger-containing protein 1 isoform c; FLYWCH-type zinc finger-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84256)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "11230166;11237011;15094203;18669648;19691289;20068231;23186163;23481700;23783831;24715725;25218447;25418920;25576301;25578447;25892735;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28649982;28904123;29393594;29493099;29508533;29557506;29632046;29762926;29769354;29786170;29789417;30097457;30315122;30410026;31167387;31217245;31844290;32157095;32161166;32357974;32387766;32502341;32938616;33141586;33298915;33924684;33936100;33968037;34087483;34211107;34408139;35051231;35318648;35580925;36010968;36215666", "class_list": "", "function": "EQTLs acting across multiple tissues are significant carriers of inherited risk for CAD. FLYWCH1, PSORSIC3, and G3BP1 are novel master regulatory genes in CAD that may be suitable targets., [RefSeq, PubMed]; FLYWCH1 variant of uncertain significance in candidate gene was identified in Familial Mitral Valve Prolapse., [RefSeq, PubMed]; FLYWCH1, a Multi-Functional Zinc Finger Protein Contributes to the DNA Repair Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Identifies the human FLYWCH1 protein (AB046772/KIAA1552) as containing five FLYWCH domain copies., [RefSeq, PubMed]; Study uncovers a new molecular mechanism by which FLYWCH1 with a possible tumor suppressive role represses beta-catenin-induced ZEB1 and increases cadherin-mediated cell attachment preventing colorectal cancer metastasis., [RefSeq, PubMed]; Transcription cofactor (PubMed:30097457). Negatively regulates transcription activation by catenin beta-1 CTNNB1, perhaps acting by competing with TCF4 for CTNNB1 binding (PubMed:30097457). May play a role in DNA-damage response signaling (PubMed:33924684). Binds specifically to DNA sequences at peri-centromeric chromatin loci., [UniProtKB, PubMed, PubMed, PubMed]; Transcription cofactor. Negatively regulates transcription activation by catenin beta-1 CTNNB1, perhaps acting by competing with TCF4 for CTNNB1 binding. May play a role in DNA-damage response signaling. Binds specifically to DNA sequences at peri-centromeric chromatin loci., [UniProtKB, UniProtKB, UniProtKB]; We identify for the first time FLYWCH1 as a potential negative regulator of the downstream targets of the Wnt/beta-catenin pathway in AML cells. Hence, FLYWCH1 might be an intrinsic inhibitory factor of the oncogenic nuclear beta-catenin in AML cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DUA1;Q6ZSQ1;Q8WV62;Q9BQG6;Q9BUS5;Q9HCM0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0001223 transcription coactivator binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0005667 transcription regulator complex;GO:0005721 pericentric heterochromatin;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q4VC44-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55075-1", "uniprot_id": [ { "id": "FGF8_HUMAN", "url": "https://www.uniprot.org/uniprot/P55075", "type": "external" } ], "mass": 26525.0, "length": 233, "protein_name": "Fibroblast growth factor 8", "gene_name": "FGF8", "organism": "Human", "refseq_name": "fibroblast growth factor 8 isoform B precursor", "refseq_ac": [ { "id": "NP_006110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006110", "type": "external" } ], "gene_names_uniprotkb": "FGF8; AIGF", "gene_names_refseq": "AIGF; FGF-8; FGF8; HBGF-8; HH6; KAL6", "protein_names_uniprotkb": "Fibroblast growth factor 8; AIGF; Androgen-induced growth factor; FGF-8; HBGF-8; Heparin-binding growth factor 8", "protein_names_refseq": "androgen-induced growth factor; fibroblast growth factor 8 (androgen-induced); fibroblast growth factor 8 isoform B precursor; heparin-binding growth factor 8", "tax_id": 9606, "disease": "Gitelman syndrome (Disease Ontology:DOID:0050450); hypogonadotropic hypogonadism 6 with or without anosmia (Disease Ontology:DOID:0090086); essential hypertension (Disease Ontology:DOID:10825); hypospadias (Disease Ontology:DOID:10892); prostatic hypertrophy (Disease Ontology:DOID:11132); DiGeorge syndrome (Disease Ontology:DOID:11198); breast cancer (Disease Ontology:DOID:1612); epilepsy (Disease Ontology:DOID:1826); endodermal sinus tumor (Disease Ontology:DOID:1911); embryonal carcinoma (Disease Ontology:DOID:3308); choriocarcinoma (Disease Ontology:DOID:3594); tetralogy of Fallot (Disease Ontology:DOID:6419); prostate carcinoma in situ (Disease Ontology:DOID:8634); Hypoplastic femurs and pelvis (MIM:MIM:619545)", "pathway": " (hsa:2253); (R-HSA-9832991)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "11237011;11341643;16384934;16597617;18596921;20074535;20094046;20463092;21045958;21576111;23643382;34433009;37118562;37762545;39894887;7737407;8661131;8663044;8700553;8891346", "class_list": "glycogene", "function": "NMR resonance assignment of a fibroblast growth factor 8 splicing isoform b., [RefSeq, PubMed]; Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]; Unveiling the Significance of FGF8 Overexpression in Orchestrating the Progression of Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 291, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1A514;Q14915;Q15766", "ec_number_list": [], "go_molecular_function": "GO:0005105 type 1 fibroblast growth factor receptor binding;GO:0042056 chemoattractant activity;GO:0008083 growth factor activity;GO:0005111 type 2 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0043410 positive regulation of MAPK cascade;GO:0045597 positive regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P55075-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01215-1", "uniprot_id": [ { "id": "GLHA_HUMAN", "url": "https://www.uniprot.org/uniprot/P01215", "type": "external" } ], "mass": 13075.0, "length": 116, "protein_name": "Glycoprotein hormones alpha chain", "gene_name": "CGA", "organism": "Human", "refseq_name": "glycoprotein hormones alpha chain isoform 1 precursor", "refseq_ac": [ { "id": "NP_001239312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239312", "type": "external" } ], "gene_names_uniprotkb": "CGA", "gene_names_refseq": "CG-ALPHA; CGA; FSHA; GPA1; GPHA1; GPHa; HCG; LHA; TSHA", "protein_names_uniprotkb": "Glycoprotein hormones alpha chain; Anterior pituitary glycoprotein hormones common subunit alpha; CG-alpha; Choriogonadotropin alpha chain; Chorionic gonadotrophin subunit alpha; FSH-alpha; Follicle-stimulating hormone alpha chain; Follitropin alpha chain; LSH-alpha; Luteinizing hormone alpha chain; Lutropin alpha chain; TSH-alpha; Thyroid-stimulating hormone alpha chain; Thyrotropin alpha chain", "protein_names_refseq": "FSH-alpha; LSH-alpha; TSH-alpha; anterior pituitary glycoprotein hormones common subunit alpha; choriogonadotropin alpha chain; chorionic gonadotrophin subunit alpha; chorionic gonadotropin, alpha polypeptide; follicle-stimulating hormone alpha chain; follicle-stimulating hormone alpha subunit; follitropin alpha chain; glycoprotein hormones alpha chain isoform 1 precursor; glycoprotein hormones alpha chain; luteinizing hormone alpha chain; lutropin alpha chain; thyroid-stimulating hormone alpha chain; thyrotropin alpha chain", "tax_id": 9606, "disease": "prostate carcinoma (Disease Ontology:DOID:10286); breast cancer (Disease Ontology:DOID:1612); Leydig cell tumor (Disease Ontology:DOID:2696)", "pathway": " (hsa:1081); (R-HSA-193048); (R-HSA-193993); (R-HSA-209822); (R-HSA-209968); (R-HSA-375281); (R-HSA-418555); (R-HSA-8866910); (R-HSA-975578)", "pathway_count": 9, "publication_count": 190, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10094192;10343104;10406467;10464296;10497269;10648798;10814706;10913841;10988300;11007482;11237011;11445554;1150658;11514595;1158880;11707068;11726197;1191677;12036966;12039074;12045258;12058044;12106601;12180353;12417412;1279965;12832414;12860470;1333190;13549488;1457969;14671004;14744778;1517224;15316280;15561711;15662415;15765929;15769620;15870067;15951850;15972824;16123088;16313925;16527410;16651268;16687412;16754854;16834341;1688430;16910871;16923326;1709010;17095587;1712709;17168849;17175120;1722671;17466984;17986282;17998543;18044684;1820200;18318566;18431515;18577758;19006286;19105585;19144650;1922095;19318566;1944309;1944596;1967025;19843847;19876791;19879888;1991473;19929708;19936164;20112406;20381629;20581866;21036126;2121479;2163110;21657270;2197970;2243100;2244890;2339109;23584533;23684889;24068570;2417744;24687066;24692546;2491850;2494176;2534550;2553411;2553705;2558651;25772240;25811175;25961201;26308378;26398856;26417854;26774084;26832794;2770297;2871555;29393594;29443750;29557506;29602314;29741879;30833991;3127824;31279028;31399091;31983287;3207614;32226383;32377867;32497535;32540603;32618402;32715661;32769997;33049737;3335536;34341100;34352046;34846842;35289036;36241641;3783591;38194289;4745444;481597;4835135;5065401;6085243;6090951;6286817;6643471;67547;6774759;7215288;7410374;7462224;7635144;7649152;7650030;7891714;8026573;8075637;8188646;8196184;8202136;8340388;8514797;8524845;8547185;8672451;8702611;8806637;8808595;8895516;8898911;890569;9162057;9182571;9208814;9263355;9300077;9417641;9419371;9449027;9478973;9536209;9651336;9687504;9850080;9871428;9949196", "class_list": "", "function": "Analysis of the human chorionic gonadotropin protein at the intact level by HILIC-MS and comparison with RPLC-MS., [RefSeq, PubMed]; GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer. Erratum:[Nat Commun. 2021 Dec 16;12(1):7354. doi: 10.1038/s41467-021-27675-w. PMID: 34916535] Publication Status: Online-Only, [RefSeq, PubMed]; Myocardial perfusion SPECT as a potential mediator on circulating chromogranin A in patients with old myocardial infarction., [RefSeq, PubMed]; Prevalence and predictors of colonoscopic findings in patients with autoimmune gastritis., [RefSeq, PubMed]; Shared alpha chain of the active heterodimeric glycoprotein hormones thyrotropin/thyroid stimulating hormone/TSH, lutropin/luteinizing hormone/LH, follitropin/follicle stimulating hormone/FSH and choriogonadotropin/CG. These hormones bind specific receptors on target cells that in turn activate downstream signaling pathways., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 54, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 114, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity;GO:0016913 follicle-stimulating hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0016914 follicle-stimulating hormone complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0010469 regulation of signaling receptor activity", "synthesized_glycan_count": 0, "hit_score": 31.2, "record_id": "P01215-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52736-1", "uniprot_id": [ { "id": "ZN133_HUMAN", "url": "https://www.uniprot.org/uniprot/P52736", "type": "external" } ], "mass": 73388.0, "length": 654, "protein_name": "Zinc finger protein 133", "gene_name": "ZNF133", "organism": "Human", "refseq_name": "zinc finger protein 133 isoform a", "refseq_ac": [ { "id": "NP_001076799", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076799", "type": "external" } ], "gene_names_uniprotkb": "ZNF133; ZNF150", "gene_names_refseq": "ZNF133; ZNF150; pHZ-13; pHZ-66", "protein_names_uniprotkb": "Zinc finger protein 133; Zinc finger protein 150", "protein_names_refseq": "zinc finger protein 133 (clone pHZ-13); zinc finger protein 133 isoform a; zinc finger protein 150 (pHZ-66)", "tax_id": 9606, "disease": "", "pathway": " (hsa:7692); (R-HSA-212436)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;17934332;2163759;25576301;28218747;29437277;30851117;35051231;37221223;7557990;7649249;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation as a repressor., [UniProtKB]; The transcriptional repressor activity of ZNF133 is regulated by both the KRAB domain and the zinc finger motifs, and that the repressive effect by zinc finger motifs is mediated by PIAS1, [RefSeq, PubMed]; ZNF133 SNPs are associated with infliximab responsiveness in patients crohn's disease and ulcerative colitis., [RefSeq, PubMed]; ZNF133 is a potent suppressor in breast carcinogenesis through dampening L1CAM, a driver for tumor progression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5S4;B4DHU7;B4DIB8;B7ZAS1;F5H289;J3KQ11;J3KQJ0;Q53XU1;Q5JXV8;Q9BUV2;Q9H443", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P52736-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SYB0-1", "uniprot_id": [ { "id": "FRPD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SYB0", "type": "external" } ], "mass": 173437.0, "length": 1578, "protein_name": "FERM and PDZ domain-containing protein 1", "gene_name": "FRMPD1", "organism": "Human", "refseq_name": "FERM and PDZ domain-containing protein 1", "refseq_ac": [ { "id": "NP_055722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055722", "type": "external" } ], "gene_names_uniprotkb": "FRMPD1; FRMD2; KIAA0967", "gene_names_refseq": "FRMD2; FRMPD1", "protein_names_uniprotkb": "FERM and PDZ domain-containing protein 1; FERM domain-containing protein 2", "protein_names_refseq": "FERM and PDZ domain-containing protein 1; FERM domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:22844)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;16959974;18566450;23318951;24715725;25576301;25786224;25892735;27920218;28832583;29557506;29786170;31844290;32502341;32938616;34087483;35051231;36215666", "class_list": "", "function": "G allele at rs4878712 in FRMPD1 was associated with lower HIV-1 acquisition. G allele at this SNP was also associated with reduced FBXO10 and increased BCL2 expression levels, whereas higher BCL2 levels are known to reduce HIV replication and infectivity. Erratum:[PLoS One. 2015 May 29;10(5):e0129671. doi: 10.1371/journal.pone.0129671. PMID: 26023777] Publication Status: Online-Only, [RefSeq, PubMed]; LGN-TPR motifs are versatile and capable of recognizing multiple targets via diverse binding modes., [RefSeq, PubMed]; Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1., [UniProtKB, PubMed]; The PDZ and band 4.1 containing protein Frmpd1 regulates the subcellular location of activator of G-protein signaling 3 and its interaction with G-proteins., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 63, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DZC8;B7Z807;D3DRQ3;Q14C73;Q5HY96;Q9Y2H3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0090150 establishment of protein localization to membrane;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q5SYB0-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92562-1", "uniprot_id": [ { "id": "FIG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92562", "type": "external" } ], "mass": 103635.0, "length": 907, "protein_name": "Polyphosphoinositide phosphatase", "gene_name": "FIG4", "organism": "Human", "refseq_name": "polyphosphoinositide phosphatase", "refseq_ac": [ { "id": "NP_055660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055660", "type": "external" } ], "gene_names_uniprotkb": "FIG4; KIAA0274; SAC3", "gene_names_refseq": "ALS11; BOP; BTOP; CMT4J; FIG4; KIAA0274; SAC3; YVS; dJ249I4.1", "protein_names_uniprotkb": "Polyphosphoinositide phosphatase; 3.1.3.-; 3.1.3.16; 3.1.3.36; 3.1.3.86; Phosphatidylinositol 3,5-bisphosphate 5-phosphatase; SAC domain-containing protein 3; Serine-protein phosphatase FIG4", "protein_names_refseq": "FIG4 homolog, SAC domain containing lipid phosphatase; FIG4 homolog, SAC1 domain containing lipid phosphatase; FIG4 homolog, SAC1 lipid phosphatase domain containing; SAC domain-containing protein 3; Sac domain-containing inositol phosphatase 3; phosphatidylinositol 3,5-bisphosphate 5-phosphatase; polyphosphoinositide phosphatase; serine-protein phosphatase FIG4", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 11 (Disease Ontology:DOID:0060202); Yunis-Varon syndrome (Disease Ontology:DOID:0060589); bilateral parasagittal parieto-occipital polymicrogyria (Disease Ontology:DOID:0080923); Charcot-Marie-Tooth disease type 4J (Disease Ontology:DOID:0110184); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:9896); (R-HSA-1660514); (R-HSA-1660516); (R-HSA-1660517)", "pathway_count": 4, "publication_count": 126, "publication_id_list": "10101268;10419465;10559940;10567352;10764818;10766823;10805725;10806194;11237011;11279162;11302699;11706043;11716755;11733541;11923287;12270933;12324459;12847286;12890864;14527956;14659893;14660569;14722070;15716355;1655747;16787938;17555535;17556371;17572665;17651088;18524850;18950639;19118816;19211563;19668216;21081650;21655088;21705420;21872626;22544926;23481700;23623387;23818870;24397554;24598713;24714562;25418920;25576301;25869668;25880248;25892735;26375851;26496610;26728094;26811146;26992070;27600516;27846572;27862975;27920218;28228285;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30620550;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33098764;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34171305;34357683;34405274;34509645;34561969;35051231;35561310;35580925;36010968;36241641;36263704;37950760;7608176;7628435;7761412;8634694;8999962;9148941;9295334;9405935;9516481;9878262", "class_list": "", "function": "Clinical and genetic features of patients suffering from CMT4J., [RefSeq, PubMed]; Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:17556371, PubMed:33098764). Catalyzes the dephosphorylation of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) to form phosphatidylinositol 3-phosphate (PubMed:33098764). Has serine-protein phosphatase activity acting on PIKfyve to stimulate its lipid kinase activity, its catalytically activity being required for maximal PI(3,5)P2 production (PubMed:33098764). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide and although displaying preferences for PtdIns(3,5)P2, it is capable of hydrolyzing PtdIns(3,4,5)P3 and PtdIns(4,5)P2, at least in vitro (PubMed:17556371)., [UniProtKB, PubMed, PubMed]; PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor., [RefSeq, PubMed]; The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53H49;Q5TCS6", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity;GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity;GO:0043813 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity;GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0055037 recycling endosome;GO:0031902 late endosome membrane;GO:0031901 early endosome membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0006661 phosphatidylinositol biosynthetic process;GO:0046856 phosphatidylinositol dephosphorylation;GO:1903100 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q92562-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0B1-1", "uniprot_id": [ { "id": "FTO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0B1", "type": "external" } ], "mass": 58282.0, "length": 505, "protein_name": "Alpha-ketoglutarate-dependent dioxygenase FTO", "gene_name": "FTO", "organism": "Human", "refseq_name": "alpha-ketoglutarate-dependent dioxygenase FTO isoform 3", "refseq_ac": [ { "id": "NP_001073901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073901", "type": "external" } ], "gene_names_uniprotkb": "FTO; KIAA1752", "gene_names_refseq": "ALKBH9; BMIQ14; FTO; GDFD; IFEX9", "protein_names_uniprotkb": "Alpha-ketoglutarate-dependent dioxygenase FTO; 1.14.11.-; 1.14.11.53; Fat mass and obesity-associated protein; U6 small nuclear RNA (2'-O-methyladenosine-N(6)-)-demethylase FTO; U6 small nuclear RNA N(6)-methyladenosine-demethylase FTO; m6A(m)-demethylase FTO; mRNA (2'-O-methyladenosine-N(6)-)-demethylase FTO; mRNA N(6)-methyladenosine demethylase FTO; tRNA N1-methyl adenine demethylase FTO", "protein_names_refseq": "AlkB homolog 9; U6 small nuclear RNA (2'-O-methyladenosine-N(6)-)-demethylase FTO; U6 small nuclear RNA N(6)-methyladenosine-demethylase FTO; alpha-ketoglutarate-dependent dioxygenase FTO isoform 3; alpha-ketoglutarate-dependent dioxygenase FTO; fat mass and obesity associated; fat mass and obesity-associated protein; intragenic FTO exon 9 containing transcript; m6A(m)-demethylase FTO; mRNA (2'-O-methyladenosine-N(6)-)-demethylase FTO; mRNA N(6)-methyladenine demethylase; mRNA N(6)-methyladenosine demethylase FTO; tRNA N1-methyl adenine demethylase FTO", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); aortic valve disease 2 (Disease Ontology:DOID:0080334); traumatic brain injury (Disease Ontology:DOID:0081292); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); sciatic neuropathy (Disease Ontology:DOID:11446); cardiovascular system disease (Disease Ontology:DOID:1287); nuclear senile cataract (Disease Ontology:DOID:13963); transient cerebral ischemia (Disease Ontology:DOID:224); coronary artery disease (Disease Ontology:DOID:3393); renal cell carcinoma (Disease Ontology:DOID:4450); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); abdominal aortic aneurysm (Disease Ontology:DOID:7693); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); multiple myeloma (Disease Ontology:DOID:9538); diabetic neuropathy (Disease Ontology:DOID:9743); obesity (Disease Ontology:DOID:9970); lethal polymalformative syndrome, Boissel type (MONDO:MONDO:0013050)", "pathway": " (hsa:79068); (R-HSA-73943)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "11237011;17434869;17463248;17496892;18775698;18991276;19559399;19608861;20068231;20376003;22002720;22424782;22544926;22869377;22982992;23177736;23186163;23547775;24616105;24627050;24646999;24715725;24778178;25418920;25452335;25576301;25880248;25892735;26154972;26287746;26378117;26457839;26458103;26697951;26740239;26788058;26992070;27846572;27862975;28002401;28017614;28510447;28553460;28904123;29242379;29249359;29351928;29493099;29557506;30197295;30429286;30484775;31092671;31217245;31844290;31985880;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33925955;33968037;34171305;34405274;34433824;34509645;34683137;34725712;34932366;35051231;35132862;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37938771;38665916;39257882;39300486;39343042;39390397;39436191;39661064;39849461;40307207;40914422", "class_list": "", "function": "A genome-wide search for type 2 diabetes-susceptibility genes identified a common variant in the FTO gene that predisposes to diabetes through an effect on body mass index GeneRIF: Observational study and genome-wide association study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Comprehensive analysis of the m[6]A demethylase FTO in endothelial dysfunction by MeRIP sequencing., [RefSeq, PubMed]; FTO in oral diseases: Functions, mechanisms, and therapeutic potential. Review article, [RefSeq, PubMed]; FTO mediates the diabetic kidney disease progression through regulating the m[6]A modification of NLRP3. Publication Status: Online-Only, [RefSeq, PubMed]; Fat Mass and Obesity-Related (FTO) Gene Variant Is a Predictor of CVD in T2DM Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) GeneRIF: Association with obesity in adult and childre. Interestingly, this association receives clear confirmation under a Transmission Disequilibrium Test design which is robust to population stratification., [RefSeq, PubMed]; RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis (PubMed:22002720, PubMed:25452335, PubMed:26457839, PubMed:26458103, PubMed:28002401, PubMed:30197295). Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:22002720, PubMed:25452335, PubMed:26457839, PubMed:26458103, PubMed:30197295). M6A demethylation by FTO affects mRNA expression and stability (PubMed:30197295). Also able to demethylate m6A in U6 small nuclear RNA (snRNA) (PubMed:30197295). Mediates demethylation of N(6),2'-O-dimethyladenosine cap (m6A(m)), by demethylating the N(6)-methyladenosine at the second transcribed position of mRNAs and U6 snRNA (PubMed:28002401, PubMed:30197295). Demethylation of m6A(m) in the 5'-cap by FTO affects mRNA stability by promoting susceptibility to decapping (PubMed:28002401). Also acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs (PubMed:30197295). Has no activity towards 1-methylguanine (PubMed:20376003). Has no detectable activity towards double-stranded DNA (PubMed:20376003). Also able to repair alkylated DNA and RNA by oxidative demethylation: demethylates single-stranded RNA containing 3-methyluracil, single-stranded DNA containing 3-methylthymine and has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine (PubMed:18775698, PubMed:20376003). Ability to repair alkylated DNA and RNA is however unsure in vivo (PubMed:18775698, PubMed:20376003). Involved in the regulation of fat mass, adipogenesis and body weight, thereby contributing to the regulation of body size and body fat accumulation (PubMed:18775698, PubMed:20376003). Involved in the regulation of thermogenesis and the control of adipocyte differentiation into brown or white fat cells (PubMed:26287746). Regulates activity of the dopaminergic midbrain circuitry via its ability to demethylate m6A in mRNAs (By similarity). Plays an oncogenic role in a number of acute myeloid leukemias by enhancing leukemic oncogene-mediated cell transformation: acts by mediating m6A demethylation of target transcripts such as MYC, CEBPA, ASB2 and RARA, leading to promote their expression (PubMed:28017614, PubMed:29249359)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Recruitment of the m[6]A/m6Am demethylase FTO to target RNAs by the telomeric zinc finger protein ZBTB48. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 21, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A2RUH1;B2RNS0;Q0P676;Q7Z785", "ec_number_list": [ { "id": "1.14.11.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.51", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.33", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.33", "type": "external" }, { "id": "1.14.11.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.53", "type": "external" } ], "go_molecular_function": "GO:0016740 transferase activity;GO:0008198 ferrous iron binding;GO:1990984 tRNA demethylase activity;GO:0035515 oxidative RNA demethylase activity;GO:1990931 mRNA N6-methyladenosine dioxygenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0001659 temperature homeostasis;GO:0040014 regulation of multicellular organism growth;GO:0060612 adipose tissue development;GO:0006307 DNA alkylation repair;GO:0042245 RNA repair", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q9C0B1-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VW36-1", "uniprot_id": [ { "id": "FOCAD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VW36", "type": "external" } ], "mass": 200058.0, "length": 1801, "protein_name": "Focadhesin", "gene_name": "FOCAD", "organism": "Human", "refseq_name": "focadhesin isoform 1", "refseq_ac": [ { "id": "NP_060264", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060264", "type": "external" } ], "gene_names_uniprotkb": "FOCAD; KIAA1797", "gene_names_refseq": "FOCAD; KIAA1797; SCOLIV", "protein_names_uniprotkb": "Focadhesin", "protein_names_refseq": "focadhesin isoform 1", "tax_id": 9606, "disease": "liver cirrhosis (Disease Ontology:DOID:5082); liver disease, severe congenital (MONDO:MONDO:0859273)", "pathway": " (hsa:54914)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16877819;19204726;19608861;20601674;22427331;23481700;25418920;25712196;25892735;26856537;26929215;31473790;35622075;35864190;36215666;36284347;37730964", "class_list": "", "function": "Exosomal circKIAA1797 Regulates Cell Progression and Glycolysis by Targeting miR-4429/PBX3 Pathway in Gastric Cancer., [RefSeq, PubMed]; FOCAD Indel in a Family With Juvenile Polyposis Syndrome., [RefSeq, PubMed]; FOCAD loss impacts microtubule assembly, G2/M progression and patient survival in astrocytic gliomas., [RefSeq, PubMed]; KIAA1797 genetic variation is associated with heart rate. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for the maintenance of SKIC2 and SKIC3 proteostatic levels in the liver. May be involved in the regulation of RNA degradation by the exosome complex (PubMed:35864190). Potential tumor suppressor in gliomas., [UniProtKB, PubMed, PubMed]; Results identified cardiac FOCAD expression to be correlated with protein biosynthetic processes in the lung. mediator of this process between the heart and lung. Publication Status: Online-Only, [RefSeq, PubMed]; The data suggests that nonallelic germline deletions in the tumor suppressor gene FOCAD underlie moderate genetic predisposition to the development of polyposis and CRC, [RefSeq, PubMed]; This stduy showed that frequently deleted KIAA1797 gene encodes a novel focal adhesion complex protein with tumour suppressor function in gliomas., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 9848, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DRJ9;Q6ZME1;Q8IZG0;Q96JM8;Q96MS9;Q9BVF3;Q9NX87", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0060147 regulation of post-transcriptional gene silencing", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q5VW36-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15117-1", "uniprot_id": [ { "id": "FYB1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15117", "type": "external" } ], "mass": 85387.0, "length": 783, "protein_name": "FYN-binding protein 1", "gene_name": "FYB1", "organism": "Human", "refseq_name": "FYN-binding protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001230022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230022", "type": "external" } ], "gene_names_uniprotkb": "FYB1; FYB; SLAP130", "gene_names_refseq": "ADAP; FYB1; FYB; PRO0823; SLAP-130; SLAP130; THC3", "protein_names_uniprotkb": "FYN-binding protein 1; ADAP; Adhesion and degranulation promoting adaptor protein; FYB-120/130; FYN-T-binding protein; SLAP-130; SLP-76-associated phosphoprotein; p120/p130", "protein_names_refseq": "FYB-120/130; FYN-T-binding protein; FYN-binding protein 1 isoform 3; SLP-76-associated phosphoprotein; adhesion and degranulation-promoting adaptor protein; p120/p130", "tax_id": 9606, "disease": "thrombocytopenia (Disease Ontology:DOID:1588)", "pathway": " (hsa:2533); (R-HSA-202433); (R-HSA-391160)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10409671;10469599;10570256;10572074;10671560;10747096;10811803;10856234;10942756;11048639;11237011;11390650;11607830;11752630;12023008;14510693;14531999;15062083;15144186;15294972;15383453;15849195;16213021;16461356;16497976;16980616;17070842;17369261;17652306;18088087;18160138;18491316;18657508;19413330;19608861;19628875;19690332;19807924;20058876;22074159;23186163;25418920;25516138;25876182;26154972;26758079;26992070;27335501;27397612;27862975;28218747;28649982;28832583;28855257;29127148;29242379;29351928;29493099;29508533;29557506;29632711;29786170;30192525;30305305;30429286;31154438;31217245;31844290;31848261;32157095;32387766;32897882;32983136;33123756;33141586;34295339;34882057;35051231;35132862;35580925;35705054;36010968;36284347;37074911;40307207;40914422;7565724;8798379;8824201;9062191;9115214;9207119;9671755;9748251;9755858;9846482", "class_list": "", "function": "Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells (By similarity). May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton (PubMed:10747096, PubMed:16980616). Modulates the expression of IL2 (By similarity). Involved in platelet activation (By similarity). Prevents the degradation of SKAP1 and SKAP2 (PubMed:15849195). May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; FYB methylation in peripheral blood as a potential marker for the early-stage lung cancer: a case-control study in Chinese population., [RefSeq, PubMed]; Findings reveal that ADAP acts upstream of SLP-76 to convert labile, Ca(2+)-competent microclusters into stable adhesive junctions with enhanced signaling potential. Publication Status: Online-Only, [RefSeq, PubMed]; Results of this study indicate that a novel T cell adaptor protein, activation-dependent, raft-recruited ADAP-like phosphoprotein (ARAP), plays a unique role in T cells as a part of both the proximal activation signaling and inside-out signaling pathways that result in integrin activation and T cell adhesion, [RefSeq, PubMed]; The Multiple Roles of the Cytosolic Adapter Proteins ADAP, SKAP1 and SKAP2 for TCR/CD3 -Mediated Signaling Events. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]., [RefSeq]; Ubc9 is an essential regulator of ADAP where it is required for TCR-induced membrane recruitment of the small GTPase Rap1 and its effector protein RapL and for activation of the small GTPase Rac1 in T cell adhesion., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K2Y8;B4DLN2;E9PBV9;O00359;Q9NZI9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006955 immune response;GO:0007229 integrin-mediated signaling pathway;GO:0072659 protein localization to plasma membrane;GO:0050852 T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "O15117-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NZ1-1", "uniprot_id": [ { "id": "FOXN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NZ1", "type": "external" } ], "mass": 55215.0, "length": 517, "protein_name": "Forkhead box protein N4", "gene_name": "FOXN4", "organism": "Human", "refseq_name": "forkhead box protein N4", "refseq_ac": [ { "id": "NP_998761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_998761", "type": "external" } ], "gene_names_uniprotkb": "FOXN4", "gene_names_refseq": "FOXN4", "protein_names_uniprotkb": "Forkhead box protein N4", "protein_names_refseq": "forkhead box protein N4; forkhead/winged helix transcription factor FOXN4", "tax_id": 9606, "disease": "", "pathway": " (hsa:121643)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;15464224;29557506;35051231;35580925;36284347;37605566", "class_list": "", "function": "FOXN4 affects myocardial ischemia-reperfusion injury through HIF-1alpha/MMP2-mediated ferroptosis of cardiomyocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM, Mar 2008]., [RefSeq]; Transcription factor essential for neural and some non-neural tissues development, such as retina and lung respectively. Binds to an 11-bp consensus sequence containing the invariant tetranucleotide 5'-ACGC-3'. During development of the central nervous system, is required to specify the amacrine and horizontal cell fates from multipotent retinal progenitors while suppressing the alternative photoreceptor cell fates through activating DLL4-NOTCH signaling. Also acts synergistically with ASCL1/MASH1 to activate DLL4-NOTCH signaling and drive commitment of p2 progenitors to the V2b interneuron fates during spinal cord neurogenesis. In development of non-neural tissues, plays an essential role in the specification of the atrioventricular canal and is indirectly required for patterning the distal airway during lung development (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZMR4;Q96NZ0", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0000987 cis-regulatory region sequence-specific DNA binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0036302 atrioventricular canal development;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0008016 regulation of heart contraction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96NZ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05230-1", "uniprot_id": [ { "id": "FGF1_HUMAN", "url": "https://www.uniprot.org/uniprot/P05230", "type": "external" } ], "mass": 17460.0, "length": 155, "protein_name": "Fibroblast growth factor 1", "gene_name": "FGF1", "organism": "Human", "refseq_name": "fibroblast growth factor 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000791", "type": "external" } ], "gene_names_uniprotkb": "FGF1; FGFA", "gene_names_refseq": "AFGF; ECGF-beta; ECGFA; ECGFB; ECGF; FGF-1; FGF-alpha; FGF1; FGFA; GLIO703; HBGF-1; HBGF1", "protein_names_uniprotkb": "Fibroblast growth factor 1; Acidic fibroblast growth factor; ECGF; Endothelial cell growth factor; FGF-1; HBGF-1; Heparin-binding growth factor 1; aFGF", "protein_names_refseq": "beta-endothelial cell growth factor; endothelial cell growth factor, alpha; endothelial cell growth factor, beta; fibroblast growth factor 1 (acidic); fibroblast growth factor 1 isoform 1 precursor; heparin-binding growth factor 1", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); interstitial lung disease 1 (Disease Ontology:DOID:0060941); interstitial lung disease 2 (Disease Ontology:DOID:0060971); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); adult respiratory distress syndrome (Disease Ontology:DOID:11394); pulmonary edema (Disease Ontology:DOID:11396); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); leiomyoma (Disease Ontology:DOID:127); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); pulmonary sarcoidosis (Disease Ontology:DOID:13406); endometrial cancer (Disease Ontology:DOID:1380); cystic fibrosis (Disease Ontology:DOID:1485); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); schizophrenia (Disease Ontology:DOID:5419); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); extrinsic allergic alveolitis (Disease Ontology:DOID:841); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); cleft lip (Disease Ontology:DOID:9296); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2246); (R-HSA-109704); (R-HSA-1257604); (R-HSA-1839122); (R-HSA-1839130); (R-HSA-190322); (R-HSA-190370); (R-HSA-190371); (R-HSA-190372); (R-HSA-190373); (R-HSA-190375); (R-HSA-190377); (R-HSA-2033519); (R-HSA-2219530); (R-HSA-5654219); (R-HSA-5654221); (R-HSA-5654227); (R-HSA-5654228); (R-HSA-5654687); (R-HSA-5654688); (R-HSA-5654689); (R-HSA-5654693); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654704); (R-HSA-5654706); (R-HSA-5654710); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5654720); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-5655253); (R-HSA-5655302); (R-HSA-5655332); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-8851708)", "pathway_count": 41, "publication_count": 296, "publication_id_list": "10053006;10191262;10490103;10508167;10574949;10579907;10618369;10629055;10652257;10830168;10869344;10918587;11027663;11055896;11069186;11090077;11121055;11136978;11147812;11157491;11237011;11294897;11297579;11313946;11353842;11429702;11432880;11447289;11463336;11509569;11546808;11606067;11689702;11702783;11739186;11781872;11803464;11847269;11964394;11997436;12009017;12032311;12094235;12112473;12121613;12167717;12419216;12461689;12627230;12660731;12767043;12815057;12974390;1325671;1372643;1379698;1381348;14506247;14534538;14613973;14688794;14707138;14715624;14732692;14871245;15029211;15050920;15094036;15282208;15324302;15356145;15448205;1545823;15546878;15548653;15598814;15718470;15806171;15834429;15863029;15863030;15880580;16091734;16140923;16186508;16324873;16339315;16456541;16467200;16507368;16532037;1656221;16597617;16627759;16638743;16647110;16684964;16764984;16844695;16847462;16872596;1693186;1697263;1702556;1716764;1717925;17200115;17227708;17344846;17505008;17525745;17552943;17626883;17698633;17803937;17998941;18056464;18079394;18317450;18337450;18373495;18381441;18400376;18412956;18441324;18452557;18552176;18594509;18606717;18754654;18755892;18757403;18757432;18772890;18775330;18829560;18840094;1885605;18925875;18985070;1898771;19103595;19147536;19185485;19187780;19224897;19279408;19381019;19411071;19438505;19576174;19644473;19652666;19696444;19749790;19805105;19809159;19855393;19920141;19946327;19962665;20094046;20106510;20117945;20145243;20179196;20220137;20231295;20338997;20421966;20422052;20478380;20522708;20709759;20713702;20863990;21102635;21160078;21188471;21317208;21355848;21367659;21368164;21372320;21478295;21666749;21668414;21711248;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22321063;22569528;22588880;22589270;22750304;22802530;22837387;23103841;23175443;23298836;23303910;23443682;23469107;23558953;23575685;2393407;2427112;24588013;2474753;24897931;24937142;25219551;25467007;25781681;2590193;26085527;28778966;29557506;31135801;32157095;3523756;3527167;35580925;35818245;3732516;37659992;37783936;3778488;38253356;39074995;3964259;6148751;7504343;7521397;7543144;7559490;7637810;7647778;7719344;7744773;7773297;7809086;7874169;7935463;7972015;8052307;8264585;8394845;8493579;8589699;8599935;8622701;8640234;8645157;8652550;8657148;8663044;8665852;8710374;8754806;8755573;8780727;8798788;8841188;8845844;8939933;8950275;9045692;9139660;9154000;9182757;9279753;9299490;9343372;9438390;9480847;9502772;9538690;9539778;9604935;9632781;9655399;9660748;9700203;9719643;9730987;9736715;9857065;9895304;9927426", "class_list": "glycogene", "function": "FGF1 reduces cartilage injury in osteoarthritis via regulating AMPK/Nrf2 pathway., [RefSeq, PubMed]; FGF1. Review article, [RefSeq, PubMed]; Intracellular FGF1 protects cells from apoptosis through direct interaction with p53. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-143-3p Increases the Radiosensitivity of Breast Cancer Cells Through FGF1. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as a potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins. Binds to FGFR1 in the presence of heparin leading to FGFR1 dimerization and activation via sequential autophosphorylation on tyrosine residues which act as docking sites for interacting proteins, leading to the activation of several signaling cascades. Binds to integrin ITGAV:ITGB3. Its binding to integrin, subsequent ternary complex formation with integrin and FGFR1, and the recruitment of PTPN11 to the complex are essential for FGF1 signaling. Induces the phosphorylation and activation of FGFR1, FRS2, MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:18441324, PubMed:20422052). Can induce angiogenesis (PubMed:23469107)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The optimized priming effect of FGF-1 and FGF-2 enhances preadipocyte lineage commitment in human adipose-derived mesenchymal stem cells., [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 179, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 32, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5T0;D3DQF2;P07502;Q16588", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0044548 S100 protein binding;GO:0008083 growth factor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:1903672 positive regulation of sprouting angiogenesis;GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 29.7, "record_id": "P05230-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4ZHG4-1", "uniprot_id": [ { "id": "FNDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4ZHG4", "type": "external" } ], "mass": 205558.0, "length": 1894, "protein_name": "Fibronectin type III domain-containing protein 1", "gene_name": "FNDC1", "organism": "Human", "refseq_name": "fibronectin type III domain-containing protein 1 precursor", "refseq_ac": [ { "id": "NP_115921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115921", "type": "external" } ], "gene_names_uniprotkb": "FNDC1; FNDC2; KIAA1866; MEL4B3", "gene_names_refseq": "AGS8; FNDC1; FNDC2; MEL4B3; bA243O10.1; dJ322A24.1", "protein_names_uniprotkb": "Fibronectin type III domain-containing protein 1; Activation-associated cDNA protein; Expressed in synovial lining protein", "protein_names_refseq": "activation-associated cDNA protein; expressed in synovial lining protein; fibronectin type III domain containing 2; fibronectin type III domain-containing protein 1 precursor; fibronectin type III domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84624)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1038/emboj.2013.79;11237011;14657397;16098131;23584533;26826188;27726376;29093164;29557506;29632711;30379171;30459171;31530096;31848261;32387766;33899120;35051231;35255438;36073217;37132497;9704633", "class_list": "", "function": "Knockdown of AGS8 inhibited vascular endothelial growth factor (VEGF)-induced tube formation, as well as VEGF-stimulated cell growth and migration., [RefSeq, PubMed]; MEL4B3 is a novel mRNA induced in skin tumors and regulated by TGF-beta and pro-inflammatory cytokines, [RefSeq, PubMed]; May be an activator of G protein signaling., [UniProtKB, UniProtKB, UniProtKB]; Mechanical stretching of FN-III1 may induce fibrillogenesis through a partially unfolded intermediate, [RefSeq, PubMed]; The findings elaborated the biological role of fibronectin type III domain containing 1 in gastric cancer and potential mechanism of action, possibly providing a new insight for future clinical diagnosis or even molecular therapy, [RefSeq, PubMed]; The role of miR-143-3p/FNDC1 axis on the progression of non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The silencing of FNDC1 inhibits the tumorigenesis of breast cancer cells via modulation of the PI3K/Akt signaling pathway., [RefSeq, PubMed]; Up-regulated FNDC1 accelerates stemness and chemoradiation resistance in colorectal cancer cells., [RefSeq, PubMed]; [FNDC1 is highly expressed in lung adenocarcinoma and closely related with poor prognosis]., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 110, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "A6H8X2;B7ZBR4;B7ZBR5;B9EK49;Q5JPI0;Q5VU31;Q5VU32;Q5VXX4;Q70CQ6;Q96JG1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q4ZHG4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09619-1", "uniprot_id": [ { "id": "PGFRB_HUMAN", "url": "https://www.uniprot.org/uniprot/P09619", "type": "external" } ], "mass": 123968.0, "length": 1106, "protein_name": "Platelet-derived growth factor receptor beta", "gene_name": "PDGFRB", "organism": "Human", "refseq_name": "platelet-derived growth factor receptor beta isoform 1 precursor", "refseq_ac": [ { "id": "NP_002600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002600", "type": "external" } ], "gene_names_uniprotkb": "PDGFRB; PDGFR1; PDGFR", "gene_names_refseq": "CD140B; IBGC4; IMF1; JTK12; KOGS; OPDKD; PDGFR-1; PDGFR1; PDGFRB; PDGFR; PENTT", "protein_names_uniprotkb": "Platelet-derived growth factor receptor beta; 2.7.10.1; Beta platelet-derived growth factor receptor; Beta-type platelet-derived growth factor receptor; CD140 antigen-like family member B; PDGF-R-beta; PDGFR-1; PDGFR-beta; Platelet-derived growth factor receptor 1", "protein_names_refseq": "Activated tyrosine kinase PDGFRB; CD140 antigen-like family member B; PDGF-R-beta; PDGFR-beta; beta-type platelet-derived growth factor receptor; platelet-derived growth factor receptor 1; platelet-derived growth factor receptor beta isoform 1 precursor; platelet-derived growth factor receptor, beta polypeptide", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); autism spectrum disorder (Disease Ontology:DOID:0060041); basal ganglia calcification (Disease Ontology:DOID:0060230); infantile myofibromatosis 1 (Disease Ontology:DOID:0070666); infantile myofibromatosis (Disease Ontology:DOID:0080109); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); myeloproliferative disorder with eosinophilia (Disease Ontology:DOID:0111344); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); sciatic neuropathy (Disease Ontology:DOID:11446); oligohydramnios (Disease Ontology:DOID:12215); extrahepatic cholestasis (Disease Ontology:DOID:13619); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); myeloproliferative neoplasm (Disease Ontology:DOID:2226); Leydig cell tumor (Disease Ontology:DOID:2696); carcinoma (Disease Ontology:DOID:305); glioblastoma (Disease Ontology:DOID:3068); breast carcinoma (Disease Ontology:DOID:3459); middle cerebral artery infarction (Disease Ontology:DOID:3525); choriocarcinoma (Disease Ontology:DOID:3594); renal cell carcinoma (Disease Ontology:DOID:4450); schizophrenia (Disease Ontology:DOID:5419); nephrolithiasis (Disease Ontology:DOID:585); severe nonproliferative diabetic retinopathy (Disease Ontology:DOID:8946); acute myeloid leukemia (Disease Ontology:DOID:9119); acroosteolysis-keloid-like lesions-premature aging syndrome (MONDO:MONDO:0011150); skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome (MONDO:MONDO:0014704); ocular pterygium-digital keloid dysplasia syndrome (MONDO:MONDO:0976136)", "pathway": " (hsa:5159); (R-HSA-1257604); (R-HSA-186763); (R-HSA-186797); (R-HSA-2219530); (R-HSA-5673001); (R-HSA-6811558)", "pathway_count": 7, "publication_count": 293, "publication_id_list": "10191262;10336465;10373546;10391677;10454568;10508167;10508235;10579907;10733900;10752619;10805725;10821867;10869344;11027258;11027663;11090077;11136978;11147812;11237011;11297552;11313946;11331881;11546808;11567151;11702783;11710529;11803464;11882663;11896612;12032311;12062403;12094235;12121613;12167717;12181402;12369853;12538485;12706723;12767043;12907457;1311092;1313434;1314164;1325671;1330535;1374684;1375321;1396585;14506247;14707138;14966296;15087372;15207811;15207817;15271984;15340161;15356145;1545823;15492236;15546878;15615512;15641795;15718470;15763428;15767546;15834429;15902258;15994317;16288304;16331269;16339315;1639841;16436588;16456541;16474853;1653029;1661130;16627759;16647110;16684964;1709159;17147227;1716764;17200115;17344846;17367763;17403678;17419949;17604334;17620338;17626883;17943726;17961557;17998941;18079394;18317450;1846866;18483217;18491316;18559524;18567737;18593464;18594509;18606717;18754654;18755892;18775330;18829560;18925875;1898771;19185485;19275932;19279408;19411071;19564526;19576174;19644473;19805105;19920141;19962665;20231295;20338997;20478380;20494825;20522708;20529858;20534510;20713702;20813817;21098708;21102635;21188471;21251937;21317208;21368164;21372320;21376233;21478295;21668414;21679854;2170111;21733313;21779497;21779505;21827948;21938754;21976531;21984976;21993244;22120714;22188813;22569528;22588880;22589270;22750304;22802530;22933705;23103841;23255827;23303910;23443682;23575685;23583652;23731537;23731542;24065723;24165129;24648957;2466336;2472219;24897931;24937142;25219551;25328409;25454926;2550144;2554309;25569182;25576301;25597754;25781681;26085527;26104298;26279204;26599395;26631574;27048651;27397612;27846572;27862975;2835772;28435517;2846185;28487538;2850496;28778966;29093181;29137923;29242379;29263244;29391424;29408302;29557506;29964125;30389923;30429286;30573803;31085175;31135801;31154438;31844290;32157095;32387766;33093618;33450762;33509954;33592498;33968037;34185709;34360683;34433824;34509645;34932366;35051231;35066967;35580925;36284347;37938771;38665916;38732165;38741091;39191789;6148751;7530043;7536927;7637810;7678051;7679113;7680644;7683666;7685273;7687537;7688466;7691811;7692233;7744773;7809086;7876130;7935391;7935463;7972015;8052307;8119896;8181064;8183548;8195171;8302579;8382612;8382774;8388543;8394845;8443409;8493579;8538796;8555205;8564419;8617789;8645157;8647855;8657148;8657151;8665852;8670861;8710374;8900172;8939933;8940081;9153411;9285559;9334164;9373237;9484840;9488729;9512716;9546424;9604935;9642269;9736715;9739761;9742401;9895304;9927426;9989826", "class_list": "", "function": "Ethnicity-Based Variations in Focal Adhesion Kinase Signaling in Glioblastoma Gene Expression: A Study of the Puerto Rican Hispanic Population. Publication Status: Online-Only, [RefSeq, PubMed]; PTPN14 aggravates neointimal hyperplasia via boosting PDGFRbeta signaling in smooth muscle cells. Publication Status: Online-Only, [RefSeq, PubMed]; Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]., [RefSeq]; Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 34, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 91, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 30, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B5A957;Q8N5L4", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0004672 protein kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005096 GTPase activator activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0014805 smooth muscle adaptation;GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 30.8, "record_id": "P09619-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41439-1", "uniprot_id": [ { "id": "FOLR3_HUMAN", "url": "https://www.uniprot.org/uniprot/P41439", "type": "external" } ], "mass": 27885.0, "length": 245, "protein_name": "Folate receptor gamma", "gene_name": "FOLR3", "organism": "Human", "refseq_name": "folate receptor gamma isoform 1 precursor", "refseq_ac": [ { "id": "NP_000795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000795", "type": "external" } ], "gene_names_uniprotkb": "FOLR3", "gene_names_refseq": "FOLR3; FR-G; FR-gamma; FRgamma; gamma-hFR", "protein_names_uniprotkb": "Folate receptor gamma; FR-gamma; Folate receptor 3", "protein_names_refseq": "folate receptor 3 (gamma); folate receptor gamma isoform 1 precursor", "tax_id": 9606, "disease": "spermatogenic failure 4 (Disease Ontology:DOID:0070176); azoospermia (Disease Ontology:DOID:14227)", "pathway": " (hsa:2352); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "11237011;14759258;19048631;23650620;31222486;32581311;33634983;36192006;37756380;38273401;7727426;8110752;8692836", "class_list": "", "function": "A Novel Immunomodulatory Mechanism by Which Vitamin D Influences Folate Receptor 3 Expression to Reduce COVID-19 Severity. Review article, [RefSeq, PubMed]; A folate receptor 3 SNP promotes mitochondria-induced clonogenicity of CML leukemia cells: Implications for treatment free remission., [RefSeq, PubMed]; Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Isoform Short does not bind folate., [UniProtKB]; Blood FOLR3 methylation dysregulations and heterogeneity in non-small lung cancer highlight its strong associations with lung squamous carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Plasma Homocysteine Concentration is Associated with the Expression Level of Folate Receptor 3. Publication Status: Online-Only, [RefSeq, PubMed]; Secreted folate receptor gamma drives fibrogenesis in metabolic dysfunction-associated steatohepatitis by amplifying TGFbeta signaling in hepatic stellate cells., [RefSeq, PubMed]; This gene encodes a member of the folate receptor (FOLR) family of proteins, which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of this gene may be elevated in ovarian and primary peritoneal carcinoma. This gene is present in a gene cluster on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WXH3;J3KQ90;Q05C14", "ec_number_list": [], "go_molecular_function": "GO:0005542 folic acid binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane;GO:0009897 external side of plasma membrane;GO:0035580 specific granule lumen;GO:1904724 tertiary granule lumen", "go_biological_process": "GO:0035036 sperm-egg recognition;GO:0007155 cell adhesion;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0015884 folic acid transport", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P41439-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCE7-1", "uniprot_id": [ { "id": "SMUF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCE7", "type": "external" } ], "mass": 86114.0, "length": 757, "protein_name": "E3 ubiquitin-protein ligase SMURF1", "gene_name": "SMURF1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase SMURF1 isoform 3", "refseq_ac": [ { "id": "NP_001186776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186776", "type": "external" } ], "gene_names_uniprotkb": "SMURF1; KIAA1625", "gene_names_refseq": "SMURF1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase SMURF1; 2.3.2.26; HECT-type E3 ubiquitin transferase SMURF1; SMAD ubiquitination regulatory factor 1; SMAD-specific E3 ubiquitin-protein ligase 1; hSMURF1", "protein_names_refseq": "E3 ubiquitin ligase SMURF1; E3 ubiquitin-protein ligase SMURF1 isoform 3; E3 ubiquitin-protein ligase SMURF1; HECT-type E3 ubiquitin transferase SMURF1; Smad ubiquitination regulatory factor 1; Smad-specific E3 ubiquitin ligase 1; hSMURF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57154); (R-HSA-201451); (R-HSA-2173788); (R-HSA-2173791); (R-HSA-4608870); (R-HSA-5632684); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-983168)", "pathway_count": 9, "publication_count": 245, "publication_id_list": "10215629;10433824;10458166;10519551;10564661;10572046;10587654;10712517;10757800;10877843;10911365;10966113;11016919;11027307;11062501;11121043;11158580;11163210;11278251;11350924;11447115;11509558;11571290;11714695;11779505;11960000;12000792;12050670;12068298;12123571;12138125;12151385;12426310;12519765;12592392;12646216;12724779;12738770;12821673;12857866;12923053;12953056;14528312;14611647;14657501;14701756;14718519;14734113;15115751;15138260;15198976;15224091;15224092;15300262;15496141;15571818;15703179;15761148;15781469;15937478;16027725;16061177;16061793;16115867;16136078;16140942;16155214;16421188;16421275;16459297;16459298;16595681;16611981;16651542;16672363;16687519;16728642;16740475;16849449;16954532;16980583;17029022;17068149;17115028;17311849;17356069;17442700;17641202;17786208;18452278;18455992;18497258;18541707;18662542;18827223;18832070;19028597;19305393;19352404;19368795;19371734;19379695;19452197;19489725;19533801;19549984;19592253;19622347;19666503;19684112;19758997;19808967;19818708;19851334;19852954;19874575;19878745;19937093;19940261;19955409;19996169;20014402;20016067;20061380;20100835;20129061;20154143;20360384;20460306;20487519;20512148;20643644;20818436;20844016;20889716;20937913;20956384;21258369;21402695;21572392;21695114;21791611;21801010;21878643;21931630;21983142;22007132;22045334;22344298;22391301;22422618;2261476;22982193;23087404;23140627;23186163;23332756;23333304;23403054;23481700;23535009;23719536;23725801;23943595;23955340;23999003;24072710;24302888;24582806;24845016;24854174;24925320;25260729;25576301;25880248;26091038;26778333;26992070;27036023;27846572;27920218;28218747;28228285;28514659;28904123;29242379;29393594;29437277;29557506;29632046;29786170;30315122;30410026;30429286;30779550;30833945;31092671;31154438;31217245;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33298915;33392160;33912179;33968037;33981976;34171305;34509645;34561969;35051231;35251023;35318648;35580925;36010968;36241641;36284347;37330913;37537194;37890777;37994046;38301893;7644468;7791754;8119126;8653785;8893010;9136927;9215638;9233797;9335507;9380723;9436979;9601642;9668046;9674432;9856985;9874371", "class_list": "", "function": "A Golgi-resident GPR108 cooperates with E3 ubiquitin ligase Smurf1 to suppress antiviral innate immunity., [RefSeq, PubMed]; CRM1-dependent nuclear export of Smurf1 is essential for the negative regulation of TGF-beta signaling by Smad7., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA. Promotes ubiquitination and subsequent proteasomal degradation of MAVS (PubMed:23087404). Acts as a positive regulator of smoothened signaling pathway by mediating ubiquitination of PTCH1, leading to endocytosis and lysosomal degradation of PTCH1 (By similarity). Acts as an antagonist of TGF-beta signaling by ubiquitinating TGFBR1 and targeting it for degradation (PubMed:21791611). Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Plasma membrane localization of Smad7 by Smurf1 requires the C2 domain of Smurf1 and is essential for the inhibitory effect of Smad7 in the transforming growth factor-beta signaling pathway, [RefSeq, PubMed]; SMURF1 activates the cGAS/STING/IFN-1 signal axis by mediating YY1 ubiquitination to accelerate the progression of lupus nephritis., [RefSeq, PubMed]; Smurf1 and Smurf2 mediated polyubiquitination and degradation of RNF220 suppresses Shh-group medulloblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Smurf1 polyubiquitinates on K285/K282 of the kinases Mst1/2 to attenuate their tumor-suppressor functions., [RefSeq, PubMed]; The E3 ligase SMURF1 stabilizes p27 via UbcH7 catalyzed K29-linked ubiquitin chains to promote cell migration SMURF1-UbcH7 K29 ubiquitination of p27 and cell migration., [RefSeq, PubMed]; This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D279;B7ZMB6;B9EGV3;O75853;Q547Q3;Q9UJT8", "ec_number_list": [ { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0061630 ubiquitin protein ligase activity;GO:0005160 transforming growth factor beta receptor binding;GO:0046332 SMAD binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030424 axon", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0030154 cell differentiation;GO:0072659 protein localization to plasma membrane;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0030509 BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "Q9HCE7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0B6-1", "uniprot_id": [ { "id": "KLC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0B6", "type": "external" } ], "mass": 68935.0, "length": 622, "protein_name": "Kinesin light chain 2", "gene_name": "KLC2", "organism": "Human", "refseq_name": "kinesin light chain 2 isoform 2", "refseq_ac": [ { "id": "NP_001128246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128246", "type": "external" } ], "gene_names_uniprotkb": "KLC2", "gene_names_refseq": "KLC2", "protein_names_uniprotkb": "Kinesin light chain 2; KLC 2", "protein_names_refseq": "KLC 2; kinesin light chain 2 isoform 2", "tax_id": 9606, "disease": "nonsyndromic deafness (Disease Ontology:DOID:0050563); SPOAN syndrome (Disease Ontology:DOID:0060491); Alzheimer's disease 1 (Disease Ontology:DOID:0080348)", "pathway": " (hsa:64837); (R-HSA-2132295); (R-HSA-5625970); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 5, "publication_count": 240, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10445031;10480952;10540230;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10809954;10913441;10921873;11172815;11230166;11237011;11493604;11529500;11684289;11689559;11689693;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;11933159;12047556;12070132;12078484;12198549;12368902;12742663;12748383;1406973;14504276;14654841;14731593;15029241;15037235;15272311;15302935;15326200;15616190;15632110;15749704;15813748;15911768;16030262;1607388;16181339;16242130;16262723;1631136;16571679;16618111;16633337;1680566;16824007;16912714;16926190;16940185;16964243;17081983;17113389;17142755;17253781;17283181;17322306;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18046453;18182008;18212344;18287528;18292509;18342609;18524849;18669648;18767875;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;19413330;19415658;1956401;19564404;1957170;19631211;19651622;19664994;19664995;19758564;20005805;20058876;20068231;20136777;20357002;20427317;20462495;20534429;20637885;21116285;2121367;21219331;21406692;2142332;21436401;21441454;21550981;21689688;21725060;21844168;2190094;22013193;22094269;22172677;22304919;23186163;23301498;23396477;2391366;24366607;2521221;2522352;25364732;25436559;25492864;26385635;26811146;27920218;28063628;28228285;28832583;29242379;29393594;29485866;29493099;29632046;30315122;30429286;30779550;31154438;31222486;3130248;3134048;31844290;31848261;32157095;32161166;32357974;32502341;32938616;33043033;33298915;33912179;33936100;33968037;33981976;34171305;34185709;34357683;35051231;35580925;36010968;36215666;37055376;37217939;40914422;7481823;7528108;7539720;7592972;7650016;7667286;7787244;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8548803;8599929;8602245;8620540;8642258;8687433;8769096;8849454;8909537;8912005;8939989;8947036;9075930;9114004;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9606180;9751720;9822636;9990005", "class_list": "", "function": "Kinesin is a microtubule-associated force-producing protein that play a role in organelle transport., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Kinesin is a microtubule-associated force-producing protein that plays a role in organelle transport. The light chain functions in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (Probable). Through binding with PLEKHM2 and ARL8B, recruits kinesin-1 to lysosomes and hence direct lysosomes movement toward microtubule plus ends (PubMed:22172677)., [UniProtKB, PubMed]; The kinesin light chain-2, a target of mRNA stabilizing protein HuR, inhibits p53 protein phosphorylation to promote radioresistance in NSCLC., [RefSeq, PubMed]; The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MXL7;B2RDY4;Q9H9C8;Q9HA20", "ec_number_list": [], "go_molecular_function": "GO:0045296 cadherin binding;GO:0019894 kinesin binding", "go_cellular_component": "GO:0016938 kinesin I complex;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0007018 microtubule-based movement;GO:0032418 lysosome localization", "synthesized_glycan_count": 0, "hit_score": 24.3, "record_id": "Q9H0B6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59990-1", "uniprot_id": [ { "id": "KR121_HUMAN", "url": "https://www.uniprot.org/uniprot/P59990", "type": "external" } ], "mass": 9737.0, "length": 96, "protein_name": "Keratin-associated protein 12-1", "gene_name": "KRTAP12-1", "organism": "Human", "refseq_name": "keratin-associated protein 12-1", "refseq_ac": [ { "id": "NP_859014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859014", "type": "external" } ], "gene_names_uniprotkb": "KRTAP12-1; KAP12.1; KRTAP12.1", "gene_names_refseq": "KAP12.1; KRTAP12-1; KRTAP12.1", "protein_names_uniprotkb": "Keratin-associated protein 12-1; High sulfur keratin-associated protein 12.1; Keratin-associated protein 12.1", "protein_names_refseq": "high sulfur keratin-associated protein 12.1; keratin-associated protein 12-1; keratin-associated protein 12.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:353332); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "14962103;15028290;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0VAS3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P59990-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWL6-1", "uniprot_id": [ { "id": "KIRR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWL6", "type": "external" } ], "mass": 75093.0, "length": 708, "protein_name": "Kin of IRRE-like protein 2", "gene_name": "KIRREL2", "organism": "Human", "refseq_name": "kin of IRRE-like protein 2 isoform d precursor", "refseq_ac": [ { "id": "NP_001316459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316459", "type": "external" } ], "gene_names_uniprotkb": "KIRREL2; NEPH3; PRO19646", "gene_names_refseq": "FILTRIN; KIRREL2; NEPH3; NLG1", "protein_names_uniprotkb": "Kin of IRRE-like protein 2; Kin of irregular chiasm-like protein 2; Nephrin-like protein 3", "protein_names_refseq": "kin of IRRE like 2; kin of IRRE-like protein 2 isoform d precursor; kin of irregular chiasm-like protein 2; nephrin-like gene 1; nephrin-like protein 3", "tax_id": 9606, "disease": "nephrotic syndrome (Disease Ontology:DOID:1184); kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:84063); (R-HSA-373753)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10393930;10541305;10611248;11230166;11237011;11340081;11562357;11733557;12504092;12660326;12668668;12837264;12846735;12865409;12975309;14570703;14633607;15331416;15340161;15545998;15579503;15634346;15843475;15994232;16525419;16543952;16630808;16741999;17893108;17923684;18033240;19443634;19703278;20233749;21697133;24219158;28218747;28334007;29242379;29632046;30315122;30833945", "class_list": "", "function": "Filtrin can act as autoantigen, and autoantibodies against these can be detected in patients with type 1 diabetes., [RefSeq, PubMed]; Identification of Filtrin as a member of nephrin-like proteins. GeneRIF: Filtrin is a novel protein with substantial homology to nephrin. It is a transmembrane protein of the immunoglobulin superfamily (apparent molecular weight 107 kDa) and most prominently expressed in the pancreas, lymph nodes as well as kidney glomerulus., [RefSeq, PubMed]; KIRREL2 protein is a beta-cell-expressed Ig domain protein and may be involved in pancreas development or beta cell function, [RefSeq, PubMed]; May regulate basal insulin secretion., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; NF-kappaB and Sp1 response elements are essential for the basal transcriptional activity of the Neph3 promoter. Publication Status: Online-Only, [RefSeq, PubMed]; SNP V353M confers high risk of renal failure in primary hematuric glomerulopathies and predisposition to microalbuminuria in the general population Publication Status: Online-Only, [RefSeq, PubMed]; Summarize the current knowledge of the functions of nephrin and Neph-family proteins and transcription factors and agents that control nephrin and Neph3 gene expression. Review article, [RefSeq, PubMed]; This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 3, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "C9JHF1;C9JJ76;F1T0I2;Q6P1R1;Q7Z5P1;Q7Z5P2;Q96IQ8;Q9H0T1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0016020 membrane;GO:0034451 centriolar satellite;GO:0036057 slit diaphragm", "go_biological_process": "GO:0007155 cell adhesion;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q6UWL6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVJ6-1", "uniprot_id": [ { "id": "UT14A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVJ6", "type": "external" } ], "mass": 87978.0, "length": 771, "protein_name": "U3 small nucleolar RNA-associated protein 14 homolog A", "gene_name": "UTP14A", "organism": "Human", "refseq_name": "U3 small nucleolar RNA-associated protein 14 homolog A isoform 2", "refseq_ac": [ { "id": "NP_001159693", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159693", "type": "external" } ], "gene_names_uniprotkb": "UTP14A; SDCCAG16", "gene_names_refseq": "NYCO16; SDCCAG16; UTP14A; Utp14; dJ537K23.3", "protein_names_uniprotkb": "U3 small nucleolar RNA-associated protein 14 homolog A; Antigen NY-CO-16; Serologically defined colon cancer antigen 16", "protein_names_refseq": "U3 small nucleolar RNA-associated protein 14 homolog A isoform 2; U3 small nucleolar RNA-associated protein 14 homolog A; UTP14, U3 small nucleolar ribonucleoprotein, homolog A; UTP14A small subunit (SSU) processome component; antigen NY-CO-16; serologically defined colon cancer antigen 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:10813); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 153, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12429849;15199136;15289605;16037817;16043514;16381836;16565220;16738141;16782898;16964243;17081983;17189298;17287340;17353269;17412707;17525332;17636026;18065403;18077418;18438418;18452278;18669648;19007248;19033376;19106111;19332556;19413330;19463982;19564402;19651622;19690332;19691289;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21078665;21097556;21406692;22072790;22190735;22195017;22645359;22916032;23033978;23186163;23301498;23391857;23439679;23481700;23482395;2388630;24086612;24275569;24424021;24550520;24714562;24715725;25218447;25411247;25525153;25576301;25645385;25653167;25851604;25969445;26085946;26154972;26196125;26237581;26375851;26728094;26768311;26992070;27084949;27397612;27600516;27846572;27920218;28218747;28228285;28411811;28832583;28834231;28855257;28904123;29242379;29437277;29493099;29557506;29632711;29786170;29789417;30315122;30410026;30429286;30524438;30582406;30779550;31496055;31844290;31848261;32157095;32265295;32350084;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;34932366;35051231;35251023;35318648;35580925;36284347;37938771;40914422;9211966;9482744;9512526", "class_list": "", "function": "HUTP14a physically interacts with p53 and functionally promotes p53 turn-over, [RefSeq, PubMed]; May be required for ribosome biogenesis., [UniProtKB]; Results suggest that UTP14a expression is correlated with tumor proliferation and invasion; higher expression of UTP14a is a predictor of poor prognosis in patients with esophageal squamous cell carcinoma (ESCC). Additionally, knockdown of UTP14a inhibits cell proliferation and invasion in ESCC cell line, ECA109., [RefSeq, PubMed]; This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7A3;A8MVQ1;B4DQ08;E9PEL7;Q5JYF1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0030490 maturation of SSU-rRNA;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q9BVJ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AG3-1", "uniprot_id": [ { "id": "S2546_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AG3", "type": "external" } ], "mass": 46174.0, "length": 418, "protein_name": "Mitochondrial outer membrane protein SLC25A46", "gene_name": "SLC25A46", "organism": "Human", "refseq_name": "mitochondrial outer membrane protein SLC25A46 isoform 2", "refseq_ac": [ { "id": "NP_001290178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290178", "type": "external" } ], "gene_names_uniprotkb": "SLC25A46; TB1", "gene_names_refseq": "HMSN6B; PCH1E; SLC25A46", "protein_names_uniprotkb": "Mitochondrial outer membrane protein SLC25A46; Solute carrier family 25 member 46", "protein_names_refseq": "mitochondrial outer membrane protein SLC25A46 isoform 2; mitochondrial outer membrane protein SLC25A46", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 6 (Disease Ontology:DOID:0080068); pontocerebellar hypoplasia type 1E (Disease Ontology:DOID:0112330); neuropathy (Disease Ontology:DOID:870)", "pathway": " (hsa:91137)", "pathway_count": 1, "publication_count": 103, "publication_id_list": "10513815;11237011;11466336;15104674;1651562;16949250;17308301;18669648;18691976;20068231;20112406;20166139;22645359;23266187;23481700;24029068;24275569;24397554;24714562;24715725;25418920;25469497;25502872;25576301;25645385;25802875;25880248;26024233;26154972;26168012;26375851;26464032;26811146;26929215;26992070;27390132;27430653;27543974;27600516;27846572;27920218;28063628;28218747;28228285;28467828;28514659;28637197;28649982;28653766;28832583;28860189;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32259769;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34185709;34211107;34357683;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36284347;36977595;37938771;39534244", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Data indicate four families with recessive mutations in solute carrier family 25 member 46 protein (SLC25A46)., [RefSeq, PubMed]; SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy., [RefSeq, PubMed]; The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion. Publication Status: Online-Only, [RefSeq, PubMed]; The rs10056340 single nucleotide polymorphism was significantly associated with atopic dermatitis., [RefSeq, PubMed]; This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]., [RefSeq]; Transmembrane protein of the mitochondrial outer membrane that controls mitochondrial organization (PubMed:26168012, PubMed:27390132, PubMed:27543974). May regulate the assembly of the MICOS (mitochondrial contact site and cristae organizing system) complex which is essential to the biogenesis and dynamics of mitochondrial cristae, the inwards folds of the inner mitochondrial membrane (PubMed:27390132). Through its interaction with the EMC (endoplasmic reticulum membrane protein complex), could regulate mitochondrial lipid homeostasis and thereby mitochondrial fission (PubMed:27390132)., [UniProtKB, PubMed, PubMed, PubMed]; Transmembrane protein of the mitochondrial outer membrane that controls mitochondrial organization. May regulate the assembly of the MICOS (mitochondrial contact site and cristae organizing system) complex which is essential to the biogenesis and dynamics of mitochondrial cristae, the inwards folds of the inner mitochondrial membrane. Through its interaction with the EMC (endoplasmic reticulum membrane protein complex), could regulate mitochondrial lipid homeostasis and thereby mitochondrial fission., [UniProtKB, UniProtKB]; Using exome sequencing, we identified biallelic disease-segregating loss-of-function mutations in SLC25A46 in both families. Our study adds to the definition of the SLC25A46-associated phenotypic spectrum that includes neonatal fatalities due to pontocerebellar hypoplasia as the severe extreme., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K2F2;B3KRE6;B4DTA3;D3DSZ6;D6R9W7;Q04197", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0090149 mitochondrial membrane fission;GO:0055091 phospholipid homeostasis;GO:0042407 cristae formation;GO:0000266 mitochondrial fission;GO:0061564 axon development", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q96AG3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK99-1", "uniprot_id": [ { "id": "FBX3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK99", "type": "external" } ], "mass": 54561.0, "length": 471, "protein_name": "F-box only protein 3", "gene_name": "FBXO3", "organism": "Human", "refseq_name": "F-box only protein 3 isoform 1", "refseq_ac": [ { "id": "NP_036307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036307", "type": "external" } ], "gene_names_uniprotkb": "FBXO3; FBX3", "gene_names_refseq": "FBA; FBX3; FBXO3", "protein_names_uniprotkb": "F-box only protein 3", "protein_names_refseq": "F-box only protein 3 isoform 1; F-box only protein 3; F-box protein FBX3", "tax_id": 9606, "disease": "", "pathway": " (hsa:26273)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10531037;11230166;11237011;18809579;24403578;24714562;25418920;25576301;25880248;26037928;26154972;26929215;26992070;27010866;27397612;27846572;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29769354;29786170;30315122;30429286;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32983136;33592498;33626035;33717175;33912179;33968037;33981976;34171305;34185709;34433824;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36580660;37938771;38134227;39366381", "class_list": "", "function": "(Microbial infection) Associates with the Rift valley fever virus NSs to form a remodeled E3 ligase that triggers efficient proteasomal degradation of targeted proteins. The filamentous E3 ligase targets the TFIIH complex leading to robust inhibition of antiviral immunity and enhances viral pathogenesis., [UniProtKB, PubMed]; FBXO3 stabilizes USP4 and Twist1 to promote PI3K-mediated breast cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Fbx3 formed SCF(Fbx3) ubiquitin ligase and promoted the degradation of HIPK2 and p300 by the ubiquitin-proteasome pathway, [RefSeq, PubMed]; Substrate recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex, SCF(FBXO3), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Mediates the ubiquitination of HIPK2 and probably that of EP300, leading to rapid degradation by the proteasome. In the presence of PML, HIPK2 ubiquitination still occurs, but degradation is prevented. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. The SCF(FBXO3) also acts as a regulator of inflammation by mediating ubiquitination and degradation of FBXL2 in response to lipopolysaccharide (LPS). The SCF(FBXO3) complex specifically recognizes FBXL2 phosphorylated at 'Thr-404' and promotes its ubiquitination., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KY16;D3DR05;Q86X90;Q9H0V2;Q9NUX2", "ec_number_list": [], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0006508 proteolysis;GO:0032496 response to lipopolysaccharide;GO:0050727 regulation of inflammatory response;GO:0016567 protein ubiquitination;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9UK99-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H469-1", "uniprot_id": [ { "id": "FXL15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H469", "type": "external" } ], "mass": 32998.0, "length": 300, "protein_name": "F-box/LRR-repeat protein 15", "gene_name": "FBXL15", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 15", "refseq_ac": [ { "id": "NP_077302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077302", "type": "external" } ], "gene_names_uniprotkb": "FBXL15; FBXO37", "gene_names_refseq": "FBXL15; FBXO37; Fbl15; JET", "protein_names_uniprotkb": "F-box/LRR-repeat protein 15; F-box only protein 37", "protein_names_refseq": "F-box only protein 37; F-box/LRR-repeat protein 15; pleckstrin and Sec7 domain protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79176); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 150, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21572392;21778237;21863050;21940857;22306028;22424782;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27846572;28115426;28296622;28832583;28904123;29153394;29242379;29557506;30315122;30429286;30610225;31844290;32005965;32157095;32284348;32938616;32983136;33141586;33298915;33444648;33592498;33968037;34509645;35051231;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SMURF1, thereby acting as a positive regulator of the BMP signaling pathway. Required for dorsal/ventral pattern formation and bone mass maintenance. Also mediates ubiquitination of SMURF2 and WWP2., [UniProtKB, PubMed]; We identified the known APC/C regulator Cdh1 and the F-box protein Fbxl15 as specific modulators of N-cyclin B1-luciferase steady-state levels and turnover. Collectively, our studies suggest that analyzing the steady-state levels of luciferase fusion proteins in parallel facilitates identification of specific regulators of protein turnover., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L4J8;B1AKX8;B1AKX9;B1AKY0;B1AKY1;C9JWA4;Q0D2Q3;Q49AL7;Q5JWA5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0000086 G2/M transition of mitotic cell cycle;GO:0016567 protein ubiquitination;GO:0030513 positive regulation of BMP signaling pathway;GO:0009953 dorsal/ventral pattern formation;GO:0030510 regulation of BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q9H469-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UN86-1", "uniprot_id": [ { "id": "G3BP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UN86", "type": "external" } ], "mass": 54121.0, "length": 482, "protein_name": "Ras GTPase-activating protein-binding protein 2", "gene_name": "G3BP2", "organism": "Human", "refseq_name": "ras GTPase-activating protein-binding protein 2 isoform a", "refseq_ac": [ { "id": "NP_036429", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036429", "type": "external" } ], "gene_names_uniprotkb": "G3BP2; KIAA0660", "gene_names_refseq": "G3BP2", "protein_names_uniprotkb": "Ras GTPase-activating protein-binding protein 2; G3BP-2; GAP SH3 domain-binding protein 2", "protein_names_refseq": "G3BP-2; GAP SH3 domain-binding protein 2; GTPase activating protein (SH3 domain) binding protein 2; Ras-GTPase activating protein SH3 domain-binding protein 2; Rasputin homolog; ras GTPase-activating protein-binding protein 2 isoform a; ras GTPase-activating protein-binding protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9908); (R-HSA-9705671)", "pathway_count": 2, "publication_count": 195, "publication_id_list": "10969074;11237011;11466336;12019269;12692549;12759408;15004565;15208624;16959974;17081983;17322306;18452278;18491316;18669648;18684830;18691976;18767875;18991276;19413330;19651622;19664995;19690332;20068231;21406692;22121020;22941947;23186163;23279204;23481700;24029068;24129315;24366607;24714562;24715725;25218447;25418920;25469497;25576301;25645385;25810538;25892735;26154972;26375851;26410532;26728094;26811146;26929215;26992070;27022092;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28649982;28657654;28832583;28834231;28855257;28904123;29242379;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30404792;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31530632;31717259;31844290;31848261;31850239;31981475;31998317;32157095;32161166;32265295;32302570;32302571;32302572;32350084;32353859;32357974;32387766;32428392;32488085;32589897;32726803;32728199;32897882;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33214551;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34087483;34110168;34166398;34171305;34185709;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34561969;34597346;34932366;35051231;35102342;35138101;35254053;35318648;35561310;35580925;35589951;35643212;35977029;36010968;36241641;36284347;36581221;36878903;37051252;37217939;37461019;37938771;38640983;38665916;39413984;40596516;40914422", "class_list": "", "function": "Chemotherapy-induced exosomal circBACH1 promotes breast cancer resistance and stemness via miR-217/G3BP2 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Exosomal miRNA-92a derived from cancer-associated fibroblasts promote invasion and metastasis in breast cancer by regulating G3BP2., [RefSeq, PubMed]; Exosomal microRNA-363 mediates the destructive effect of M1 macrophages on chondrocytes by repressing G3BP2., [RefSeq, PubMed]; Scaffold protein that plays an essential role in cytoplasmic stress granule formation which acts as a platform for antiviral signaling (PubMed:23279204, PubMed:32302570, PubMed:32302571, PubMed:32302572). Plays an essential role in stress granule formation (PubMed:27022092, PubMed:32302570, PubMed:32302571, PubMed:32302572, PubMed:35977029). Stress granules are membraneless compartments that store mRNAs and proteins, such as stalled translation pre-initiation complexes, in response to stress (PubMed:32302570, PubMed:32302571, PubMed:32302572). Promotes formation of stress granules phase-separated membraneless compartment by undergoing liquid-liquid phase separation (LLPS) upon unfolded RNA-binding: functions as a molecular switch that triggers RNA-dependent LLPS in response to a rise in intracellular free RNA concentrations (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; USP7- and PRMT5-dependent G3BP2 stabilization drives de novo lipogenesis and tumorigenesis of HNSC. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K6X1;O60606;O75149;Q9UPA1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0140693 molecular condensate scaffold activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0010494 cytoplasmic stress granule;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:0045087 innate immune response;GO:0051260 protein homooligomerization;GO:0034063 stress granule assembly;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "Q9UN86-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CD0-1", "uniprot_id": [ { "id": "FBXL8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CD0", "type": "external" } ], "mass": 40516.0, "length": 374, "protein_name": "F-box/LRR-repeat protein 8", "gene_name": "FBXL8", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 8", "refseq_ac": [ { "id": "NP_060848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060848", "type": "external" } ], "gene_names_uniprotkb": "FBXL8; FBL8", "gene_names_refseq": "FBL8; FBXL8", "protein_names_uniprotkb": "F-box/LRR-repeat protein 8; F-box and leucine-rich repeat protein 8; F-box protein FBL8", "protein_names_refseq": "F-box protein FBL8; F-box/LRR-repeat protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:55336); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19913121;19940261;20628086;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28832583;29153394;30610225;31844290;32005965;32284348;32488085;32938616;33122824;33444648;33592498;36855778;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Fbxl8 suppresses lymphoma growth and hematopoietic transformation through degradation of cyclin D3., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SCF-FBXL8 contributes to liver metastasis and stem-cell-like features in colorectal cancer cells by mediating ubiquitination and degradation of TP53., [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex., [UniProtKB]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NUM0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q96CD0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2L6-1", "uniprot_id": [ { "id": "FRM4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2L6", "type": "external" } ], "mass": 118047.0, "length": 1034, "protein_name": "FERM domain-containing protein 4B", "gene_name": "FRMD4B", "organism": "Human", "refseq_name": "FERM domain-containing protein 4B", "refseq_ac": [ { "id": "NP_055938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055938", "type": "external" } ], "gene_names_uniprotkb": "FRMD4B; GRSP1; KIAA1013", "gene_names_refseq": "6030440G05Rik; FRMD4B; GRSP1", "protein_names_uniprotkb": "FERM domain-containing protein 4B; GRP1-binding protein GRSP1", "protein_names_refseq": "FERM domain-containing protein 4B; GRP1-binding protein GRSP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23150)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;18088087;19913121;20124441;20628086;20718813;24715725;25880248;26154972;26992070;27543614;28218747;28832583;29242379;29314611;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30379171;30524438;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33912179;33968037;34087483;34357683;34509645;35051231;35580925;37938771", "class_list": "", "function": "Association between the intronic rs6787362 FRMD4B SNP and ischemic cardiomyopathy in a European-derived population, but not FRMD4B variants as susceptibility factors in common heart failure GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex. Plays a redundant role with FRMD4A in epithelial polarization., [UniProtKB, UniProtKB]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SNP is located in a 3' intronic region of the FRMD4B gene. FRMD4B as novel susceptibility loci for advanced heart failure., [RefSeq, PubMed]; This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8TAI3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005912 adherens junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0090162 establishment of epithelial cell polarity", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9Y2L6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y613-1", "uniprot_id": [ { "id": "FHOD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y613", "type": "external" } ], "mass": 126551.0, "length": 1164, "protein_name": "FH1/FH2 domain-containing protein 1", "gene_name": "FHOD1", "organism": "Human", "refseq_name": "FH1/FH2 domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_037373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037373", "type": "external" } ], "gene_names_uniprotkb": "FHOD1; FHOS1; FHOS", "gene_names_refseq": "FHOD1; FHOS", "protein_names_uniprotkb": "FH1/FH2 domain-containing protein 1; FHOS; Formin homolog overexpressed in spleen 1; Formin homology 2 domain-containing protein 1", "protein_names_refseq": "FH1/FH2 domain-containing protein 1 isoform 2; FH1/FH2 domain-containing protein 1; formin homolog overexpressed in spleen 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:29109)", "pathway_count": 1, "publication_count": 97, "publication_id_list": "10352228;11237011;12665801;12677009;14576350;15051728;15138285;15302935;15878344;16361249;17322306;18088087;18220336;18239683;18452278;18669648;18691976;18694941;18767875;19413330;20058876;20068231;21106951;22424782;23186163;24275569;24366607;24715725;25418920;25645385;26154972;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28855257;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30315122;30379171;30429286;30779550;30833945;31154438;31217245;31530632;31657439;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32502341;32727404;32897882;32938616;32983136;33141586;33298915;33472039;33592498;33912179;33968037;33981976;34087483;34171305;34357683;34509645;34561969;35051231;35132862;35318648;35561310;35580925;36010968;36241641;36284347;37211949;37938771;38665916", "class_list": "", "function": "FHOD1 is upregulated in glioma cells and attenuates ferroptosis of glioma cells by targeting HSPB1 signaling., [RefSeq, PubMed]; FHOD1 plays a critical role in the spatial and temporal coordination of cellular stress fiber dynamics without disrupting the formation of stress fiber networks., [RefSeq, PubMed]; FHOS mediates an interaction between GLUT4/IRAP (insulin-responsive aminopeptidase) -containing vesicles and the cytoskeleton and may participate in exocytosis and/or retention of this membrane compartment, [RefSeq, PubMed]; Multiple formin proteins participate in glioblastoma migration. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the assembly of F-actin structures, such as stress fibers. Depends on the Rho-ROCK cascade for its activity. Contributes to the coordination of microtubules with actin fibers and plays a role in cell elongation. Acts synergistically with ROCK1 to promote SRC-dependent non-apoptotic plasma membrane blebbing., [UniProtKB, PubMed, PubMed, PubMed]; Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins., [RefSeq, PubMed]; This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q59F76;Q6Y1F2;Q76MS8;Q8N521", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0007015 actin filament organization;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051496 positive regulation of stress fiber assembly;GO:0051492 regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9Y613-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF40-1", "uniprot_id": [ { "id": "FNIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF40", "type": "external" } ], "mass": 130555.0, "length": 1166, "protein_name": "Folliculin-interacting protein 1", "gene_name": "FNIP1", "organism": "Human", "refseq_name": "folliculin-interacting protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001008738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008738", "type": "external" } ], "gene_names_uniprotkb": "FNIP1; KIAA1961", "gene_names_refseq": "FNIP1; IMD93", "protein_names_uniprotkb": "Folliculin-interacting protein 1", "protein_names_refseq": "folliculin-interacting protein 1 isoform 2", "tax_id": 9606, "disease": "immunodeficiency 93 (Disease Ontology:DOID:0061063)", "pathway": " (hsa:96459); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "11237011;15854902;15878852;16098514;17028174;17470430;18403135;18497260;18604198;18663353;18669648;18804346;19651622;19664994;19690332;20068231;20381137;22053050;22575674;22980980;23186163;23481700;23723238;24081491;24095279;24275569;24714562;25126726;25259925;25263562;25418920;25457612;25561175;25567906;25576301;25645385;25819761;25892735;26154972;26375851;26449471;26586190;26728094;26811146;26972053;26992070;27308486;27353360;27487210;27543614;27600516;27648300;27846572;27893789;28066558;28199306;28199315;28904123;29053970;29056322;29123071;29236692;29437277;29557506;29848618;30061680;30181260;30315122;30410026;30651352;30699359;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32181500;32350084;32357974;32387766;32502341;32897882;32905580;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34405274;34932366;35051231;35580925;36010968;36284347;37079666;37772772;37938771;38253038;38838134;39531497;7499430", "class_list": "", "function": "Binding partner of the GTPase-activating protein FLCN: involved in the cellular response to amino acid availability by regulating the non-canonical mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3 (PubMed:17028174, PubMed:18663353, PubMed:24081491, PubMed:37079666). Required to promote FLCN recruitment to lysosomes and interaction with Rag GTPases, leading to activation of the non-canonical mTORC1 signaling (PubMed:24081491). In low-amino acid conditions, component of the lysosomal folliculin complex (LFC) on the membrane of lysosomes, which inhibits the GTPase-activating activity of FLCN, thereby inactivating mTORC1 and promoting nuclear translocation of TFEB and TFE3 (By similarity). Upon amino acid restimulation, disassembly of the LFC complex liberates the GTPase-activating activity of FLCN, leading to activation of mTORC1 and subsequent inactivation of TFEB and TFE3 (PubMed:37079666). Together with FLCN, regulates autophagy: following phosphorylation by ULK1, interacts with GABARAP and promotes autophagy (PubMed:25126726). In addition to its role in mTORC1 signaling, also acts as a co-chaperone of HSP90AA1/Hsp90: following gradual phosphorylation by CK2, inhibits the ATPase activity of HSP90AA1/Hsp90, leading to activate both kinase and non-kinase client proteins of HSP90AA1/Hsp90 (PubMed:27353360, PubMed:30699359). Acts as a scaffold to load client protein FLCN onto HSP90AA1/Hsp90 (PubMed:27353360). Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). Also acts as a core component of the reductive stress response by inhibiting activation of mitochondria in normal conditions: in response to reductive stress, the conserved Cys degron is reduced, leading to recognition and polyubiquitylation by the CRL2(FEM1B) complex, followed by proteasomal (By similarity). Required for B-cell development (PubMed:32905580)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1 activation and tumor progression in pancreatic cancer., [RefSeq, PubMed]; Induction of lysosomal and mitochondrial biogenesis by AMPK phosphorylation of FNIP1., [RefSeq, PubMed]; Muscle-bone cross-talk through the FNIP1-TFEB-IGF2 axis is associated with bone metabolism in human and mouse., [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Results suggest that FLCN, mutated in Birt-Hogg-Dube syndrome, and its interacting partner FNIP1 may be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways., [RefSeq, PubMed]; This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism and nutrient sensing by modulating the AMPK and target of rapamycin signaling pathways. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "D6RJH5;Q86T47;Q9BUT0", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0019899 enzyme binding;GO:0046872 metal ion binding;GO:0051087 protein-folding chaperone binding;GO:0042030 ATPase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005765 lysosomal membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0002327 immature B cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0031334 positive regulation of protein-containing complex assembly;GO:0030183 B cell differentiation", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q8TF40-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02792-1", "uniprot_id": [ { "id": "FRIL_HUMAN", "url": "https://www.uniprot.org/uniprot/P02792", "type": "external" } ], "mass": 20020.0, "length": 175, "protein_name": "Ferritin light chain", "gene_name": "FTL", "organism": "Human", "refseq_name": "ferritin light chain", "refseq_ac": [ { "id": "NP_000137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000137", "type": "external" } ], "gene_names_uniprotkb": "FTL", "gene_names_refseq": "FTL1; FTL; LFTD; NBIA3", "protein_names_uniprotkb": "Ferritin light chain; Ferritin L subunit", "protein_names_refseq": "epididymis secretory sperm binding protein; ferritin L subunit; ferritin L-chain; ferritin light chain; ferritin light polypeptide-like 3; ferritin, light polypeptide", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); neurodegeneration with brain iron accumulation 3 (Disease Ontology:DOID:0110737); hyperferritinemia-cataract syndrome (Disease Ontology:DOID:0111256); neurodegenerative disease (Disease Ontology:DOID:1289); candidiasis (Disease Ontology:DOID:1508); basal ganglia disease (Disease Ontology:DOID:679); L-ferritin deficiency (MONDO:MONDO:0014274)", "pathway": " (hsa:2512); (R-HSA-3000480); (R-HSA-432722); (R-HSA-6798695); (R-HSA-917937)", "pathway_count": 5, "publication_count": 191, "publication_id_list": "10224290;10394364;10597293;10651831;10686426;10722588;11237011;11323407;11564734;11590181;11604418;11694590;11820786;11994746;12453412;12488451;12504026;12761161;12763022;12847263;12958161;1339697;14576842;14609958;15001581;15044468;15102850;15201052;15531878;15537541;16116125;16143108;16155256;16237101;16274220;16377569;16407072;16510471;16525990;16790936;16882874;16926412;16984918;17116749;17179669;17332894;17709607;18194661;1852209;18991276;19073604;19176363;19227971;1946430;19531498;19762596;19762597;19911804;19923220;20159981;20360967;20550936;20810988;20849212;20888598;20956340;21078325;21081667;2154449;21782039;2251254;22570530;2318890;23197261;23481700;23615448;23650620;23940258;24695223;24714562;24715725;25418920;25502872;25576301;25880248;25892735;26154972;26375851;26728094;26992070;27452731;27726376;27846572;27862975;27893789;27920218;28228285;28467828;28832583;28834231;28904123;29242379;29314611;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30192525;3023856;30315122;30429286;30626607;30833945;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31998317;32157095;32162841;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34078123;34171305;34211107;34357683;34405274;34433824;34509645;3467373;34932366;35051231;35154160;35251023;35561310;35572557;35580925;36215666;36241641;36284347;36446230;37118836;3754330;37938771;3840162;3858810;6088540;6255257;6653779;7607209;7983023;8041788;8127896;8374173;8429030;8524399;8670264;8692836;8695634;8706699;8751442;8784195;9225214;9465098;9468508;9511720;9548586", "class_list": "", "function": "Ferritin light chain deficiency-induced ferroptosis is involved in preeclampsia pathophysiology by disturbing uterine spiral artery remodelling., [RefSeq, PubMed]; Microglial CD68 and L-ferritin upregulation in response to phosphorylated-TDP-43 pathology in the amyotrophic lateral sclerosis brain. Publication Status: Online-Only, [RefSeq, PubMed]; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). Delivery to lysosomes by the cargo receptor NCOA4 for autophagic degradation and release or iron (PubMed:24695223)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4B9;Q6IBT7;Q7Z2W1;Q86WI9;Q8WU07;Q96AU9;Q96CU0;Q9BTZ8", "ec_number_list": [], "go_molecular_function": "GO:0005506 iron ion binding;GO:0042802 identical protein binding;GO:0008198 ferrous iron binding;GO:0008199 ferric iron binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0006826 iron ion transport", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "P02792-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBI6-1", "uniprot_id": [ { "id": "GBG12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBI6", "type": "external" } ], "mass": 8006.0, "length": 72, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12", "gene_name": "GNG12", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12", "refseq_ac": [ { "id": "NP_061329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061329", "type": "external" } ], "gene_names_uniprotkb": "GNG12", "gene_names_refseq": "GNG12; HG3A", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12", "protein_names_refseq": "G-protein gamma-12 subunit; guanine nucleotide binding protein (G protein), gamma 12; guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12; heterotrimeric guanine nucleotide-binding protein 3A", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:55970); (R-HSA-1296041); (R-HSA-163359); (R-HSA-202040); (R-HSA-381676); (R-HSA-392170); (R-HSA-392451); (R-HSA-392851); (R-HSA-400042); (R-HSA-4086398); (R-HSA-416476); (R-HSA-416482); (R-HSA-418217); (R-HSA-418555); (R-HSA-418592); (R-HSA-418594); (R-HSA-418597); (R-HSA-420092); (R-HSA-428930); (R-HSA-432040); (R-HSA-456926); (R-HSA-500657); (R-HSA-6814122); (R-HSA-8964315); (R-HSA-8964616); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9856530); (R-HSA-997272)", "pathway_count": 30, "publication_count": 482, "publication_id_list": 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"class_list": "", "function": "GNG12 regulates PD-L1 expression by activating NF-kappaB signaling in pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction., [UniProtKB]; Low GNG12 Expression Predicts Adverse Outcomes: A Potential Therapeutic Target for Osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; Results showed some evidence of differentially methylated cg25189904 in GNG12 gene mediating the effect of exposure to maternal smoking on schizophrenia-related outcomes. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q69YP5;Q9BRV5", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0070062 extracellular exosome;GO:0005834 heterotrimeric G-protein complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 48.5, "record_id": "Q9UBI6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Z02-1", "uniprot_id": [ { "id": "HIPK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Z02", "type": "external" } ], "mass": 130843.0, "length": 1210, "protein_name": "Homeodomain-interacting protein kinase 1", "gene_name": "HIPK1", "organism": "Human", "refseq_name": "homeodomain-interacting protein kinase 1 isoform 2", "refseq_ac": [ { "id": "NP_689909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689909", "type": "external" } ], "gene_names_uniprotkb": "HIPK1; KIAA0630; MYAK; NBAK2", "gene_names_refseq": "HIPK1; Myak; Nbak2", "protein_names_uniprotkb": "Homeodomain-interacting protein kinase 1; 2.7.11.1; Nuclear body-associated kinase 2", "protein_names_refseq": "homeodomain interacting protein kinase 1-like protein; homeodomain-interacting protein kinase 1 isoform 2; nuclear body associated kinase 2b; nuclear body-associated kinase 2", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); depressive disorder (Disease Ontology:DOID:1596); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:204851); (R-HSA-2032785); (R-HSA-5578768); (R-HSA-6804756)", "pathway_count": 4, "publication_count": 165, "publication_id_list": "10435622;10500146;10570149;10587520;10604467;10673500;10673501;10710310;10880574;10884347;11237011;11239457;11447225;11511362;11546806;11551930;11740489;11780126;12064478;12393879;12529400;12702766;12851404;12914926;12968034;14559895;14702041;15053879;15146390;15592455;15701637;15866171;16322561;16332960;16390825;16497976;1672777;17016520;17108107;17344846;17349958;17591690;17660514;18219322;18490454;18579750;18691976;19121998;19324876;19324877;19646965;19664994;19690332;19934029;19965871;20068231;20110263;20959462;21317932;2144260;23000554;23186163;23481700;23485397;23676219;24145406;24559171;24714562;24715725;24874608;25202235;25218447;25418920;25576301;25645385;25772364;25880248;25892735;26154972;26280087;26728094;26768311;26817948;26990595;26992070;27600516;27846572;27862975;27869121;27920218;28063628;28218747;28228285;28289210;28314751;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30410026;30429286;30524438;31217245;31637018;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32506827;32897882;32938616;32938750;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34723781;34785661;34925382;34932366;35051231;35254053;35318648;35561310;35580925;36010968;36052886;36241641;36284347;37098980;37938771;38498023;39531497;40307207;9584153;9651244;9925639", "class_list": "", "function": "Abemaciclib is a potent inhibitor of DYRK1A and HIP kinases involved in transcriptional regulation. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of circ-ZNF644 alleviates LPS-induced HK2 cell injury via miR-335-5p/HIPK1 axis., [RefSeq, PubMed]; HIPK1 Inhibition Protects against Pathological Cardiac Hypertrophy by Inhibiting the CREB-C/EBPbeta Axis., [RefSeq, PubMed]; MicroRNA-889-3p restrains the proliferation and epithelial-mesenchymal transformation of lung cancer cells via down-regulation of Homeodomain-interacting protein kinase 1., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by derepression and promoting apoptosis. May be involved in anti-oxidative stress responses. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. Promotes angiogenesis and to be involved in erythroid differentiation. May be involved in malignant squamous cell tumor formation. Phosphorylates PAGE4 at 'Thr-51' which is critical for the ability of PAGE4 to potentiate the transcriptional activator activity of JUN (PubMed:24559171)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyr352 as a Predominant Phosphosite in the Understudied Kinase and Molecular Target, HIPK1: Implications for Cancer Therapy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NJ34;O75125;Q5SQL2;Q5SQL4;Q5SQL5;Q8IYD7;Q8NDN5;Q8NEB6;Q8TBZ1", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0060059 embryonic retina morphogenesis in camera-type eye;GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation;GO:0045766 positive regulation of angiogenesis;GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q86Z02-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCN6-1", "uniprot_id": [ { "id": "GPVI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCN6", "type": "external" } ], "mass": 36866.0, "length": 339, "protein_name": "Platelet glycoprotein VI", "gene_name": "GP6", "organism": "Human", "refseq_name": "platelet glycoprotein VI isoform 1 precursor", "refseq_ac": [ { "id": "NP_001077368", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077368", "type": "external" } ], "gene_names_uniprotkb": "GP6", "gene_names_refseq": "BDPLT11; GP6; GPIV; GPVI", "protein_names_uniprotkb": "Platelet glycoprotein VI; GPVI; Glycoprotein 6", "protein_names_refseq": "glycoprotein 6; platelet collagen receptor; platelet glycoprotein VI isoform 1 precursor", "tax_id": 9606, "disease": "atrial fibrillation (Disease Ontology:DOID:0060224); platelet-type bleeding disorder 11 (Disease Ontology:DOID:0111057); disseminated intravascular coagulation (Disease Ontology:DOID:11247); coronary thrombosis (Disease Ontology:DOID:11847); blood platelet disease (Disease Ontology:DOID:2218); coronary artery disease (Disease Ontology:DOID:3393); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:51206); (R-HSA-114604); (R-HSA-202733); (R-HSA-75892)", "pathway_count": 4, "publication_count": 118, "publication_id_list": "10026222;10469124;10606205;10764623;10961879;11027634;11207550;11237011;11256994;11262396;11481033;11564780;11779189;11812992;11943772;12070135;12208882;12469115;12782713;12813055;12832405;14529530;14615387;15000751;15528364;15681301;15708849;15721307;1591491;16014566;16102042;16174766;16258728;16297198;16405521;16585556;16691243;16737840;16783819;16861347;16938345;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17616532;17625065;18589439;1874735;18955485;19279206;1939645;19409513;19549989;19552682;19700402;19850008;20414836;20946164;21193412;21552524;21659548;22267732;23945545;24043627;24715725;24764293;2538457;2841328;28736554;29242379;29557506;30524438;31154438;31439947;31611695;35051231;37068592;37175486;3872140;38900973;468991;7509040;7521878;7624799;8163559;8166770;8246984;8314844;8617742;8639781;8673706;8986718;8990121;9028946;9052782;9169774;9242610;9280292;9295288;9331419;9382878;9438848;9693095;9763524;9768361;9895304", "class_list": "", "function": "Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src kinases (likely FYN or LYN) and SYK, the adapter protein LAT and leads to the activation of PLCG2., [UniProtKB, PubMed, PubMed]; Differential Regulation of GPVI-Induced Btk and Syk Activation by PKC, PKA and PP2A in Human Platelets. Publication Status: Online-Only, [RefSeq, PubMed]; Protease-activated receptors and glycoprotein VI cooperatively drive the platelet component in thromboelastography., [RefSeq, PubMed]; Soluble glycoprotein VI predicts abdominal aortic aneurysm growth rate and is a novel therapeutic target., [RefSeq, PubMed]; This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; [review]role of GP6 in platelet activation and blood clotting; blockade of collagen binding to GPVI Review article, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9HCN7;Q9UIF2", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005518 collagen binding;GO:1990782 protein tyrosine kinase binding;GO:0038023 signaling receptor activity;GO:0038064 collagen receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031012 extracellular matrix;GO:0045121 membrane raft;GO:0070062 extracellular exosome", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0030168 platelet activation;GO:0070527 platelet aggregation;GO:1901731 positive regulation of platelet aggregation;GO:0007167 enzyme-linked receptor protein signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q9HCN6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100001000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00604-1", "uniprot_id": [ { "id": "NDP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00604", "type": "external" } ], "mass": 15044.0, "length": 133, "protein_name": "Norrin", "gene_name": "NDP", "organism": "Human", "refseq_name": "norrin precursor", "refseq_ac": [ { "id": "NP_000257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000257", "type": "external" } ], "gene_names_uniprotkb": "NDP; EVR2", "gene_names_refseq": "EVR2; FEVR; NDP; ND", "protein_names_uniprotkb": "Norrin; Norrie disease protein; X-linked exudative vitreoretinopathy 2 protein", "protein_names_refseq": "NDP, norrin cystine knot growth factor; Norrie disease (pseudoglioma); X-linked exudative vitreoretinopathy 2 protein; norrie disease protein; norrin precursor; norrin", "tax_id": 9606, "disease": "exudative vitreoretinopathy (Disease Ontology:DOID:0050535); Norrie disease (Disease Ontology:DOID:0060844); X-linked exudative vitreoretinopathy 2 (Disease Ontology:DOID:0111413); retinopathy of prematurity (Disease Ontology:DOID:13025)", "pathway": " (hsa:4693)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10452356;10484772;10544980;11337749;1303235;1303236;1303264;1307245;14635119;15609522;15776010;16163268;16970763;17128466;17296899;17325173;17334993;19413330;20340138;24186977;28192794;35051231;37089697;38146894;38517429;7627181;7662640;7795608;7993212;8069314;8252044;8268931;8281159;8298646;8589700;8741107;8807344;8946107;8990009;9143917;9143918;9382152;9407136", "class_list": "", "function": "Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction., [UniProtKB]; Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/beta-Catenin Pathway Activation., [RefSeq, PubMed]; Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree., [RefSeq, PubMed]; This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]., [RefSeq]; Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8K6;Q5JYH5", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0042803 protein homodimerization activity;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0009986 cell surface", "go_biological_process": "GO:0007399 nervous system development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007601 visual perception;GO:0045893 positive regulation of DNA-templated transcription;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q00604-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42680-1", "uniprot_id": [ { "id": "TEC_HUMAN", "url": "https://www.uniprot.org/uniprot/P42680", "type": "external" } ], "mass": 73581.0, "length": 631, "protein_name": "Tyrosine-protein kinase Tec", "gene_name": "TEC", "organism": "Human", "refseq_name": "tyrosine-protein kinase Tec", "refseq_ac": [ { "id": "NP_003206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003206", "type": "external" } ], "gene_names_uniprotkb": "TEC; PSCTK4", "gene_names_refseq": "PSCTK4; TEC", "protein_names_uniprotkb": "Tyrosine-protein kinase Tec; 2.7.10.2", "protein_names_refseq": "tyrosine-protein kinase Tec", "tax_id": 9606, "disease": "", "pathway": " (hsa:7006); (R-HSA-1433557); (R-HSA-2871809); (R-HSA-512988)", "pathway_count": 4, "publication_count": 138, "publication_id_list": "10358045;10377264;10397721;10477686;10477722;10518561;10523831;10523834;10679268;10860980;10884405;10949031;10982827;11015619;11030334;11237011;11328862;11395409;11395417;11494148;11520784;11707405;11809791;12062105;12192036;12573241;12660731;12824176;12878163;12975316;1371879;1375232;1381360;1396555;1400495;15143187;15492005;15526160;16129412;16483568;16737840;16873377;1702217;1721591;17255936;17344430;17344846;17502104;17662946;18296442;1833064;1833065;18692472;18697750;19369195;19690332;19807924;19883687;20230531;20304997;2065657;23481700;24714562;2555171;25880248;25892735;26154972;26375851;26811146;2681215;27382052;27536065;27920218;28631381;28832583;28935395;29242379;29557506;29704617;29964125;30429286;31085175;31092671;31844290;32350084;32357974;32387766;33717175;33912179;34357683;34637843;34932366;35051231;36010968;7506952;7509796;7513165;7518558;7523381;7526158;7536744;7651724;7680037;7934162;8007942;8084588;8483502;8611693;8629002;8630736;8631904;8636116;8647802;8647804;8695790;8774734;8799126;8947042;8950973;8990121;9030599;9038210;9045650;9111318;9162089;9256427;9299487;9341160;9355737;9422786;9446650;9473212;9652744;9685210;9753425;9766809;9799234;9872323", "class_list": "", "function": "High TEC expression is associated with the development of Mallory Denk Bodies in balloon cells in alcoholic hepatitis., [RefSeq, PubMed]; Non-receptor tyrosine kinase that contributes to signaling from many receptors and participates as a signal transducer in multiple downstream pathways, including regulation of the actin cytoskeleton. Plays a redundant role to ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. Required for TCR-dependent IL2 gene induction. Phosphorylates DOK1, one CD28-specific substrate, and contributes to CD28-signaling. Mediates signals that negatively regulate IL2RA expression induced by TCR cross-linking. Plays a redundant role to BTK in BCR-signaling for B-cell development and activation, especially by phosphorylating STAP1, a BCR-signaling protein. Required in mast cells for efficient cytokine production. Involved in both growth and differentiation mechanisms of myeloid cells through activation by the granulocyte colony-stimulating factor CSF3, a critical cytokine to promoting the growth, differentiation, and functional activation of myeloid cells. Participates in platelet signaling downstream of integrin activation. Cooperates with JAK2 through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. GRB10, a negative modifier of the FOS activation pathway, is another substrate of TEC. TEC is involved in G protein-coupled receptor- and integrin-mediated signalings in blood platelets. Plays a role in hepatocyte proliferation and liver regeneration and is involved in HGF-induced ERK signaling pathway. TEC also regulates FGF2 unconventional secretion (endoplasmic reticulum (ER)/Golgi-independent mechanism) under various physiological conditions through phosphorylation of FGF2 'Tyr-215'. May also be involved in the regulation of osteoclast differentiation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; TEC is yet another regulator of FGF2-mediated Human pluripotent stem cells pluripotency and differentiation., [RefSeq, PubMed]; TEC kinase stabilizes PLK4 to promote liver cancer metastasis., [RefSeq, PubMed]; The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; Using RNA interference, the identified compounds corroborate the role of Tec kinase in unconventional secretion of FGF2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKZ6;Q3MIS5", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0005543 phospholipid binding;GO:0008270 zinc ion binding;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0010543 regulation of platelet activation;GO:0006468 protein phosphorylation;GO:0007229 integrin-mediated signaling pathway;GO:0035556 intracellular signal transduction;GO:0050852 T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P42680-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A04-1", "uniprot_id": [ { "id": "TSACC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A04", "type": "external" } ], "mass": 13670.0, "length": 125, "protein_name": "TSSK6-activating co-chaperone protein", "gene_name": "TSACC", "organism": "Human", "refseq_name": "TSSK6-activating co-chaperone protein isoform a", "refseq_ac": [ { "id": "NP_001291746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291746", "type": "external" } ], "gene_names_uniprotkb": "TSACC; C1orf182", "gene_names_refseq": "C1orf182; SIP; SSTK-IP; TSACC", "protein_names_uniprotkb": "TSSK6-activating co-chaperone protein; SIP; SSTK-IP; SSTK-interacting protein", "protein_names_refseq": "SSTK-interacting protein (SSTK-IP); TSSK6 activating co-chaperone; TSSK6-activating co-chaperone protein isoform a; TSSK6-activating co-chaperone protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:128229)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;20829357;34357683", "class_list": "", "function": "Co-chaperone that facilitates HSP-mediated activation of TSSK6., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DVB9", "ec_number_list": [], "go_molecular_function": "GO:0051087 protein-folding chaperone binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96A04-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0M9-1", "uniprot_id": [ { "id": "RM27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0M9", "type": "external" } ], "mass": 16073.0, "length": 148, "protein_name": "Large ribosomal subunit protein bL27m", "gene_name": "MRPL27", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL27m", "refseq_ac": [ { "id": "NP_057588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057588", "type": "external" } ], "gene_names_uniprotkb": "MRPL27; HSPC250", "gene_names_refseq": "L27mt; MRPL27; bL27m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL27m; 39S ribosomal protein L27, mitochondrial; L27mt; MRP-L27", "protein_names_refseq": "39S ribosomal protein L27, mitochondrial; MRP-L27; large ribosomal subunit protein bL27m; mitochondrial large ribosomal subunit protein bL27m", "tax_id": 9606, "disease": "", "pathway": " (hsa:51264); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 57, "publication_id_list": "11237011;11279069;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;24715725;25233460;25278503;25838379;26811146;26992070;27029019;27846572;28514659;28832583;28892042;28904123;29242379;29493099;29557506;30379171;30429286;30484775;30524438;31217245;31844290;32157095;32387766;32502341;32938616;33141586;33243891;33298915;33456351;33592498;33717175;33878294;33912179;34171305;34561969;34932366;35177605;35580925;36241641;36302763;36596788;37141370;37938771;38665916", "class_list": "", "function": "MRPL27 contributes to unfavorable overall survival and disease-free survival from cholangiocarcinoma patients. Publication Status: Online-Only, [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RE14", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9P0M9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05932-1", "uniprot_id": [ { "id": "FOLC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05932", "type": "external" } ], "mass": 64609.0, "length": 587, "protein_name": "Folylpolyglutamate synthase, mitochondrial", "gene_name": "FPGS", "organism": "Human", "refseq_name": "folylpolyglutamate synthase, mitochondrial isoform b", "refseq_ac": [ { "id": "NP_001018088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018088", "type": "external" } ], "gene_names_uniprotkb": "FPGS", "gene_names_refseq": "FPGS", "protein_names_uniprotkb": "Folylpolyglutamate synthase, mitochondrial; 6.3.2.17; FPGS; Folylpoly-gamma-glutamate synthetase; Tetrahydrofolate synthase; Tetrahydrofolylpolyglutamate synthase", "protein_names_refseq": "folylpoly-gamma-glutamate synthetase; folylpolyglutamate synthase, mitochondrial isoform b; folylpolyglutamate synthase, mitochondrial; tetrahydrofolate synthase; tetrahydrofolylpolyglutamate synthase", "tax_id": 9606, "disease": "", "pathway": " (hsa:2356)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;11237011;1409616;16169100;16796460;17875718;18672898;22424782;23186163;23481700;25418920;25576301;26154972;26375851;26992070;27920218;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29508533;29632046;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32161166;32357974;32387766;32502341;32694622;32897882;32938616;32940699;32983136;33298915;33691108;33968037;34087483;34331561;34509645;35051231;35318648;37452621;7721888;8408018;8408019;8408020;8408021;8521387;8662720", "class_list": "", "function": "Association of altered folylpolyglutamate synthetase pre-mRNA splicing with methotrexate unresponsiveness in early rheumatoid arthritis., [RefSeq, PubMed]; Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Effects of single nucleotide polymorphisms of the folylpolyglutamate synthase gene on pemetrexed administration-induced nephropathy., [RefSeq, PubMed]; FPGS relapse-specific mutations in relapsed childhood acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Influence of FPGS, ABCC4, SLC29A1, and MTHFR genes on the pharmacogenomics of fluoropyrimidines in patients with gastrointestinal cancer from the Brazilian Amazon., [RefSeq, PubMed]; This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KPW4;B7Z2Z3;F5H0K6;Q5JU19;Q5JU22;Q6P2P6", "ec_number_list": [ { "id": "6.3.2.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.17", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004326 tetrahydrofolylpolyglutamate synthase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006536 glutamate metabolic process;GO:0008283 cell population proliferation;GO:0006730 one-carbon metabolic process;GO:0046655 folic acid metabolic process;GO:0006139 nucleobase-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q05932-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRR9-1", "uniprot_id": [ { "id": "RHG09_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRR9", "type": "external" } ], "mass": 83260.0, "length": 750, "protein_name": "Rho GTPase-activating protein 9", "gene_name": "ARHGAP9", "organism": "Human", "refseq_name": "rho GTPase-activating protein 9 isoform 3", "refseq_ac": [ { "id": "NP_001073625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073625", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP9", "gene_names_refseq": "10C; ARHGAP9; RGL1", "protein_names_uniprotkb": "Rho GTPase-activating protein 9; Rho-type GTPase-activating protein 9", "protein_names_refseq": "rho GTPase-activating protein 9 isoform 3; rho-type GTPase-activating protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:64333); (R-HSA-6798695); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 5, "publication_count": 361, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17339315;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18786931;18829452;18835169;18838382;18929667;19269969;19494238;19531498;19605563;19635168;19673492;19690332;19713215;19807924;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23650620;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24714562;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26728094;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27862975;27920218;27986909;28028151;28112683;28114311;28196833;28218747;28228285;28584191;28825699;28832583;28860633;28904123;29089502;29146911;29242379;29358323;29382922;29493099;29508533;29557506;29632711;29741879;29786170;29789417;30061681;30524438;30784271;30853411;31105010;31154438;31530632;31844290;31848261;31871319;31937595;31998317;32157095;32203420;32387766;32502341;32897882;32983136;33141586;33298915;33392160;33579308;33691108;33968037;34159626;34509645;35040754;35051231;35561310;35580925;35679685;36284347;37074911;37938771;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8692836;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "ARHGAP9 inhibits colorectal cancer cell proliferation, invasion and EMT via targeting PI3K/AKT/mTOR signaling pathway., [RefSeq, PubMed]; GATA binding protein 5 (GATA5) induces Rho GTPase activating protein 9 (ARHGAP9) to inhibit the malignant process of lung adenocarcinoma cells., [RefSeq, PubMed]; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has a substantial GAP activity toward CDC42 and RAC1 and less toward RHOA. Has a role in regulating adhesion of hematopoietic cells to the extracellular matrix. Binds phosphoinositides, and has the highest affinity for phosphatidylinositol 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate., [UniProtKB, PubMed]; SOX4-induced upregulation of ARHGAP9 promotes the progression of acute myeloid leukemia., [RefSeq, PubMed]; The role of ARHGAP9: clinical implication and potential function in acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 14, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DVI3;E9PDX9;Q8NAF3;Q8TCJ3;Q8WYR0;Q96EZ2;Q96S74", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 37.7, "record_id": "Q9BRR9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22607-1", "uniprot_id": [ { "id": "FGFR3_HUMAN", "url": "https://www.uniprot.org/uniprot/P22607", "type": "external" } ], "mass": 87710.0, "length": 806, "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "FGFR3", "organism": "Human", "refseq_name": "fibroblast growth factor receptor 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000133", "type": "external" } ], "gene_names_uniprotkb": "FGFR3; JTK4", "gene_names_refseq": "ACH; CD333; CEK2; FGFR3; HSFGFR3EX; JTK4", "protein_names_uniprotkb": "Fibroblast growth factor receptor 3; 2.7.10.1; FGFR-3", "protein_names_refseq": "FGFR-3; fibroblast growth factor receptor 3 isoform 1 precursor; fibroblast growth factor receptor 3-S; hydroxyaryl-protein kinase; tyrosine kinase JTK4", "tax_id": 9606, "disease": "autosomal dominant disease (Disease Ontology:DOID:0050736); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); tonsil squamous cell carcinoma (Disease Ontology:DOID:0050920); scoliosis (Disease Ontology:DOID:0060249); Muenke Syndrome (Disease Ontology:DOID:0060703); familial hyperinsulinemic hypoglycemia 7 (Disease Ontology:DOID:0070214); bone disease (Disease Ontology:DOID:0080001); hypochondroplasia (Disease Ontology:DOID:0080041); lacrimoauriculodentodigital syndrome 2 (Disease Ontology:DOID:0081371); SADDAN (Disease Ontology:DOID:0111158); camptodactyly-tall stature-scoliosis-hearing loss syndrome (Disease Ontology:DOID:0111160); Crouzon syndrome-acanthosis nigricans syndrome (Disease Ontology:DOID:0111161); epidermal nevus (Disease Ontology:DOID:0111162); urinary bladder cancer (Disease Ontology:DOID:11054); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); thanatophoric dysplasia (Disease Ontology:DOID:13481); breast cancer (Disease Ontology:DOID:1612); craniosynostosis (Disease Ontology:DOID:2340); transitional cell carcinoma (Disease Ontology:DOID:2671); cervix carcinoma (Disease Ontology:DOID:2893); high grade glioma (Disease Ontology:DOID:3070); acanthosis nigricans (Disease Ontology:DOID:3138); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); chondrosarcoma (Disease Ontology:DOID:3371); breast adenocarcinoma (Disease Ontology:DOID:3458); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); Merkel cell carcinoma (Disease Ontology:DOID:3965); bladder urothelial carcinoma (Disease Ontology:DOID:4006); cervical cancer (Disease Ontology:DOID:4362); achondroplasia (Disease Ontology:DOID:4480); testicular germ cell cancer (Disease Ontology:DOID:5557); seborrheic keratosis (Disease Ontology:DOID:6498); chronic myeloid leukemia (Disease Ontology:DOID:8552); tongue cancer (Disease Ontology:DOID:8649); colorectal cancer (Disease Ontology:DOID:9256); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:2261); (R-HSA-1839130); (R-HSA-2033515); (R-HSA-5655332); (R-HSA-8853334)", "pathway_count": 5, "publication_count": 215, "publication_id_list": "10.1101/2023.09.13.557529;10053006;10073901;10094188;10215410;10360392;10360393;10360402;10361991;10395236;10471491;10568829;10579907;10587515;10611230;10652257;10671061;10777366;10897055;10918587;11030304;11055896;11078763;11114733;11121055;11157491;11186939;11186940;11237011;11290605;11294897;11314002;11325814;11424131;11429702;11529856;11605053;11689702;11703096;11739186;11746040;11904459;11906172;12009017;12297284;12461689;12624096;12707965;12833394;14534538;14613973;14715624;14732692;14871245;15029211;15241680;15282208;15448205;15517832;15598814;15748888;15772091;15863030;15880580;16091734;16410555;16411219;16467200;16501574;16532037;16597617;1664411;16752380;16766665;16778799;16841094;16844695;16912704;17033969;17044022;17145761;17311277;17344846;17384684;17505008;17509076;17561467;17623664;17895900;17935505;18000903;18076102;18266238;18337450;18373495;18381441;1847508;18552176;18642369;18669648;18757403;18757432;19066716;19088846;19103595;19147536;19215249;19286672;19331127;19381019;19449430;19749790;19809159;19855393;19901323;19946327;20094046;20179196;20439987;20624921;20643727;20709759;21160078;21264819;21324899;21367659;21666749;21711248;22038757;2247464;22837387;23175443;23298836;23558953;23726269;23991606;24588013;24850843;24864036;25246530;25271085;25294908;25467007;25535896;26134678;26244699;26425723;28228285;28483234;29242379;29485866;29540697;31316618;31611695;31844290;31848261;32350084;32387766;33592498;35003900;35051231;35154160;35251023;35580925;38244702;38503521;38677755;39161208;4697848;7493034;7495869;7649548;7670477;7758520;7773297;7847369;7913883;7923141;8078586;8589686;8589699;8599370;8599935;8640234;8663044;8673103;8723106;8754806;8841188;8845844;8858131;9042914;9107244;9154000;9207791;9279753;9279764;9300656;9438390;9450868;9452043;9525367;9538690;9580776;9585583;9600744;9672519;9677066;9790257;9842995;9843049;9843059;9857065;9865713;9950359", "class_list": "glycogene", "function": "FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies. Review article, [RefSeq, PubMed]; Muscle-Invasive Bladder Cancer With Hydronephrosis Exhibits a High Frequency of Mutations in Fibroblast Growth Factor Receptor 3 Gene., [RefSeq, PubMed]; This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]., [RefSeq]; Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; [Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with FGFR3 gene mutations]., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 3, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 2590, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 36, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "D3DVP9;D3DVQ0;Q14308;Q16294;Q16608;Q59FL9", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0005007 fibroblast growth factor receptor activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0017134 fibroblast growth factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0000165 MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "P22607-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100011001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XX4-1", "uniprot_id": [ { "id": "FRAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XX4", "type": "external" } ], "mass": 443214.0, "length": 4008, "protein_name": "Extracellular matrix organizing protein FRAS1", "gene_name": "FRAS1", "organism": "Human", "refseq_name": "extracellular matrix organizing protein FRAS1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001159605", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159605", "type": "external" } ], "gene_names_uniprotkb": "FRAS1; KIAA1500", "gene_names_refseq": "FRAS1; FRASRS1", "protein_names_uniprotkb": "Extracellular matrix organizing protein FRAS1; Fraser syndrome 1 protein", "protein_names_refseq": "Fraser syndrome 1; extracellular matrix organizing protein FRAS1 isoform 2 precursor; extracellular matrix organizing protein FRAS1; extracellular matrix protein FRAS1; fraser syndrome 1 protein", "tax_id": 9606, "disease": "Fraser syndrome (Disease Ontology:DOID:0090001); Fraser syndrome 1 (Disease Ontology:DOID:0111405); clubfoot (Disease Ontology:DOID:11836)", "pathway": " (hsa:80144)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;12766769;17654118;19690332;23090970;23473829;23584533;24190977;24715725;25576301;25645385;25892735;28832583;29242379;29351928;29557506;29789417;30459171;31844290;32157095;32161166;32265295;32387766;32643034;32897882;33392160;33537174;33592498;33912179;33956343;33968037;33981976;34171305;34357683;34932366;35051231;35154160;35251023;35561310;35580925;36241641;37074911;37340703;37938771;38838015;39367995", "class_list": "", "function": "A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer., [RefSeq, PubMed]; DCAF13 promotes ovarian cancer progression by activating FRAS1-mediated FAK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; In this review, recent studies support direct interactions between Fras1 and Frem proteins and shed new light on their role in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Review article, [RefSeq, PubMed]; Involved in extracellular matrix organization (By similarity). Required for the regulation of epidermal-basement membrane adhesion responsible for proper organogenesis during embryonic development (By similarity). Involved in brain organization and function (By similarity)., [UniProtKB, UniProtKB]; Involved in extracellular matrix organization. Required for the regulation of epidermal-basement membrane adhesion responsible for proper organogenesis during embryonic development. Involved in brain organization and function., [UniProtKB, UniProtKB, UniProtKB]; Locus FS1 at chromosome 4q21 is associated with Fraser syndrome. Mutation analysis identified five frameshift mutations in FRAS1, which encodes one member of a family of novel proteins related to an extracellular matrix (ECM) protein found in sea urchin., [RefSeq, PubMed]; Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families., [RefSeq, PubMed]; This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 12, "predicted_n_glycosites": 8, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 86, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 30, "disease_count": 3, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "A2RRR8;Q86UZ4;Q8N3U9;Q8NAU7;Q96JW7;Q9H6N9;Q9P228", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0005604 basement membrane;GO:0005581 collagen trimer", "go_biological_process": "GO:0048731 system development;GO:0007160 cell-matrix adhesion;GO:0007154 cell communication;GO:0048513 animal organ development;GO:0010669 epithelial structure maintenance", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q86XX4-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEA4-1", "uniprot_id": [ { "id": "FBX36_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEA4", "type": "external" } ], "mass": 22105.0, "length": 188, "protein_name": "F-box only protein 36", "gene_name": "FBXO36", "organism": "Human", "refseq_name": "F-box only protein 36", "refseq_ac": [ { "id": "NP_777559", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777559", "type": "external" } ], "gene_names_uniprotkb": "FBXO36; FBX36", "gene_names_refseq": "FBXO36; Fbx36", "protein_names_uniprotkb": "F-box only protein 36", "protein_names_refseq": "F-box only protein 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:130888)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;26992070;28218747;28228285;29242379;29437277;29557506;31844290;31848261;32387766;32488085;33141586;33392160;33936100;33968037;34211107;35051231", "class_list": "", "function": "Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVQ6;Q53TE6;Q8WWD4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8NEA4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29597-1", "uniprot_id": [ { "id": "TYK2_HUMAN", "url": "https://www.uniprot.org/uniprot/P29597", "type": "external" } ], "mass": 133650.0, "length": 1187, "protein_name": "Non-receptor tyrosine-protein kinase TYK2", "gene_name": "TYK2", "organism": "Human", "refseq_name": "non-receptor tyrosine-protein kinase TYK2 isoform 2", "refseq_ac": [ { "id": "NP_003322", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003322", "type": "external" } ], "gene_names_uniprotkb": "TYK2", "gene_names_refseq": "IMD35; JTK1; TYK2", "protein_names_uniprotkb": "Non-receptor tyrosine-protein kinase TYK2; 2.7.10.2", "protein_names_refseq": "non-receptor tyrosine-protein kinase TYK2 isoform 2; non-receptor tyrosine-protein kinase TYK2", "tax_id": 9606, "disease": "immunodeficiency 35 (Disease Ontology:DOID:0111989); disease of cellular proliferation (Disease Ontology:DOID:14566); cancer (Disease Ontology:DOID:162); hematologic cancer (Disease Ontology:DOID:2531); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7297); (R-HSA-1059683); (R-HSA-110056); (R-HSA-112411); (R-HSA-449836); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-6788467); (R-HSA-8854691); (R-HSA-8984722); (R-HSA-9020591); (R-HSA-9020933); (R-HSA-9020956); (R-HSA-909733); (R-HSA-912694); (R-HSA-9674555); (R-HSA-9679191); (R-HSA-9705462); (R-HSA-9705671); (R-HSA-9725370); (R-HSA-9833109); (R-HSA-9958825)", "pathway_count": 22, "publication_count": 671, "publication_id_list": 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"class_list": "", "function": "Associations of genetic variants within TYK2 with pulmonary tuberculosis among Chinese population., [RefSeq, PubMed]; Community analysis of large-scale molecular dynamics simulations elucidated dynamics-driven allostery in tyrosine kinase 2., [RefSeq, PubMed]; Direct and biologically significant interactions of human herpesvirus 8 interferon regulatory factor 1 with STAT3 and Janus kinase TYK2. Publication Status: Online-Only, [RefSeq, PubMed]; Non-membrane spanning protein tyrosine kinase involved in numerous cytokines and interferons signaling, which regulates cell growth, development, cell migration, innate and adaptive immunity (PubMed:10542297, PubMed:10995743, PubMed:7657660, PubMed:7813427, PubMed:8232552). Plays both structural and catalytic roles in numerous interleukins and interferons (IFN-alpha/beta) signaling (PubMed:10542297). Associates with heterodimeric cytokine receptor complexes and activates STAT family members including STAT1, STAT3, STAT4 or STAT6 (PubMed:10542297, PubMed:7638186). The heterodimeric cytokine receptor complexes are composed of (1) a TYK2-associated receptor chain (IFNAR1, IL12RB1, IL10RB or IL13RA1), and (2) a second receptor chain associated either with JAK1 or JAK2 (PubMed:10542297, PubMed:25762719, PubMed:7526154, PubMed:7813427). In response to cytokine-binding to receptors, phosphorylates and activates receptors (IFNAR1, IL12RB1, IL10RB or IL13RA1), creating docking sites for STAT members (PubMed:7526154, PubMed:7657660). In turn, recruited STATs are phosphorylated by TYK2 (or JAK1/JAK2 on the second receptor chain), form homo- and heterodimers, translocate to the nucleus, and regulate cytokine/growth factor responsive genes (PubMed:10542297, PubMed:25762719, PubMed:7657660). Negatively regulates STAT3 activity by promototing phosphorylation at a specific tyrosine that differs from the site used for signaling (PubMed:29162862). Involved in the oncostatin-M-mediated signaling pathway through both type I OSM receptor complex (heterodimers composed of LIFR and IL6ST) and type II OSM receptor complex (heterodimers composed of OSMR and IL6ST) (PubMed:9188471)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TYK2, IFITM3, IFNAR2 and OAS3 single-nucleotide polymorphisms among severe COVID-19 ICU patients in Morocco., [RefSeq, PubMed]; This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6QB10;Q96CH0", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" } ], "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0005131 growth hormone receptor binding;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031234 extrinsic component of cytoplasmic side of plasma membrane", "go_biological_process": "GO:0046425 regulation of receptor signaling pathway via JAK-STAT;GO:0038043 interleukin-5-mediated signaling pathway;GO:0006468 protein phosphorylation;GO:0008283 cell population proliferation;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 67.4, "record_id": "P29597-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZV73-1", "uniprot_id": [ { "id": "FGD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZV73", "type": "external" } ], "mass": 160816.0, "length": 1430, "protein_name": "FYVE, RhoGEF and PH domain-containing protein 6", "gene_name": "FGD6", "organism": "Human", "refseq_name": "FYVE, RhoGEF and PH domain-containing protein 6", "refseq_ac": [ { "id": "NP_060821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060821", "type": "external" } ], "gene_names_uniprotkb": "FGD6; KIAA1362; ZFYVE24", "gene_names_refseq": "FGD6; ZFYVE24", "protein_names_uniprotkb": "FYVE, RhoGEF and PH domain-containing protein 6; Zinc finger FYVE domain-containing protein 24", "protein_names_refseq": "FYVE, RhoGEF and PH domain-containing protein 6; zinc finger FYVE domain-containing protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:55785)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;18669648;19664994;19664995;20068231;21406692;23186163;23481700;24366607;25576301;25645385;25880248;25892735;27089177;27543614;27846572;27862975;28411811;28832583;28904123;29242379;29557506;29632046;30315122;30379171;30429286;31154438;31848261;32157095;32350084;32357974;32938616;32983136;33141586;33298915;33717175;33912179;33968037;33981976;34019948;34211107;35051231;35561310;35580925;36284347;37217939", "class_list": "", "function": "Data suggest that oxidized phospholipids and FGD6-Arg329 might act synergistically to increase susceptibility to PCV, [RefSeq, PubMed]; May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZR53;Q7Z2Z7;Q96D44;Q9NUR8;Q9P2I5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005856 cytoskeleton;GO:0030027 lamellipodium;GO:0001726 ruffle", "go_biological_process": "GO:0043087 regulation of GTPase activity;GO:0046847 filopodium assembly;GO:0030036 actin cytoskeleton organization;GO:0007010 cytoskeleton organization;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q6ZV73-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95954-1", "uniprot_id": [ { "id": "FTCD_HUMAN", "url": "https://www.uniprot.org/uniprot/O95954", "type": "external" } ], "mass": 58927.0, "length": 541, "protein_name": "Formimidoyltransferase-cyclodeaminase", "gene_name": "FTCD", "organism": "Human", "refseq_name": "formimidoyltransferase-cyclodeaminase isoform C", "refseq_ac": [ { "id": "NP_001307341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307341", "type": "external" } ], "gene_names_uniprotkb": "FTCD", "gene_names_refseq": "FTCD; LCHC1", "protein_names_uniprotkb": "Formimidoyltransferase-cyclodeaminase; FTCD; Formiminotetrahydrofolate cyclodeaminase; Formiminotransferase-cyclodeaminase; Glutamate formiminotransferase; Glutamate formyltransferase; LCHC1", "protein_names_refseq": "formimidoyltransferase-cyclodeaminase isoform C; formiminotransferase-cyclodeaminase", "tax_id": 9606, "disease": "Frasier syndrome (Disease Ontology:DOID:0050438); ovarian serous carcinoma (Disease Ontology:DOID:0050933); nephrotic syndrome type 4 (Disease Ontology:DOID:0080383); glutamate formiminotransferase deficiency (Disease Ontology:DOID:0111679); Alzheimer's disease (Disease Ontology:DOID:10652); lung cancer (Disease Ontology:DOID:1324); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); malignant mesothelioma (Disease Ontology:DOID:1790); nephroblastoma (Disease Ontology:DOID:2154); Denys-Drash syndrome (Disease Ontology:DOID:3764); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); renal Wilms' tumor (Disease Ontology:DOID:5176); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:10841); (R-HSA-70921)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10029623;10773664;11237011;11566133;12072962;12815595;1425659;14759258;15221005;15806399;16534631;18154359;19304569;20097752;24275569;26001783;29557506;29927301;30784016;30893314;33555040;35051231;35580925;7901203;7943261", "class_list": "", "function": "Binds and promotes bundling of vimentin filaments originating from the Golgi., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Disease-causing mutations have been identified in the FTCD gene in three patients with the putative autosomal recessive disorder glutamate formiminotransferase deficiency. Erratum:[Hum Mutat. 2003 Nov;22(5):416], [RefSeq, PubMed]; Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]; P97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly., [RefSeq, PubMed]; The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in Early Detection of Hepatocellular Carcinoma (HCC) and in Differentiation Between HCC and Metastatic Adenocarcinoma to the Liver., [RefSeq, PubMed]; The minor allele (A) of rs61735836 (p.Val101Met) in exon 3 of FTCD was associated with increased urinary Inorganic arsenics % (P = 8x10-13), increased mono-methylated arsenic % (P = 2x10-16) and decreased di-methylated arsenic % (P = 6x10-23). Erratum:[PLoS Genet. 2019 May 20;15(5):e1008172. doi: 10.1371/journal.pgen.1008172. PMID: 31107898] Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]., [RefSeq]; The rs914246 variant, but not the rs914245 variant, of the FTCD gene modulated accuracy in the task for younger, but not older, people under high working memory, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EGD0;Q86V03;Q9HCT4;Q9HCT5;Q9HCT6;Q9UHJ2", "ec_number_list": [ { "id": "2.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.2.5", "type": "external" }, { "id": "4.3.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.3.1.4", "type": "external" } ], "go_molecular_function": "GO:0008017 microtubule binding;GO:0005542 folic acid binding;GO:0030409 glutamate formimidoyltransferase activity;GO:0030412 formimidoyltetrahydrofolate cyclodeaminase activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0007010 cytoskeleton organization;GO:0019556 L-histidine catabolic process to glutamate and formamide;GO:0019557 L-histidine catabolic process to glutamate and formate;GO:0006760 folic acid-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "O95954-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CP2-1", "uniprot_id": [ { "id": "FWCH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CP2", "type": "external" } ], "mass": 14564.0, "length": 140, "protein_name": "FLYWCH family member 2", "gene_name": "FLYWCH2", "organism": "Human", "refseq_name": "FLYWCH family member 2", "refseq_ac": [ { "id": "NP_001135971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135971", "type": "external" } ], "gene_names_uniprotkb": "FLYWCH2", "gene_names_refseq": "FLYWCH2", "protein_names_uniprotkb": "FLYWCH family member 2", "protein_names_refseq": "FLYWCH family member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:114984)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;18669648;19651622;20068231;23186163;23301498;25576301;28832583;28904123;29242379;29557506;30779550;31373491;31848261;32157095;32357974;32938616;33214551;33592498;34019948;34087483;35051231;36010968;40596516", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96CP2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N539-1", "uniprot_id": [ { "id": "FBCD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N539", "type": "external" } ], "mass": 50744.0, "length": 461, "protein_name": "Fibrinogen C domain-containing protein 1", "gene_name": "FIBCD1", "organism": "Human", "refseq_name": "fibrinogen C domain-containing protein 1", "refseq_ac": [ { "id": "NP_001138578", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138578", "type": "external" } ], "gene_names_uniprotkb": "FIBCD1; PRO1346", "gene_names_refseq": "FIBCD1", "protein_names_uniprotkb": "Fibrinogen C domain-containing protein 1", "protein_names_refseq": "fibrinogen C domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84929)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;12975309;14702039;15164053;15489334;19710473;19892701;20237496;24293368;29220632;29659669;30279687;32157095;32296183;32387766;32938616;33592498;35051231;35501350;35916241;36215666;36888604;38072065", "class_list": "", "function": "Acetyl group-binding receptor which shows a high-affinity and calcium-dependent binding to acetylated structures such as chitin, some N-acetylated carbohydrates, and amino acids, but not to their non-acetylated counterparts. Can facilitate the endocytosis of acetylated components., [UniProtKB, PubMed, PubMed]; Crystal structures of human immune protein FIBCD1 suggest an extended binding site compatible with recognition of pathogen-associated carbohydrate motifs., [RefSeq, PubMed]; FIBCD1 is a conserved type II transmembrane endocytic receptor that binds chitin and is located primarily in the intestinal brush border (Schlosser et al., 2009 [PubMed 19710473]).[supplied by OMIM, Apr 2010]., [RefSeq]; FIBCD1 is a high-affinity receptor for chitin and chitin fragments, and may play an important role in controlling the exposure of intestine to chitin and chitin fragments, [RefSeq, PubMed]; FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The high affinity ligand N-acetylmannosamine (ManNAc) binds FIBCD1 in the S1 site, predominantly via the acetyl group with the oxygen and acetamide nitrogen hydrogen-bonded to the protein and the methyl group inserted into a hydrophobic pocket., [RefSeq, PubMed]; The myokine Fibcd1 is an endogenous determinant of myofiber size and mitigates cancer-induced myofiber atrophy. Publication Status: Online-Only, [RefSeq, PubMed]; The recognition unit of FIBCD1 organizes into a noncovalently linked tetrameric structure and uses a hydrophobic funnel (S1) for acetyl group recognition., [RefSeq, PubMed]; The role of FIBCD1 in response to Aspergillus fumigatus in lung epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A3KFK0;Q6UXK6;Q96SJ7", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008061 chitin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane;GO:0031012 extracellular matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8N539-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99501-1", "uniprot_id": [ { "id": "GA2L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99501", "type": "external" } ], "mass": 72717.0, "length": 681, "protein_name": "GAS2-like protein 1", "gene_name": "GAS2L1", "organism": "Human", "refseq_name": "GAS2-like protein 1 isoform c", "refseq_ac": [ { "id": "NP_001265659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265659", "type": "external" } ], "gene_names_uniprotkb": "GAS2L1; GAR22", "gene_names_refseq": "GAR22; GAS2L1", "protein_names_uniprotkb": "GAS2-like protein 1; GAS2-related protein on chromosome 22; Growth arrest-specific protein 2-like 1", "protein_names_refseq": "GAS2-like protein 1 isoform c; GAS2-like protein 1; GAS2-related protein on chromosome 22; epididymis secretory sperm binding protein; growth arrest-specific protein 2-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10634)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;12584248;17081983;18088087;18220336;18477386;18669648;19375645;19690332;20068231;20537721;22223895;23186163;24706950;28017616;30429286;32289147;32938616;33968037;35051231;37217939;8975699", "class_list": "", "function": "GAS2L1 and GAS2L2 are differentially involved in mediating the crosstalk between F-actin and microtubules., [RefSeq, PubMed]; Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers (PubMed:24706950)., [UniProtKB, PubMed, PubMed]; Nek2-mediated GAS2L1 phosphorylation and centrosome-linker disassembly induce centrosome disjunction., [RefSeq, PubMed]; T3-induced genes identified basic transcription element binding protein 1/Kruppel-like factor 9 (BTEB1/KLF9) and GAR22 as TR target genes, [RefSeq, PubMed]; The beta isoforms of hGAR17 and hGAR22 appear to be able to crosslink microtubules and microfilaments, [RefSeq, PubMed]; There was no significant difference in the frequency six marker haplotype in the GAS2L1 gene between the cases of schizophreina and controls. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. This protein localizes to the proximal end of mature centrioles and links centrosomes to both microtubules and actin. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, May 2018]., [RefSeq]; This work reveals a GAS2L1-mediated centriole-tethering mechanism of microtubules and actin, which provide the forces required for centrosome dynamics and separation., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B5MCR7;Q53EN7;Q92640;Q9BUY9", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0051015 actin filament binding;GO:0008093 cytoskeletal anchor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0001725 stress fiber;GO:0005856 cytoskeleton", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0007026 negative regulation of microtubule depolymerization;GO:0051764 actin crosslink formation;GO:0009267 cellular response to starvation;GO:0001578 microtubule bundle formation", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q99501-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92913-1", "uniprot_id": [ { "id": "FGF13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92913", "type": "external" } ], "mass": 27564.0, "length": 245, "protein_name": "Fibroblast growth factor 13", "gene_name": "FGF13", "organism": "Human", "refseq_name": "fibroblast growth factor 13 isoform 4", "refseq_ac": [ { "id": "NP_001132970", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132970", "type": "external" } ], "gene_names_uniprotkb": "FGF13; FHF2", "gene_names_refseq": "DEE90; FGF-13; FGF13; FGF2; FHF-2; FHF2; LINC00889; XLID110", "protein_names_uniprotkb": "Fibroblast growth factor 13; FGF-13; FHF-2; Fibroblast growth factor homologous factor 2", "protein_names_refseq": "fibroblast growth factor 13 isoform 4; fibroblast growth factor homologous factor 2", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); developmental and epileptic encephalopathy 90 (Disease Ontology:DOID:0070381); developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); intellectual disability (Disease Ontology:DOID:1059); intellectual developmental disorder, X-linked 110 (MONDO:MONDO:0859086)", "pathway": " (hsa:2258); (R-HSA-5576892)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10071193;10644718;11237011;11290418;11378392;1309946;14500339;15000524;15282281;18184654;19406745;21127204;21566136;21817159;22054663;22514276;23186163;23804213;29557506;31848261;32157095;33245860;34871784;35580925;36696443;36988403;37536293;37603967;38733310;8107964;8790420;9232594", "class_list": "glycogene", "function": "A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family., [RefSeq, PubMed]; FGF13 enhances the function of TRPV1 by stabilizing microtubules and regulates acute and chronic itch., [RefSeq, PubMed]; FGF13A interacts with NPM1 and UBF and inhibits the invasion of bladder cancer cells., [RefSeq, PubMed]; Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules (By similarity). Through its action on microtubules, may participate in the refinement of axons by negatively regulating axonal and leading processes branching (By similarity). Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus (By similarity). Regulates voltage-gated sodium channel transport and function (PubMed:15282281, PubMed:33245860, PubMed:36696443). May also play a role in MAPK signaling (By similarity). Required for the development of axonal initial segment-targeting inhibitory GABAergic synapses made by chandelier neurons (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; The inhibitory role of microRNA-141-3p in human cutaneous melanoma growth and metastasis through the fibroblast growth factor 13-mediated mitogen-activated protein kinase axis., [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 196, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AK18;B7Z4M7;B7Z8N0;D3DWH4;O95830;Q9NZH9;Q9NZI0", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0017080 sodium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0008083 growth factor activity;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0046785 microtubule polymerization;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0007399 nervous system development;GO:0007612 learning", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q92913-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZ56-1", "uniprot_id": [ { "id": "FMN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZ56", "type": "external" } ], "mass": 180106.0, "length": 1722, "protein_name": "Formin-2", "gene_name": "FMN2", "organism": "Human", "refseq_name": "formin-2 isoform 1", "refseq_ac": [ { "id": "NP_001292353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001292353", "type": "external" } ], "gene_names_uniprotkb": "FMN2", "gene_names_refseq": "FMN2", "protein_names_uniprotkb": "Formin-2", "protein_names_refseq": "formin-2 isoform 1", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 47 (Disease Ontology:DOID:0081211)", "pathway": " (hsa:56776)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10781961;11237011;15289902;15866570;17525332;18452278;19336575;19664994;20082305;21705804;21730168;22299025;22330775;23375502;24715725;25480035;25576301;26287480;26992070;29557506;30510376;32387766;33592498;33633747;33968037;33981976;35051231;35227295;35494241;36995659;37217939;37452271", "class_list": "", "function": "Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization (PubMed:21730168, PubMed:22330775). Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2 (PubMed:21730168, PubMed:22330775). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis (By similarity). Plays a role in responses to DNA damage, cellular stress and hypoxia by protecting CDKN1A against degradation, and thereby plays a role in stress-induced cell cycle arrest (PubMed:23375502). Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480). Protects cells against apoptosis by protecting CDKN1A against degradation (PubMed:23375502)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization. Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport. Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis. Plays a role in responses to DNA damage, cellular stress and hypoxia by protecting CDKN1A against degradation, and thereby plays a role in stress-induced cell cycle arrest. Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage. Protects cells against apoptosis by protecting CDKN1A against degradation., [UniProtKB, UniProtKB]; Exosomal Circ_FMN2 Derived from the Serum of Colorectal Cancer Patients Promotes Cancer Progression by miR-338-3p/MSI1 Axis. Erratum:[Appl Biochem Biotechnol. 2023 Sep 27;:. PMID: 37755641], [RefSeq, PubMed]; FMN2 promoter hypermethylation may be an important early event in colorectal cancer, most likely playing a critical role in cancer initiation, and can serve as an ideal diagnostic biomarker in elderly patients with early-stage colon cancer., [RefSeq, PubMed]; FMN2 was characterized at human chromosome 1q43., [RefSeq, PubMed]; Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency. Publication Status: Online-Only, [RefSeq, PubMed]; It is likely that FMN2 has the same function as Fmn2 in the mouse, i.e., maintenance of the meiotic spindle. Identification of patients with meiosis I arrest is necessary to determine whether FMN2 mutations are a cause of unexplained infertility., [RefSeq, PubMed]; Mechanism of tumor-derived extracellular vesicles in prostatic cancer progression through the circFMN2/KLF2/RNF128 axis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0QZA7;B4DP05;Q59GF6;Q5VU37;Q9NZ55", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005783 endoplasmic reticulum;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0015031 protein transport;GO:0016477 cell migration;GO:0035556 intracellular signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9NZ56-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEE6-1", "uniprot_id": [ { "id": "FXL13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEE6", "type": "external" } ], "mass": 83924.0, "length": 735, "protein_name": "F-box and leucine-rich repeat protein 13", "gene_name": "FBXL13", "organism": "Human", "refseq_name": "F-box and leucine-rich repeat protein 13 isoform 2", "refseq_ac": [ { "id": "NP_001104508", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104508", "type": "external" } ], "gene_names_uniprotkb": "FBXL13; DRC6; FBL13", "gene_names_refseq": "CFAP169; DRC6; FBXL13; Fbl13", "protein_names_uniprotkb": "F-box and leucine-rich repeat protein 13; Dynein regulatory complex subunit 6; F-box/LRR-repeat protein 13", "protein_names_refseq": "F-box and leucine-rich repeat protein 13 isoform 2; F-box/LRR-repeat protein 13; cilia and flagella associated protein 169; dynein regulatory complex subunit 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:222235); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15820312;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;29153394;29348145;30610225;32005965;32284348;33444648;33981976;35051231;35251023;35254053;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Specifically targets CEP192 isoform 3 for ubiquitin-mediated proteolysis and thereby acts as a regulator of microtubule nucleation activity (PubMed:29348145)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C9J565;C9J566;Q6UVW7;Q6UVW8;Q75MN5;Q86UJ5;Q8N7Y4;Q8TCL2;Q8WUF9;Q8WUG0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex;GO:0005930 axoneme", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:0030317 flagellated sperm motility;GO:0003341 cilium movement;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q8NEE6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35228-1", "uniprot_id": [ { "id": "NOS2_HUMAN", "url": "https://www.uniprot.org/uniprot/P35228", "type": "external" } ], "mass": 131117.0, "length": 1153, "protein_name": "Nitric oxide synthase, inducible", "gene_name": "NOS2", "organism": "Human", "refseq_name": "nitric oxide synthase, inducible", "refseq_ac": [ { "id": "NP_000616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000616", "type": "external" } ], "gene_names_uniprotkb": "NOS2; NOS2A", "gene_names_refseq": "HEP-NOS; INOS; NOS2A; NOS2; NOS", "protein_names_uniprotkb": "Nitric oxide synthase, inducible; 1.14.13.39; HEP-NOS; Hepatocyte NOS; Inducible NO synthase; Inducible NOS; NOS type II; Peptidyl-cysteine S-nitrosylase NOS2; iNOS", "protein_names_refseq": "NOS, type II; hepatocyte NOS; inducible NO synthase; inducible NOS; nitric oxide synthase 2, inducible; nitric oxide synthase 2A (inducible, hepatocytes); nitric oxide synthase, inducible; nitric oxide synthase, macrophage; peptidyl-cysteine S-nitrosylase NOS2", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); inflammatory bowel disease (Disease Ontology:DOID:0050589); obstructive sleep apnea (Disease Ontology:DOID:0050848); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); respiratory allergy (Disease Ontology:DOID:0060496); mucositis (Disease Ontology:DOID:0080178); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); asthma, nasal polyps, and aspirin intolerance (Disease Ontology:DOID:0111579); sleeping sickness (Disease Ontology:DOID:10112); pleurisy (Disease Ontology:DOID:10247); asbestosis (Disease Ontology:DOID:10320); Alzheimer's disease (Disease Ontology:DOID:10652); renal hypertension (Disease Ontology:DOID:1073); otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); gastroschisis (Disease Ontology:DOID:11044); meconium aspiration syndrome (Disease Ontology:DOID:11049); pneumocystosis (Disease Ontology:DOID:11339); pulmonary edema (Disease Ontology:DOID:11396); diabetic angiopathy (Disease Ontology:DOID:11713); allergic disease (Disease Ontology:DOID:1205); Lewy body dementia (Disease Ontology:DOID:12217); primary biliary cholangitis (Disease Ontology:DOID:12236); malaria (Disease Ontology:DOID:12365); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); dilated cardiomyopathy (Disease Ontology:DOID:12930); retinopathy of prematurity (Disease Ontology:DOID:13025); dementia (Disease Ontology:DOID:1307); lung cancer (Disease Ontology:DOID:1324); pulmonary sarcoidosis (Disease Ontology:DOID:13406); hepatic encephalopathy (Disease Ontology:DOID:13413); interstitial cystitis (Disease Ontology:DOID:13949); anterior uveitis (Disease Ontology:DOID:1407); toxic shock syndrome (Disease Ontology:DOID:14115); hypothyroidism (Disease Ontology:DOID:1459); cystic fibrosis (Disease Ontology:DOID:1485); pancreatic cancer (Disease Ontology:DOID:1793); epilepsy (Disease Ontology:DOID:1826); impotence (Disease Ontology:DOID:1875); hepatitis (Disease Ontology:DOID:2237); colon adenocarcinoma (Disease Ontology:DOID:234); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); uremia (Disease Ontology:DOID:4676); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); cholangiocarcinoma (Disease Ontology:DOID:4947); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); paraplegia (Disease Ontology:DOID:607); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); abdominal aortic aneurysm (Disease Ontology:DOID:7693); extrinsic allergic alveolitis (Disease Ontology:DOID:841); lung disease (Disease Ontology:DOID:850); alcoholic gastritis (Disease Ontology:DOID:8680); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); allergic asthma (Disease Ontology:DOID:9415); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); malaria, susceptibility to (MONDO:MONDO:0021024)", "pathway": " (hsa:4843); (R-HSA-1222556); (R-HSA-392154); (R-HSA-6785807); (R-HSA-9033241); (R-HSA-9636249)", "pathway_count": 6, "publication_count": 206, "publication_id_list": "10022913;10023775;10029572;10074942;10219247;10369418;10409685;10510379;10562279;10586089;10673331;10867011;11058569;11084045;11101887;11104795;11120780;11237011;11237855;11278437;11278729;11356008;11404481;11463377;11546814;11781871;11931631;11960372;11970843;12080081;12223527;12242343;12433515;12456682;12559034;12578380;12600988;12717447;12832402;12885776;14634100;14712222;15116091;15261459;15545321;15584925;15785204;15805299;15858711;15869882;15944288;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16451196;16510571;16540365;16543247;16606674;16854980;16959974;17007944;17427945;17458857;17572495;17662945;17726030;17804409;18243101;18353781;18359941;18447642;18644974;18712838;19089323;19124156;19185846;19197237;19208625;19397496;19584060;19632994;19688109;19737939;19875457;20134026;20178365;20493732;21102457;21124855;21199876;21252155;21554508;21612325;21689689;21730069;21937440;21976670;21980954;21994466;22002062;22046235;22057399;22205702;22371489;22383755;22693070;22747494;22851691;23086340;23124025;23172665;23455323;23555662;23963456;23967200;24097101;24235149;24430113;24743777;24865970;25016021;25180171;25234944;25417112;25418920;25538232;25854684;26086376;26138649;26220973;26344566;27597759;28071726;2825632;2848506;28521612;28611990;28765278;28787099;29557506;30379171;30779550;31154438;31844290;32938616;33392160;34185709;35051231;35772285;36010968;38187473;38282619;38583755;38794644;39136772;7504305;7510216;7512451;7522054;7528017;7528267;7529288;7531687;7532248;7544004;7558036;7682706;7692964;7719337;7790377;7795521;7796300;7898939;7907877;7980580;8085155;8537108;8602263;8621622;8663118;8668165;8797861;8816495;8824437;8858165;8991089;9013879;9090381;9090382;9090383;9160867;9539740;9651359;9653144;9668159;9721329;9723655;9736340;9822675;9837948;9874564", "class_list": "", "function": "Analyzing the FMN-heme interdomain docking interactions in neuronal and inducible NOS isoforms by pulsed EPR experiments and conformational distribution modeling., [RefSeq, PubMed]; High iNOS and IL-1beta immunoreactivity are features of colitis-associated colorectal cancer tumors, but fail to predict 5-year survival. Publication Status: Online-Only, [RefSeq, PubMed]; INOS ablation promotes corneal wound healing via activation of Akt signaling., [RefSeq, PubMed]; Impact of Inducible Nitric Oxide Synthase Activation on Endothelial Behavior under Magnesium Deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Lysosomal trafficking regulator restricts intracellular growth of Coxiella burnetii by inhibiting the expansion of Coxiella-containing vacuole and upregulating nos2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]., [RefSeq]; Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body (PubMed:7504305, PubMed:7531687, PubMed:7544004, PubMed:7682706). In macrophages, NO mediates tumoricidal and bactericidal actions. Also has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such PTGS2/COX2 (By similarity). As component of the iNOS-S100A8/9 transnitrosylase complex involved in the selective inflammatory stimulus-dependent S-nitrosylation of GAPDH on 'Cys-247' implicated in regulation of the GAIT complex activity and probably multiple targets including ANXA5, EZR, MSN and VIM (PubMed:25417112). Involved in inflammation, enhances the synthesis of pro-inflammatory mediators such as IL6 and IL8 (PubMed:19688109)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Produces nitric oxide (NO) which is a messenger molecule with diverse functions., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 71, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1L3U5;B7ZLY2;O60757;O94994;Q16263;Q16692;Q4TTS5;Q9UD42", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.42", "type": "external" }, { "id": "1.3.3.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "1.4.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.3", "type": "external" }, { "id": "2.6.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.51", "type": "external" }, { "id": "2.6.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.44", "type": "external" }, { "id": "2.3.1.176", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.176", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "4.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.4", "type": "external" }, { "id": "2.3.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.137", "type": "external" }, { "id": "2.3.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.7", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.5.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.13", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.4.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.1", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.38", "type": "external" }, { "id": "1.3.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.124", "type": "external" }, { "id": "1.1.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.3.15", "type": "external" }, { "id": "1.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.1", "type": "external" }, { "id": "1.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.7", "type": "external" }, { "id": "5.1.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.4", "type": "external" }, { "id": "4.1.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.63", "type": "external" }, { "id": "1.2.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.3.5", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0004517 nitric-oxide synthase activity;GO:0034617 tetrahydrobiopterin binding;GO:0005516 calmodulin binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005782 peroxisomal matrix", "go_biological_process": "GO:0043457 regulation of cellular respiration;GO:0006954 inflammatory response;GO:0010629 negative regulation of gene expression;GO:0018119 peptidyl-cysteine S-nitrosylation;GO:0032496 response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 20.9, "record_id": "P35228-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCJ0-1", "uniprot_id": [ { "id": "FBX25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCJ0", "type": "external" } ], "mass": 43313.0, "length": 367, "protein_name": "F-box only protein 25", "gene_name": "FBXO25", "organism": "Human", "refseq_name": "F-box only protein 25 isoform 3", "refseq_ac": [ { "id": "NP_036305", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036305", "type": "external" } ], "gene_names_uniprotkb": "FBXO25; FBX25", "gene_names_refseq": "FBX25; FBXO25", "protein_names_uniprotkb": "F-box only protein 25", "protein_names_refseq": "F-box only protein 25 isoform 3; F-box only protein 25; F-box protein Fbx25", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094)", "pathway": " (hsa:26260)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10531035;11237011;16249884;16278047;18287534;20112406;20473970;22544926;23481700;24715725;25576301;25645385;26992070;27600516;27846572;27920218;28063628;28832583;28904123;29242379;29393594;29493099;29508533;29632046;30315122;30429286;30524438;31844290;31848261;32157095;32265295;32335130;32387766;32502341;32897882;32938616;32983136;33428929;33592498;33936100;33968037;33981976;34087483;34405274;34509645;35051231", "class_list": "", "function": "ELK-1 ubiquitination status and transcriptional activity are modulated independently of F-Box protein FBXO25., [RefSeq, PubMed]; FBXO25 Promotes Cutaneous Squamous Cell Carcinoma Growth and Metastasis through Cyclin D1., [RefSeq, PubMed]; Investigated hFBX25's genomic organization and established hFBX25 as an FBP by verifying its interaction with Skp1 and Cul1, [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) (By similarity)., [UniProtKB]; The cellular distribution of FBXO25 and its colocalization with some nuclear proteins is investigated by using immunochemical and biochemical approaches., [RefSeq, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PJ83;Q7Z4V4;Q9UKB8", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0019005 SCF ubiquitin ligase complex;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q8TCJ0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96K12-1", "uniprot_id": [ { "id": "FACR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96K12", "type": "external" } ], "mass": 59438.0, "length": 515, "protein_name": "Fatty acyl-CoA reductase 2", "gene_name": "FAR2", "organism": "Human", "refseq_name": "fatty acyl-CoA reductase 2 isoform 1", "refseq_ac": [ { "id": "NP_001258712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258712", "type": "external" } ], "gene_names_uniprotkb": "FAR2; MLSTD1", "gene_names_refseq": "FAR2; HEL-S-81; MLSTD1; SDR10E2", "protein_names_uniprotkb": "Fatty acyl-CoA reductase 2; 1.2.1.84; FAR2; Male sterility domain-containing protein 1", "protein_names_refseq": "epididymis secretory protein Li 81; fatty acyl-CoA reductase 2 isoform 1; male sterility domain-containing protein 1; short chain dehydrogenase/reductase family 10E, member 2", "tax_id": 9606, "disease": "dry eye syndrome (Disease Ontology:DOID:10140); alopecia (Disease Ontology:DOID:987)", "pathway": " (hsa:55711); (R-HSA-9640463)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "11230166;11237011;15220348;15220349;15671038;16106050;22424782;23481700;24108123;25548167;25645385;26154972;26992070;27397612;27600516;27862975;28096191;28228285;28832583;28855257;28904123;29242379;29437277;29493099;29508533;29557506;29652635;29786170;30410026;30429286;30451992;30524438;31154438;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33537174;33592498;33912179;33936100;34078123;34087483;34171305;34185709;34357683;34405274;34509645;34561969;35051231;35238077;35580925;36010968;36284347;37938771", "class_list": "", "function": "Catalyzes the reduction of fatty acyl-CoA to fatty alcohols., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Catalyzes the reduction of saturated but not unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (FAls) (PubMed:15220348). A lower activity can be observed with shorter fatty acyl-CoA substrates (PubMed:15220348). Can produce very long-chain and ultra long-chain FAls, regardless of whether they have a straight or branched chain (PubMed:35238077). Involved in the production of ether lipids/plasmalogens and wax monoesters whose synthesis requires FAls as substrates (PubMed:24108123, PubMed:35238077)., [UniProtKB, PubMed, PubMed, PubMed]; Fatty alcohol synthesis in mammals is accomplished by two fatty acyl-CoA reductase isozymes that are expressed at high levels in tissues known to synthesize wax monoesters and ether lipids, [RefSeq, PubMed]; Results indicate fatty acyl CoA reductase 2 FAR2's role in the development of mesangial matrix expansion and chronic kidney disease., [RefSeq, PubMed]; This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]., [RefSeq]; Wax monoester synthesis in mammals involves a two step biosynthetic pathway catalyzed by fatty acyl-CoA reductase and wax synthase enzymes, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "F8VV73;Q9H0D5;Q9NVW8", "ec_number_list": [ { "id": "1.2.1.84", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.84", "type": "external" } ], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0080019 alcohol-forming very long-chain fatty acyl-CoA reductase activity;GO:0102965 alcohol-forming long-chain fatty acyl-CoA reductase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005778 peroxisomal membrane", "go_biological_process": "GO:0035336 long-chain fatty-acyl-CoA metabolic process;GO:0010025 wax biosynthetic process;GO:1901568 fatty acid derivative metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q96K12-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B1AJZ9-1", "uniprot_id": [ { "id": "FHAD1_HUMAN", "url": "https://www.uniprot.org/uniprot/B1AJZ9", "type": "external" } ], "mass": 161904.0, "length": 1412, "protein_name": "Forkhead-associated domain-containing protein 1", "gene_name": "FHAD1", "organism": "Human", "refseq_name": "forkhead-associated domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_443161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443161", "type": "external" } ], "gene_names_uniprotkb": "FHAD1; KIAA1937", "gene_names_refseq": "FHAD1", "protein_names_uniprotkb": "Forkhead-associated domain-containing protein 1; FHA domain-containing protein 1", "protein_names_refseq": "FHA domain-containing protein 1; forkhead-associated (FHA) phosphopeptide binding domain 1; forkhead-associated domain-containing protein 1 isoform 1; forkhead-associated domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:114827)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;18452278;23481700;24366607;25576301;25645385;25880248;26375851;27920218;28904123;29242379;30379171;30484775;31429579;32157095;32357974;32488085;33141586;33691108", "class_list": "", "function": "Regulator of sperm motility and spermatocyte meiosis., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q0P6F5;Q8N8D3;Q8N9T6;Q8NA05", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "B1AJZ9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNN4-1", "uniprot_id": [ { "id": "TF2AY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNN4", "type": "external" } ], "mass": 52444.0, "length": 478, "protein_name": "TFIIA-alpha and beta-like factor", "gene_name": "GTF2A1L", "organism": "Human", "refseq_name": "TFIIA-alpha and beta-like factor isoform 2", "refseq_ac": [ { "id": "NP_001180416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180416", "type": "external" } ], "gene_names_uniprotkb": "GTF2A1L; ALF; GTF2A1LF", "gene_names_refseq": "ALF; GTF2A1L", "protein_names_uniprotkb": "TFIIA-alpha and beta-like factor; General transcription factor II A, 1-like factor", "protein_names_refseq": "GTF2A1-like factor; TFIIA-alpha and beta-like factor isoform 2; TFIIA-alpha and beta-like factor; TFIIA-alpha/beta-like factor; general transcription factor II A, 1-like factor; general transcription factor IIA 1-like; testis secretory sperm-binding protein Li 230m", "tax_id": 9606, "disease": "", "pathway": " (hsa:11036)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10364255;11237011;12107178;16525715;16646664;25374392;35051231", "class_list": "", "function": "May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and together with GTF2A2, allows mRNA transcription., [UniProtKB, PubMed]; Our results provided a new insight into susceptibility of USF1 variant with male infertility. rs11204546 of OR2W3 and rs11677854 of GTF2A1L might be additional valuable molecular predictive markers, [RefSeq, PubMed]; TFIIA tau is associated with undifferentiated cells during development, yet is down-regulated at the chromatin level upon cellular differentiation., [RefSeq, PubMed]; The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DY14;Q53FD9;Q5D050", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005672 transcription factor TFIIA complex", "go_biological_process": "GO:0050890 cognition;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9UNN4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60216-1", "uniprot_id": [ { "id": "RAD21_HUMAN", "url": "https://www.uniprot.org/uniprot/O60216", "type": "external" } ], "mass": 71690.0, "length": 631, "protein_name": "Double-strand-break repair protein rad21 homolog", "gene_name": "RAD21", "organism": "Human", "refseq_name": "double-strand-break repair protein rad21 homolog", "refseq_ac": [ { "id": "NP_006256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006256", "type": "external" } ], "gene_names_uniprotkb": "RAD21; HR21; KIAA0078; NXP1; SCC1", "gene_names_refseq": "CDLS4; HR21; HRAD21; MCD1; MGS; NXP1; RAD21; SCC1; hHR21", "protein_names_uniprotkb": "Double-strand-break repair protein rad21 homolog; 64-kDa carboxy-terminal product; 65-kDa carboxy-terminal product; NXP-1; Nuclear matrix protein 1; SCC1 homolog; hHR21", "protein_names_refseq": "NXP-1; RAD21 homolog; SCC1 homolog; double-strand-break repair protein rad21 homolog; kleisin; nuclear matrix protein 1; protein involved in DNA double-strand break repair; sister chromatid cohesion 1", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); colorectal carcinoma (Disease Ontology:DOID:0080199); Cornelia de Lange syndrome 4 (Disease Ontology:DOID:0080508); Cornelia de Lange syndrome (Disease Ontology:DOID:11725); brain cancer (Disease Ontology:DOID:1319); endometrial cancer (Disease Ontology:DOID:1380); congenital heart disease (Disease Ontology:DOID:1682); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hepatocellular carcinoma (Disease Ontology:DOID:684); Mungan syndrome (MONDO:MONDO:0012657)", "pathway": " (hsa:5885); (R-HSA-1221632); (R-HSA-2467813); (R-HSA-2468052); (R-HSA-2470946); (R-HSA-2500257); (R-HSA-3108214); (R-HSA-9018519)", "pathway_count": 8, "publication_count": 337, "publication_id_list": "10411507;10500157;10574707;10623634;10828826;10873660;10931856;11010967;11034064;11073952;11081627;11103799;11136970;11165043;11237011;11345900;11371342;11410592;11452016;11483345;11509732;11581164;11590136;11673449;11682626;11792325;11875078;11889051;11931760;12194817;12198550;12417729;12498683;12612073;12959972;14631847;14675539;14730319;15001666;15125634;15175327;15235794;15276198;15282324;15339662;15343269;15345050;15355988;15514030;15608651;15723797;15737063;15821733;15823533;15829507;15837422;15940266;15958495;15959518;15986123;16009131;16030353;16046058;16087863;16113099;1630819;16478998;16541025;16608850;16626738;16682347;16688858;16810316;16980581;17013392;17105772;17112726;17113138;17277772;17463000;17495528;17510434;17637753;17666587;17690249;17693435;18097444;18187655;18219272;18256232;18322535;18358809;18411254;18452278;18476782;18533032;18614053;18625722;18669648;18691969;18708356;18716626;18762174;18805503;18991276;19001364;19020303;19098913;19146767;19274700;19287951;19295514;19321454;19383337;19413330;19596686;19622798;19690332;19696148;19706679;19718048;19779455;19956565;19965387;20016594;20016603;20068231;20112406;20190268;20219941;20220130;20498280;20570965;20634189;20682797;20705237;21098080;21106759;21111234;21147198;21151129;21284855;21445275;21550342;21573489;2181374;21835891;21878504;21878914;21934649;21940756;21987589;22056668;22101327;22265404;22492511;22508508;22545144;22628566;22633399;22635276;22645359;22661230;22704330;22751501;22885700;22898188;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23481700;23723241;23750026;23871147;23906331;24027577;24167369;24275569;24366607;24371278;24714562;24715725;24735615;24782567;24854081;24885040;24973012;24998469;25114211;25218447;25296600;25365482;25433557;25469497;25542856;25575569;25576301;25633194;25645385;25663755;25674852;25728767;26056233;26153859;26154972;26204489;26375851;26462610;26479350;26768311;26811146;26929215;26992070;27062924;27600516;27846572;27862975;27886276;27920218;28063628;28218747;28228285;28446606;28514659;28539435;28649982;28832583;28860189;28904123;2919170;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;3045126;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31334757;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32409525;32488085;32502341;3281094;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34260926;34405274;34509645;34561969;34932366;3498214;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;3677090;37938771;38378967;39190349;39894887;40914422;7559524;7935485;7937828;8195246;8197458;8291532;8419924;8794855;8812457;8876171;9008167;9201922;9285814;9338790;9388265;9412458;9452416;9611253;9649503;9671459;9731700;9756909;9885291;9892021", "class_list": "", "function": "As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosome segregation, post-replicative DNA repair, and the prevention of inappropriate recombination between repetitive regions (PubMed:11509732). The cohesin complex may also play a role in spindle pole assembly during mitosis (PubMed:11590136). In interphase, cohesins may function in the control of gene expression by binding to numerous sites within the genome (By similarity). May control RUNX1 gene expression (Probable). Binds to and represses APOB gene promoter (PubMed:25575569). May play a role in embryonic gut development, possibly through the regulation of enteric neuron development (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB]; May promote apoptosis., [UniProtKB, PubMed, PubMed]; NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer. Erratum:[Commun Biol. 2024 Apr 1;7(1):397. doi: 10.1038/s42003-024-06085-w. PMID: 38561443] Publication Status: Online-Only, [RefSeq, PubMed]; RAD21 promotes oncogenesis and lethal progression of prostate cancer., [RefSeq, PubMed]; The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0E0;Q15001;Q99568", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0000987 cis-regulatory region sequence-specific DNA binding;GO:0140297 DNA-binding transcription factor binding;GO:0106222 lncRNA binding", "go_cellular_component": "GO:0030893 meiotic cohesin complex;GO:0000794 condensed nuclear chromosome;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006310 DNA recombination;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007059 chromosome segregation;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 34.0, "record_id": "O60216-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3C7-1", "uniprot_id": [ { "id": "MED31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3C7", "type": "external" } ], "mass": 15805.0, "length": 131, "protein_name": "Mediator of RNA polymerase II transcription subunit 31", "gene_name": "MED31", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 31", "refseq_ac": [ { "id": "NP_057144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057144", "type": "external" } ], "gene_names_uniprotkb": "MED31; CGI-125; SOH1", "gene_names_refseq": "3110004H13Rik; CGI-125; MED31; SEP10; Soh1", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 31; Mediator complex subunit 31; Mediator complex subunit SOH1; hSOH1", "protein_names_refseq": "hSOH1; mediator complex subunit SOH1; mediator of RNA polymerase II transcription subunit 31; mediator of RNA polymerase II transcription, subunit 31 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:51003); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 109, "publication_id_list": "10024883;10075656;10235266;10330177;10425206;10558993;10777541;10835357;10882139;11027271;11095972;11237011;11267664;11395415;11607032;11867769;11872672;12118000;12177166;12213831;12505311;12582161;12584197;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16606702;16719718;16972786;17011499;17761950;17980149;18420935;18540824;18691976;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20101261;20110263;20410276;2163759;22090124;23239344;24196956;25576301;25854864;25892735;27846572;28514659;28832583;28904123;29242379;29393594;29493099;29769354;30429286;30833945;31844290;31848261;32938616;33329381;33717175;34019948;34087483;34171305;34357683;35051231;35580925;36102648;7685352;7892212;8183939;8325954;8521497;8521498;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9171241;9454824;9637681;9653119;9744270;9748239;9836620", "class_list": "", "function": "Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4L9", "ec_number_list": [], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000151 ubiquitin ligase complex;GO:0016592 mediator complex;GO:0070847 core mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0016567 protein ubiquitination;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9Y3C7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14207-1", "uniprot_id": [ { "id": "FOLR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P14207", "type": "external" } ], "mass": 29280.0, "length": 255, "protein_name": "Folate receptor beta", "gene_name": "FOLR2", "organism": "Human", "refseq_name": "folate receptor beta precursor", "refseq_ac": [ { "id": "NP_000794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000794", "type": "external" } ], "gene_names_uniprotkb": "FOLR2", "gene_names_refseq": "BETA-HFR; FBP/PL-1; FBP; FOLR2; FR-BETA; FR-P3; FRbeta", "protein_names_uniprotkb": "Folate receptor beta; FBP; FR-beta; Folate receptor 2; Folate receptor, fetal/placental; Placental folate-binding protein", "protein_names_refseq": "folate receptor 2 (fetal); folate receptor alpha; folate receptor beta precursor; folate receptor, fetal/placental; folate-binding protein, fetal/placental; placental folate-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:2350); (R-HSA-163125); (R-HSA-196757)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10091649;10347183;10978331;11072085;11237011;12937168;16171773;16959974;17129779;17308042;17962486;19424049;19948730;20498374;20632143;21163947;21238436;21876188;2248959;23409799;23934049;2443973;24733394;2561247;2605182;29557506;3053686;31154438;31848261;32423175;32658475;32983136;33053560;33163492;34185709;3422494;35255727;35394484;35545363;35580925;36284347;37883728;37938771;3801490;38166756;3871768;4066659;6323448;7578066;7726158;7852378;8106441;8218174;8445646;8522195;8662720;9398177;9753690", "class_list": "", "function": "Association of periconceptional folate supplements and FOLR1 and FOLR2 gene polymorphisms with risk of congenital heart disease in offspring: A hospital-based case-control study.', trans 'FOLR1FOLR2., [RefSeq, PubMed]; Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release., [UniProtKB, PubMed, PubMed, PubMed]; FOLR2+ Macrophages Are Associated with T-cell Infiltration and Improved Prognosis., [RefSeq, PubMed]; Folate Receptor Expression by Human Monocyte-Derived Macrophage Subtypes and Effects of Corticosteroids., [RefSeq, PubMed]; MicroRNA-622 upregulates cell cycle process by targeting FOLR2 to promote CRC proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele., [RefSeq, PubMed]; The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q05CA5;Q6GTE8", "ec_number_list": [], "go_molecular_function": "GO:0005542 folic acid binding;GO:0061714 folic acid receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0035036 sperm-egg recognition;GO:0006954 inflammatory response;GO:0007155 cell adhesion;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P14207-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8ND83-1", "uniprot_id": [ { "id": "SLAI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8ND83", "type": "external" } ], "mass": 60595.0, "length": 568, "protein_name": "SLAIN motif-containing protein 1", "gene_name": "SLAIN1", "organism": "Human", "refseq_name": "SLAIN motif-containing protein 1 isoform A", "refseq_ac": [ { "id": "NP_001035243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035243", "type": "external" } ], "gene_names_uniprotkb": "SLAIN1; C13orf32", "gene_names_refseq": "C13orf32; SLAIN1", "protein_names_uniprotkb": "SLAIN motif-containing protein 1", "protein_names_refseq": "SLAIN motif family member 1; SLAIN motif-containing protein 1 isoform A; SLAIN motif-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:122060)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;16546155;19690332;21646404;23301498;23481700;24397554;24714562;25505266;25576301;26375851;26728094;27846572;27920218;28218747;28228285;28649982;28657654;28832583;28834231;28882895;28904123;29237092;29242379;29393594;29437277;29508533;29632046;30315122;30410026;30620550;31092671;31154438;31217245;31530632;31844290;31998317;32157095;32357974;32387766;32502341;32897882;32938750;32983136;33141586;33298915;33717175;33912179;33936100;33968037;34171305;34509645;34932366;35051231;35132862;35254053;35705054;36241641;37340703;37541260;40307207", "class_list": "", "function": "Expressed at the stem cell and epiblast stages of embryonic stem cell differentiation., [RefSeq, PubMed]; Microtubule plus-end tracking protein that might be involved in the regulation of cytoplasmic microtubule dynamics, microtubule organization and microtubule elongation., [UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A8K0Z9;B7Z209;Q5T6P4;Q5T6P7;Q8ND10;Q96NV0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005856 cytoskeleton", "go_biological_process": "GO:0007020 microtubule nucleation;GO:0031116 positive regulation of microtubule polymerization;GO:0031122 cytoplasmic microtubule organization", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q8ND83-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14559-1", "uniprot_id": [ { "id": "RHG33_HUMAN", "url": "https://www.uniprot.org/uniprot/O14559", "type": "external" } ], "mass": 137213.0, "length": 1287, "protein_name": "Rho GTPase-activating protein 33", "gene_name": "ARHGAP33", "organism": "Human", "refseq_name": "rho GTPase-activating protein 33 isoform 2", "refseq_ac": [ { "id": "NP_001166101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166101", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP33; SNX26; TCGAP", "gene_names_refseq": "ARHGAP33; NOMA-GAP; SNX26; TCGAP", "protein_names_uniprotkb": "Rho GTPase-activating protein 33; Rho-type GTPase-activating protein 33; Sorting nexin-26; Tc10/CDC42 GTPase-activating protein", "protein_names_refseq": "neurite outgrowth multiadaptor RhoGAP protein; rho GTPase-activating protein 33 isoform 2; rho GTPase-activating protein 33; rho-type GTPase-activating protein 33; sorting nexin 26; tc10/CDC42 GTPase-activating protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:115703); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013406)", "pathway_count": 4, "publication_count": 297, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10958683;10967094;11007481;11058585;11085924;11149925;11185749;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221096;12242347;12351724;12432077;12456725;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15546864;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17664338;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18660489;18786931;18835169;18838382;18929667;19258391;19269969;19494238;19605563;19673492;19713215;19934221;20400958;20460433;20679435;20810653;20873783;21148482;21406692;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22734669;22970203;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23940355;24086303;24259668;24297911;24335996;24352656;24355937;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25645385;25678704;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26839058;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;28028151;28114311;28196833;28228285;28825699;28832583;28860633;28904123;29089502;29242379;29351928;29358323;29382922;29557506;30061681;30315122;30379171;30853411;31844290;31871319;32203420;32357974;32938616;33298915;33633747;33936100;33968037;34171305;35051231;35580925;36215666;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "ARHGAP33 is associated with brain phenotypes of patients with schizophrenia. Erratum:[Nat Commun. 2016 Apr 20;7:11466. doi: 10.1038/ncomms11466. PMID: 27095349] Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results show that neurite outgrowth multiadaptor RhoGAP protein, NOMA-GAP, plays an essential role downstream of NGF in promoting neurite outgrowth and extension by recruiting SHP2 and activating Cdc42., [RefSeq, PubMed]; TCGAP interacts with Fyn and is phosphorylated by Fyn, with tyrosine-406 in the GTPase-activating protein (GAP) domain as a major Fyn-mediated phosphorylation site., [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 0, "predicted_o_glycosites": 9, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "O14552;O14560;Q6ZSP6;Q96CP3;Q9NT23", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0019901 protein kinase binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0032991 protein-containing complex", "go_biological_process": "GO:0015031 protein transport;GO:0007264 small GTPase-mediated signal transduction;GO:0061001 regulation of dendritic spine morphogenesis;GO:0150052 regulation of postsynapse assembly;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 30.4, "record_id": "O14559-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5Y0-1", "uniprot_id": [ { "id": "FLVC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5Y0", "type": "external" } ], "mass": 59863.0, "length": 555, "protein_name": "Choline/ethanolamine transporter FLVCR1", "gene_name": "FLVCR1", "organism": "Human", "refseq_name": "choline/ethanolamine transporter FLVCR1", "refseq_ac": [ { "id": "NP_054772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054772", "type": "external" } ], "gene_names_uniprotkb": "FLVCR1; FLVCR", "gene_names_refseq": "AXPC1; FLVCR1; FLVCR; MFSD7B; NEDMISH; PCARP; PCA; RETSNS; SLC49A1", "protein_names_uniprotkb": "Choline/ethanolamine transporter FLVCR1; Feline leukemia virus subgroup C receptor-related protein 1; Feline leukemia virus subgroup C receptor; Heme transporter FLVCR1; SLC49A1; Solute carrier family 49 member 1; hFLVCR", "protein_names_refseq": "FLVCR heme transporter 1; choline/ethanolamine transporter FLVCR1; feline leukemia virus subgroup C cellular receptor 1; feline leukemia virus subgroup C receptor-related protein 1; heme transporter FLVCR1", "tax_id": 9606, "disease": "neurodevelopmental disorder with microcephaly, absent speech, and hypotonia (Disease Ontology:DOID:0051030); retinopathy sensory neuropathy syndrome (Disease Ontology:DOID:0061157); Diamond-Blackfan anemia (Disease Ontology:DOID:1339)", "pathway": " (hsa:28982)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "10400745;11237011;11943475;15369674;16439531;18578522;18669648;18815190;19413330;19415658;19690332;20068231;20112406;20610401;21070897;21267618;21654843;22483575;23186163;23187127;24714562;24715725;25502872;25505266;25576301;25892735;26375851;26992070;27846572;27920218;27923065;28218747;28657654;28766925;28834231;28904123;29242379;29314611;29393594;29437277;29557506;29769354;30315122;30444160;30484775;30626607;31154438;31217245;31611695;31844290;32157095;32350084;32357974;32387766;32897882;32938616;33298915;33537174;33912179;33968037;33981976;34078123;34087483;34171305;34185709;34357683;34405274;34433824;34509645;35051231;35251023;35580925;36010968;36215666;36241641;37100056;38693265;38778100;39237990;39306721;40972734", "class_list": "", "function": "(Microbial infection) Confers susceptibility to feline leukemia virus subgroup C (FeLV-C) infection in vitro., [UniProtKB, PubMed]; Alternative splicing of FLVCR1 transcripts and subsequent FLVCR1 insufficiency is an additional contributing factor to the erythropoietic defect observed in Diamond-Blackfan anemia., [RefSeq, PubMed]; Apoptotic metabolites ameliorate bone aging phenotypes via TCOF1/FLVCR1-mediated mitochondrial homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Heme b transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation., [UniProtKB, PubMed]; These results suggest that aberrant FLVCR1 causes a selective degeneration of a subpopulation of neurons in the retina and the posterior columns of the spinal cord via dysregulation of heme or iron homeostasis., [RefSeq, PubMed]; This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]., [RefSeq]; Uniporter that mediates the transport of extracellular choline and ethanolamine into cells (PubMed:37100056, PubMed:38693265). Choline and ethanolamine are the precursors of phosphatidylcholine and phosphatidylethanolamine, respectively, the two most abundant phospholipids (PubMed:38693265). Transport is not coupled with proton transport and is exclusively driven by the choline (or ethanolamine) gradient across the plasma membrane (PubMed:38693265). Also acts as a heme b transporter that mediates heme efflux from the cytoplasm to the extracellular compartment (PubMed:15369674, PubMed:20610401, PubMed:22483575, PubMed:23187127, PubMed:27923065). Heme export depends on the presence of HPX and is required to maintain intracellular free heme balance, protecting cells from heme toxicity (PubMed:20610401). Heme export provides protection from heme or ferrous iron toxicities in liver, brain, sensory neurons and during erythropoiesis, a process in which heme synthesis intensifies (PubMed:20610401, PubMed:23187127). Possibly export coproporphyrin and protoporphyrin IX, which are both intermediate products in the heme biosynthetic pathway (PubMed:20610401). Does not export bilirubin (PubMed:20610401). The molecular mechanism of heme transport, whether electrogenic, electroneutral or coupled to other ions, remains to be elucidated (PubMed:20610401, PubMed:23187127)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Uniporter that mediates the transport of extracellular choline and ethanolamine into cells, thereby playing a key role in phospholipid biosynthesis (PubMed:37100056, PubMed:38693265, PubMed:38778100, PubMed:39306721, PubMed:40972734). Choline and ethanolamine are the precursors of phosphatidylcholine and phosphatidylethanolamine, respectively, the two most abundant phospholipids (PubMed:38693265, PubMed:38778100). Transport is not coupled with proton transport and is exclusively driven by the choline (or ethanolamine) gradient across the plasma membrane (PubMed:38693265, PubMed:38778100). Also acts as a heme b transporter that mediates heme efflux from the cytoplasm to the extracellular compartment (PubMed:15369674, PubMed:20610401, PubMed:22483575, PubMed:23187127, PubMed:27923065)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q1HE16;Q86XY9;Q9NVR9", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015232 heme transmembrane transporter activity;GO:0020037 heme binding;GO:0015220 choline transmembrane transporter activity;GO:0034228 ethanolamine transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0043249 erythrocyte maturation;GO:0006839 mitochondrial transport;GO:0006879 intracellular iron ion homeostasis;GO:0030218 erythrocyte differentiation;GO:0015886 heme transport", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9Y5Y0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N511-1", "uniprot_id": [ { "id": "VMA12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N511", "type": "external" } ], "mass": 23130.0, "length": 208, "protein_name": "Vacuolar ATPase assembly protein VMA12", "gene_name": "VMA12", "organism": "Human", "refseq_name": "vacuolar ATPase assembly protein VMA12", "refseq_ac": [ { "id": "NP_689677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689677", "type": "external" } ], "gene_names_uniprotkb": "VMA12; C17orf32; TMEM199", "gene_names_refseq": "C17orf32; CDG2P; TMEM199; VMA12; VPH2", "protein_names_uniprotkb": "Vacuolar ATPase assembly protein VMA12; Transmembrane protein 199", "protein_names_refseq": "transmembrane protein 199; vacuolar ATPase assembly protein VMA12", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIp (Disease Ontology:DOID:0070268)", "pathway": " (hsa:147007)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;22223895;24715725;25576301;25892735;26833330;27846572;27920218;28228285;28296633;28514659;28832583;28855257;28904123;29242379;29493099;29557506;30315122;30484775;30524438;31092671;31154438;31222486;31844290;32157095;32161166;32387766;32488085;32502341;32938616;32983136;33141586;33691108;33717175;33912179;33936100;33968037;34211107;34509645;34626841;34799735;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36706865;37938771", "class_list": "", "function": "Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833330). Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115., [RefSeq, PubMed]; Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation., [RefSeq, PubMed]; The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]., [RefSeq]; Vacuolar H+ ATPase (V-ATPase), the key proton pump for endo-lysosomal acidification, and two previously uncharacterised V-ATPase assembly factors, TMEM199 and CCDC115, stabilise HIF1alpha in aerobic conditions. Publication Status: Online-Only, [RefSeq, PubMed]; We have identified TMEM199 as a protein involved in Golgi homeostasis and show that TMEM199 deficiency results in a hepatic phenotype with abnormal glycosylation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008142 oxysterol binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005764 lysosome;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly;GO:0007042 lysosomal lumen acidification;GO:0036295 cellular response to increased oxygen levels;GO:1905146 lysosomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q8N511-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13642-2", "uniprot_id": [ { "id": "FHL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13642", "type": "external" } ], "mass": 36263.0, "length": 323, "protein_name": "Four and a half LIM domains protein 1", "gene_name": "FHL1", "organism": "Human", "refseq_name": "four and a half LIM domains protein 1 isoform 5", "refseq_ac": [ { "id": "NP_001153171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153171", "type": "external" } ], "gene_names_uniprotkb": "FHL1; SLIM1", "gene_names_refseq": "FCMSU; FHL-1; FHL1A; FHL1B; FHL1; FLH1A; KYOT; RBMX1A; RBMX1B; SLIM-1; SLIM1; SLIMMER; SLIM; XMPMA", "protein_names_uniprotkb": "Four and a half LIM domains protein 1; FHL-1; SLIM-1; SLIM; Skeletal muscle LIM-protein 1", "protein_names_refseq": "LIM protein SLIMMER; four and a half LIM domains protein 1 isoform 5; four-and-a-half Lin11, Isl-1 and Mec-3 domains 1; skeletal muscle LIM-protein 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); myelodysplastic syndrome (Disease Ontology:DOID:0050908); scapuloperoneal myopathy (Disease Ontology:DOID:0060253); X-linked Emery-Dreifuss muscular dystrophy 6 (Disease Ontology:DOID:0070251); reducing body myopathy 1A (Disease Ontology:DOID:0080090); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); reducing body myopathy 1B (Disease Ontology:DOID:0080687); Uruguay faciocardiomusculoskeletal syndrome (Disease Ontology:DOID:0112148); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); systemic primary carnitine deficiency disease (Disease Ontology:DOID:14365); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); myopathy (Disease Ontology:DOID:423); congestive heart failure (Disease Ontology:DOID:6000); inherited metabolic disorder (Disease Ontology:DOID:655); Crohn's disease (Disease Ontology:DOID:8778)", "pathway": " (hsa:2273)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;10352231;10480922;10524257;11400158;12665801;18179888;18179901;18274675;19139564;19171836;19181672;19608861;19687455;19716112;20186852;23169582;25218447;26933038;26992070;27234031;28834231;29557506;30379171;31154438;31554973;31844290;31848261;32157095;32350084;32983136;33214551;33592498;34019948;34229054;35051231;35138101;35251023;36215666;38665916;39119938;40596516;7626119;8753811;9714789", "class_list": "", "function": "As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found., [RefSeq, PubMed]; FHL1: A novel diagnostic marker for papillary thyroid carcinoma., [RefSeq, PubMed]; Human four-and-a-half LIM family members suppress tumor cell growth through a TGF-beta-like signaling pathway., [RefSeq, PubMed]; May have an involvement in muscle development or hypertrophy., [UniProtKB]; This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 15, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5T4;B7Z793;O95212;Q13230;Q13645;Q5JXI7;Q5M7Y6;Q6IB30;Q9NZ40;Q9UKZ8;Q9Y630", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0044325 transmembrane transporter binding;GO:0099104 potassium channel activator activity;GO:0099103 channel activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0030154 cell differentiation;GO:0007517 muscle organ development;GO:0009887 animal organ morphogenesis;GO:0030308 negative regulation of cell growth;GO:1901381 positive regulation of potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q13642-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IV6-1", "uniprot_id": [ { "id": "FXDC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IV6", "type": "external" } ], "mass": 39002.0, "length": 333, "protein_name": "Fatty acid hydroxylase domain-containing protein 2", "gene_name": "FAXDC2", "organism": "Human", "refseq_name": "fatty acid hydroxylase domain-containing protein 2", "refseq_ac": [ { "id": "NP_115761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115761", "type": "external" } ], "gene_names_uniprotkb": "FAXDC2; C5orf4", "gene_names_refseq": "C5orf4; FAXDC2", "protein_names_uniprotkb": "Fatty acid hydroxylase domain-containing protein 2", "protein_names_refseq": "fatty acid hydroxylase domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10826)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;17081983;25548167;26154972;27689744;27846572;27862975;29557506;30429286;31844290;32157095;32387766;32488085;32938616;35051231;35580925", "class_list": "", "function": "Promotes megakaryocyte differentiation by enhancing ERK phosphorylation and up-regulating RUNX1 expression., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DIE1;Q9BSX6;Q9H8C7", "ec_number_list": [], "go_molecular_function": "GO:0000254 C-4 methylsterol oxidase activity;GO:0005506 iron ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0016126 sterol biosynthetic process;GO:0045654 positive regulation of megakaryocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96IV6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92530-1", "uniprot_id": [ { "id": "PSMF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92530", "type": "external" } ], "mass": 29817.0, "length": 271, "protein_name": "Proteasome inhibitor PI31 subunit", "gene_name": "PSMF1", "organism": "Human", "refseq_name": "proteasome inhibitor PI31 subunit isoform 3", "refseq_ac": [ { "id": "NP_001310336", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310336", "type": "external" } ], "gene_names_uniprotkb": "PSMF1", "gene_names_refseq": "PI31; PSMF1", "protein_names_uniprotkb": "Proteasome inhibitor PI31 subunit; hPI31", "protein_names_refseq": "proteasome (prosome, macropain) inhibitor subunit 1 (PI31); proteasome inhibitor PI31 subunit isoform 3; proteasome inhibitor PI31 subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:9491); (R-HSA-9907900)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10764772;10973495;11237011;15831487;16251969;16990800;17189198;17322306;17540904;17948026;18495667;18669648;18767875;19490896;19690332;20068231;20471946;22223895;23186163;24129315;24397554;24714562;25418920;25576301;25645385;25810538;25892735;26154972;26992070;27846572;27920218;28218747;28228285;28263418;28442575;28510447;28514659;28598414;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29786170;30315122;30410026;30429286;30833945;31114588;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33651148;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34229054;34509645;34561969;35051231;35580925;36284347;36580660;36581221;37938771", "class_list": "", "function": "Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival., [RefSeq, PubMed]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVQ9;D3DVW3;Q9H4I1", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0004866 endopeptidase inhibitor activity;GO:0070628 proteasome binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005839 proteasome core complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0006511 ubiquitin-dependent protein catabolic process;GO:1901799 negative regulation of proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q92530-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12891-1", "uniprot_id": [ { "id": "HYAL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12891", "type": "external" } ], "mass": 53860.0, "length": 473, "protein_name": "Hyaluronidase-2", "gene_name": "HYAL2", "organism": "Human", "refseq_name": "hyaluronidase-2 precursor", "refseq_ac": [ { "id": "NP_003764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003764", "type": "external" } ], "gene_names_uniprotkb": "HYAL2; LUCA2", "gene_names_refseq": "HYAL2; LUCA2; MCCS", "protein_names_uniprotkb": "Hyaluronidase-2; 3.2.1.35; Hyal-2; Hyaluronoglucosaminidase-2; LuCa-2; Lung carcinoma protein 2", "protein_names_refseq": "PH-20 homolog; PH20 homolog; hyal-2; hyaluronidase-2 precursor; hyaluronoglucosaminidase 2; lung carcinoma protein 2; lysosomal hyaluronidase", "tax_id": 9606, "disease": "pulmonary hypertension (Disease Ontology:DOID:6432); Muggenthaler-Chowdhury-Chioza syndrome (MONDO:MONDO:0976127)", "pathway": " (hsa:8692); (R-HSA-2142845); (R-HSA-2160916)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10.1074/mcp.M114.046862;10037799;11237011;11296287;11350981;11568288;11731268;12676986;1426053;14514708;15035633;15090545;15208308;15503855;15510212;16104017;1703543;17050540;17145755;17540771;18434317;23509262;24190977;24847057;25813380;26154972;26633546;26992070;27600516;27920218;28081210;28832583;28834231;29242379;29557506;2971395;30429286;31123603;31154438;31844290;32157095;32350084;32938616;32983136;33912179;33968037;34087483;3468507;34906488;34932366;35051231;35249879;35251023;35580925;36284347;37074911;37340703;37938771;8282124;8798477;8798544;8890751;8901634;9083017;9601098;9712871;9933825", "class_list": "glycogene;glycosylhydrolase", "function": "Catalyzes hyaluronan degradation into small fragments that are endocytosed and degraded in lysosomes by HYAL1 and exoglycosidases (PubMed:9712871). Essential for the breakdown of extracellular matrix hyaluronan (PubMed:28081210)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency., [RefSeq, PubMed]; Similar in structure to hyaluronidases, which intracellularly degrade hyaluronan. The accumulation of hyaluronan (HA) in the renal cortex is a characteristic feature of inflammatory renal diseases and could participate in immune renal injury., [RefSeq, PubMed]; This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010]., [RefSeq]; [Detection of DNA methylation of HYAL2 gene for differentiating malignant from benign thyroid tumors]., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 595, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B3KRZ2;O15177;Q9BW29", "ec_number_list": [ { "id": "3.2.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.35", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0019899 enzyme binding;GO:0001618 virus receptor activity;GO:0030971 receptor tyrosine kinase binding;GO:0050431 transforming growth factor beta binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0010764 negative regulation of fibroblast migration;GO:0071493 cellular response to UV-B;GO:0042117 monocyte activation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q12891-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011001.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CS3-1", "uniprot_id": [ { "id": "FAF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CS3", "type": "external" } ], "mass": 52623.0, "length": 445, "protein_name": "FAS-associated factor 2", "gene_name": "FAF2", "organism": "Human", "refseq_name": "FAS-associated factor 2", "refseq_ac": [ { "id": "NP_055428", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055428", "type": "external" } ], "gene_names_uniprotkb": "FAF2; ETEA; KIAA0887; UBXD8; UBXN3B", "gene_names_refseq": "ETEA; FAF2; UBXD8; UBXN3B", "protein_names_uniprotkb": "FAS-associated factor 2; UBX domain-containing protein 3B; UBX domain-containing protein 8", "protein_names_refseq": "FAS-associated factor 2; UBX domain containing 8; UBX domain protein 3B; UBX domain-containing protein 3B; UBX domain-containing protein 8; expressed in T-cells and eosinophils in atopic dermatitis", "tax_id": 9606, "disease": "", "pathway": " (hsa:23197); (R-HSA-6798695); (R-HSA-8980692)", "pathway_count": 3, "publication_count": 238, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12372427;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18711132;18829452;19494238;19605563;19608861;19635168;19673492;19713215;19773358;19818707;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23200924;23255595;23297223;23434736;23481700;23572525;23650620;23783831;23870313;24086303;24128008;24160817;24215460;24259668;24335996;24352656;24366607;24714562;24715725;24933155;25211221;25576301;25704760;25892735;26154972;26371245;26375851;26529257;26692333;26728094;26887924;27145964;27216196;27481945;27543614;27600516;27862975;27920218;27986909;28063628;28112683;28196833;28218747;28228285;28510447;28584191;28832583;28834231;29146911;29242379;29314611;29331515;29393594;29437277;29493099;29557506;29632046;29769354;29789417;30315122;30410026;30429286;30833945;31105010;31154438;31217245;31530632;31844290;31848261;31871319;32157095;32203420;32265295;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34561969;34739333;35051231;35132862;35154160;35580925;36241641;36377866;36581221;36799187;37217939;37938771;40307207;40596516;40914422;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8692836;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "ETEA may play a role in the regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients, [RefSeq, PubMed]; Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:18711132, PubMed:24215460). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). Recruits ATPase VCP to lipid droplets and also binds to phospholipase PNPLA2/ATGL, inhibiting PNPLA2 activity by promoting its dissociation from its ABHD5/CGI-58 activator (PubMed:23297223). This inhibits PNPLA2-mediated triacylglycerol hydrolysis and leads to inhibition of lipid droplet degradation (PubMed:23297223). Involved in stress granule disassembly: associates with ubiquitinated G3BP1 in response to heat shock, thereby promoting interaction between ubiquitinated G3BP1 and VCP, followed by G3BP1 extraction from stress granules and stress granule disassembly (PubMed:34739333)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of ubiquitin regulatory X domaincontaining protein 3B in the development of hepatocellular carcinoma (Review). Review article, [RefSeq, PubMed]; The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]., [RefSeq]; UBXN3B Controls Immunopathogenesis of Arthritogenic Alphaviruses by Maintaining Hematopoietic Homeostasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O94963;Q8IUF2;Q9BRP2;Q9BVM7", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0031625 ubiquitin protein ligase binding;GO:0055102 lipase inhibitor activity;GO:0035473 lipase binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex;GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway;GO:0034389 lipid droplet organization;GO:0006986 response to unfolded protein;GO:0030970 retrograde protein transport, ER to cytosol", "synthesized_glycan_count": 0, "hit_score": 24.4, "record_id": "Q96CS3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51993-1", "uniprot_id": [ { "id": "FUT6_HUMAN", "url": "https://www.uniprot.org/uniprot/P51993", "type": "external" } ], "mass": 41860.0, "length": 359, "protein_name": "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6", "gene_name": "FUT6", "organism": "Human", "refseq_name": "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6 isoform 1", "refseq_ac": [ { "id": "NP_000141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000141", "type": "external" } ], "gene_names_uniprotkb": "FUT6; FCT3A", "gene_names_refseq": "FCT3A; FT1A; FUT6; Fuc-TVI; FucT-VI", "protein_names_uniprotkb": "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6; 2.4.1.152; Fuc-TVI; FucT-VI; Fucosyltransferase 6; Fucosyltransferase VI; Galactoside 3-L-fucosyltransferase", "protein_names_refseq": "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6 isoform 1; 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6; alpha-(1,3)-fucosyltransferase 6; fucosyltransferase 6 (alpha (1,3) fucosyltransferase); fucosyltransferase VI; galactoside 3-L-fucosyltransferase", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508); fucosyltransferase 6 deficiency (MONDO:MONDO:0013462)", "pathway": " (hsa:2528); (R-HSA-9037629)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10206952;10212226;10728707;10988254;11102976;11237011;11511810;12107078;12222957;12678917;1339443;14688233;15158662;1520296;1702034;17123352;1716630;1740457;17604274;1977660;23481700;24953560;27535533;29593094;31844290;32901486;34215830;35494241;35580925;36151332;37074911;39108208;39375968;7650030;7876235;8175676;8207002;8240337;8288606;8333853;9219535;9363434;9451035;9582303", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the N-acetyl glucosamine (GlcNAc) of a distal alpha2,3 sialylated lactosamine unit of a glycoprotein- or a glycolipid-linked sialopolylactosamines chain or of a distal or internal lactosamine unit of a neutral glycoprotein- or a glycolipid-linked polylactosamines chain through an alpha-1,3 glycosidic linkage and participates in surface expression of the sialyl Lewis X (sLe(x)), Lewis X (Le(x)) and non sialylated VIM2 determinants (PubMed:10728707, PubMed:1339443, PubMed:1520296, PubMed:17604274, PubMed:29593094, PubMed:7650030, PubMed:9363434, PubMed:9451035). Moreover transfers fucose to H-type 2 (Fucalpha1-2Galbeta1-4GlcNAc) chain acceptor substrates and participates in difucosylated sialyl Lewis x determinants (PubMed:1339443, PubMed:17604274). Also fucosylates a polylactosamine substrate having a 6 sulfate modification at the GlcNAc moiety and gives rise to sialyl and non-sialyl 6-sulfo lewis X (PubMed:10728707). Does not have activity towards type 1 ((Galbeta1-3GlcNAc)) and H-type 1 chain (Fucalpha1-2Galbeta1-3GlcNAc) acceptors substrates (PubMed:1339443, PubMed:17604274, PubMed:9363434)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Correlation of FUT3 and FUT6 Gene Polymorphisms With Helicobacter pylori Infection., [RefSeq, PubMed]; Does not have alpha(1,3)-fucosyltransferase activity., [UniProtKB, PubMed]; FUT6 Suppresses the Proliferation, Migration, Invasion, and Epithelial-Mesenchymal Transition of Esophageal Carcinoma Cells via the Epidermal Growth Factor Receptor/Extracellular Signal-Regulated Kinase Signaling Pathway., [RefSeq, PubMed]; FUT6 deficiency compromises basophil function by selectively abrogating their sialyl-Lewis x expression. Publication Status: Online-Only, [RefSeq, PubMed]; FUT6 inhibits the proliferation, migration, invasion, and EGF-induced EMT of head and neck squamous cell carcinoma (HNSCC) by regulating EGFR/ERK/STAT signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Using Eukaryotic Expression Systems to Generate Human alpha1,3-Fucosyltransferases That Effectively Create Selectin-Binding Glycans on Stem Cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 521, "reported_interactions": 0, "missing_score": 9474, "biomarker_type": "", "glycan_count": 8, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NEX0;D6W637;Q9UND8", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.65", "type": "external" }, { "id": "2.4.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.152", "type": "external" } ], "go_molecular_function": "GO:0008417 fucosyltransferase activity;GO:0046920 alpha-(1->3)-fucosyltransferase activity;GO:0017083 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0006493 protein O-linked glycosylation;GO:0009101 glycoprotein biosynthetic process;GO:0006672 ceramide metabolic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 816, "hit_score": 5.6, "record_id": "P51993-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100010001.111.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFG4-1", "uniprot_id": [ { "id": "FLCN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFG4", "type": "external" } ], "mass": 64473.0, "length": 579, "protein_name": "Folliculin", "gene_name": "FLCN", "organism": "Human", "refseq_name": "folliculin isoform 2", "refseq_ac": [ { "id": "NP_653207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653207", "type": "external" } ], "gene_names_uniprotkb": "FLCN; BHD", "gene_names_refseq": "BHD; DENND8B; FLCL; FLCN", "protein_names_uniprotkb": "Folliculin; BHD skin lesion fibrofolliculoma protein; Birt-Hogg-Dube syndrome protein", "protein_names_refseq": "BHD skin lesion fibrofolliculoma protein; birt-Hogg-Dube syndrome protein; folliculin isoform 2", "tax_id": 9606, "disease": "nonpapillary renal cell carcinoma (Disease Ontology:DOID:0050387); Birt-Hogg-Dube syndrome (Disease Ontology:DOID:0050676); primary spontaneous pneumothorax (Disease Ontology:DOID:0080218); renal cell carcinoma (Disease Ontology:DOID:4450); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:201163); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 127, "publication_id_list": "11237011;12204536;12471204;12843323;14627671;15657874;15805188;15852235;15854902;15878852;16098514;17028174;17470430;17496196;18234728;18403135;18497260;18505456;18579543;18604198;18663353;18669648;18794106;19413330;19483054;19651622;19664994;19695222;19785621;19914239;20068231;20381137;21209915;21406692;21538689;22053050;22575674;22977732;22980980;23186163;23481700;23723238;23784378;23874397;23922894;24081491;24095279;24448649;24715725;25126726;25259925;25263562;25457612;25561175;25567906;25576301;25819761;25827758;26449471;26586190;26972053;26992070;27072130;27113757;27308486;27353360;27486260;27487210;27648300;27846572;28066558;28199306;28199315;28656962;28832583;28834231;29053970;29056322;29123071;29236692;29242379;29393594;29557506;29632046;29632711;29848618;30061680;30181260;30315122;30379171;30429286;30484775;30651352;30733432;31272105;31615547;31625278;31672913;31704029;31844290;31848261;31998317;32157095;32387766;32488085;32502341;32612235;32938616;32983136;33392160;33717175;34357683;34381247;34932366;35051231;35254053;35561310;35580925;36103527;36215666;36241641;37079666;37083230;37167561;37170274;37219723;7499430", "class_list": "", "function": "Clinical and genetic studies of four sporadic BHD cases and four families with a total of 23 affected subjects Erratum:[J Med Genet. 2003 Feb;40(2):150.], [RefSeq, PubMed]; Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dube syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Folliculin Prevents Lysosomal Degradation of Human Papillomavirus To Support Infectious Cell Entry., [RefSeq, PubMed]; Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis (PubMed:17028174, PubMed:18663353, PubMed:21209915, PubMed:24081491, PubMed:24095279, PubMed:31672913, PubMed:31704029, PubMed:32612235, PubMed:34381247, PubMed:36103527, PubMed:37079666). GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the non-canonical mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3 (PubMed:17028174, PubMed:18663353, PubMed:21209915, PubMed:24081491, PubMed:24095279, PubMed:24448649, PubMed:31672913, PubMed:31704029, PubMed:32612235, PubMed:36103527, PubMed:37079666). Activates mTORC1 by acting as a GTPase-activating protein: specifically stimulates GTP hydrolysis by RagC/RRAGC or RagD/RRAGD, promoting the conversion to the GDP-bound state of RagC/RRAGC or RagD/RRAGD, and thereby activating the kinase activity of mTORC1 (PubMed:24095279, PubMed:31672913, PubMed:31704029, PubMed:32612235, PubMed:37079666). The GTPase-activating activity is inhibited during starvation and activated in presence of nutrients (PubMed:31672913, PubMed:32612235). Acts as a key component for non-canonical mTORC1-dependent control of the MiT/TFE factors TFEB and TFE3, while it is not involved in mTORC1-dependent phosphorylation of canonical RPS6KB1/S6K1 and EIF4EBP1/4E-BP1 (PubMed:21209915, PubMed:24081491, PubMed:31672913, PubMed:32612235). In low-amino acid conditions, the lysosomal folliculin complex (LFC) is formed on the membrane of lysosomes, which inhibits the GTPase-activating activity of FLCN, inactivates mTORC1 and maximizes nuclear translocation of TFEB and TFE3 (PubMed:31672913). Upon amino acid restimulation, RagA/RRAGA (or RagB/RRAGB) nucleotide exchange promotes disassembly of the LFC complex and liberates the GTPase-activating activity of FLCN, leading to activation of mTORC1 and subsequent cytoplasmic retention of TFEB and TFE3 (PubMed:31672913). Indirectly acts as a positive regulator of Wnt signaling by promoting mTOR-dependent cytoplasmic retention of MiT/TFE factor TFE3 (PubMed:31272105). Required for the exit of hematopoietic stem cell from pluripotency by promoting mTOR-dependent cytoplasmic retention of TFE3, thereby increasing Wnt signaling (PubMed:30733432). Acts as an inhibitor of browning of adipose tissue by regulating mTOR-dependent cytoplasmic retention of TFE3 (By similarity). Involved in the control of embryonic stem cells differentiation; together with LAMTOR1 it is necessary to recruit and activate RagC/RRAGC and RagD/RRAGD at the lysosomes, and to induce exit of embryonic stem cells from pluripotency via non-canonical, mTOR-independent TFE3 inactivation (By similarity). In response to flow stress, regulates STK11/LKB1 accumulation and mTORC1 activation through primary cilia: may act by recruiting STK11/LKB1 to primary cilia for activation of AMPK resided at basal bodies, causing mTORC1 down-regulation (PubMed:27072130). Together with FNIP1 and/or FNIP2, regulates autophagy: following phosphorylation by ULK1, interacts with GABARAP and promotes autophagy (PubMed:25126726). Required for starvation-induced perinuclear clustering of lysosomes by promoting association of RILP with its effector RAB34 (PubMed:27113757). Regulates glycolysis by binding to lactate dehydrogenase LDHA, acting as an uncompetitive inhibitor (PubMed:34381247)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutations lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome, [RefSeq, PubMed]; Progress in Adrenal Cortical Neoplasms: From Predictive Histomorphology to FLCN-Driven Germline Pathogenesis and the Prognostic Performance of Multiparameter Scoring Systems in Pediatric Adrenal Cortical Neoplasms., [RefSeq, PubMed]; Role of FLCN Phosphorylation in Insulin-Mediated mTORC1 Activation and Tumorigenesis., [RefSeq, PubMed]; This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NJJ8;Q6ZRX1;Q96BD2;Q96BE4", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0005096 GTPase activator activity;GO:0019899 enzyme binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:1901874 negative regulation of post-translational protein modification;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001701 in utero embryonic development;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q8NFG4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99518-1", "uniprot_id": [ { "id": "FMO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99518", "type": "external" } ], "mass": 60907.0, "length": 535, "protein_name": "Flavin-containing monooxygenase 2", "gene_name": "FMO2", "organism": "Human", "refseq_name": "flavin-containing monooxygenase 2 isoform a", "refseq_ac": [ { "id": "NP_001451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001451", "type": "external" } ], "gene_names_uniprotkb": "FMO2", "gene_names_refseq": "FMO1B1; FMO2", "protein_names_uniprotkb": "Flavin-containing monooxygenase 2; 1.14.13.-; Dimethylaniline oxidase 2; FMO 1B1; FMO 2; Pulmonary flavin-containing monooxygenase 2", "protein_names_refseq": "FMO, pulmonary; dimethylaniline monooxygenase [N-oxide-forming] 2; dimethylaniline oxidase 2; flavin containing monooxygenase 2 (non-functional); flavin-containing monooxygenase 2 isoform a; pulmonary flavin-containing monooxygenase 2", "tax_id": 9606, "disease": "congenital adrenal hyperplasia (Disease Ontology:DOID:0050811); chromosome 1q21.1 deletion syndrome (Disease Ontology:DOID:0060411); polycystic ovary syndrome (Disease Ontology:DOID:11612); hypothyroidism (Disease Ontology:DOID:1459); hypogonadism (Disease Ontology:DOID:1924); nephrosis (Disease Ontology:DOID:2527); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2327); (R-HSA-217271)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11042094;11237011;11744609;12527699;15144220;15294458;15987777;18794725;18930751;18948378;20388717;23563705;29557506;29786170;30381441;31217245;31848261;32157095;35051231;36114029;36215666;37800598;37938771;37963835;4195988;5048998;9536088;9804831", "class_list": "", "function": "Cancer-associated fibroblasts-derived FMO2 as a biomarker of macrophage infiltration and prognosis in epithelial ovarian cancer., [RefSeq, PubMed]; Catalyzes the oxidative metabolism of numerous xenobiotics, including mainly therapeutic drugs and insecticides that contain a soft nucleophile, most commonly nitrogen and sulfur and participates to their bioactivation (PubMed:15144220, PubMed:15294458, PubMed:18930751, PubMed:18948378, PubMed:9804831). Specifically catalyzes S-oxygenation of sulfur derived compounds such as thioureas-derived compounds, thioetherorganophosphates to their sulfenic acid (PubMed:15144220, PubMed:9804831). In vitro, catalyzes S-oxygenation of the second-line antitubercular drugs thiacetazone (TAZ) and ethionamide (ETA), forming a sulfinic acid and a carbodiimide via a postulated sulfenic acid intermediate (PubMed:18930751, PubMed:18948378). Also catalyzes S-oxygenation of the thioether-containing organophosphate insecticides, phorate and disulfoton (PubMed:15294458)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Discovery and identification of the prognostic significance and potential mechanism of FMO2 in breast cancer., [RefSeq, PubMed]; Flavin containing monooxygenase 2 regulates renal tubular cell fibrosis and paracrine secretion via SMURF2 in AKI-CKD transformation., [RefSeq, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; The functional FMO2(427Q) isoform was active against nicotine; the truncated FMO2(Q472stop) isoform exhibited no enzyme activity., [RefSeq, PubMed]; This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5EBX4;Q86U73;Q9BRX1", "ec_number_list": [ { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" } ], "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0050661 NADP binding;GO:0004499 N,N-dimethylaniline monooxygenase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006739 NADP+ metabolic process;GO:0006805 xenobiotic metabolic process;GO:0009404 toxin metabolic process;GO:0006082 organic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q99518-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14802-1", "uniprot_id": [ { "id": "FXYD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14802", "type": "external" } ], "mass": 9263.0, "length": 87, "protein_name": "FXYD domain-containing ion transport regulator 3", "gene_name": "FXYD3", "organism": "Human", "refseq_name": "FXYD domain-containing ion transport regulator 3 isoform 3", "refseq_ac": [ { "id": "NP_001129479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129479", "type": "external" } ], "gene_names_uniprotkb": "FXYD3; MAT8; PLML", "gene_names_refseq": "FXYD3; MAT8; PLML", "protein_names_uniprotkb": "FXYD domain-containing ion transport regulator 3; Chloride conductance inducer protein Mat-8; Mammary tumor 8 kDa protein; Phospholemman-like; Sodium/potassium-transporting ATPase subunit FXYD3", "protein_names_refseq": "FXYD domain-containing ion transport regulator 3 isoform 3; chloride conductance inducer protein Mat-8; mammary tumor 8 kDa protein; phospholemman-like protein; sodium/potassium-transporting ATPase subunit FXYD3", "tax_id": 9606, "disease": "", "pathway": " (hsa:5349); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 99, "publication_id_list": "10087012;10220561;10401004;10484781;10615129;10767338;10913253;11062458;11237011;11904675;12119109;12535606;12832055;12953268;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16115318;16182249;16522641;1656976;16700898;16754674;1693919;17077088;17224452;17357072;17486119;17662961;18723824;18995841;19278978;19345671;19751721;19878721;20223979;20388710;21108950;21454534;2160952;22186024;22210847;2226863;22401777;22427649;22552008;22707725;22814904;22972900;23196729;23362265;23549614;23610579;23641311;24272870;2430951;24392018;24584101;2477373;2559024;25801024;25994790;26002965;27067231;2838329;28425720;28645727;2953725;29557506;29789417;29945920;30201761;31048504;31844290;32157095;32737405;35580925;35993520;36693922;37966117;6328127;6832622;7626145;7702581;7836447;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285", "class_list": "", "function": "Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell (PubMed:17077088). Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1 (PubMed:21454534). Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes (PubMed:7836447)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Control of protein palmitoylation by regulating substrate recruitment to a zDHHC-protein acyltransferase. Publication Status: Online-Only, [RefSeq, PubMed]; Decreases the apparent K+ affinity of the sodium/potassium-transporting ATPase only at slightly negative and positive membrane potentials and increases the apparent Na+ affinity over a large range of membrane potentials., [UniProtKB, PubMed]; Decreases the apparent K+ and Na+ affinity of the sodium/potassium-transporting ATPase over a large range of membrane potentials., [UniProtKB, PubMed]; FXYD3 enhances IL-17A signaling to promote psoriasis by competitively binding TRAF3 in keratinocytes., [RefSeq, PubMed]; FXYD3 facilitates Na(+) and liquid absorption across human airway epithelia by increasing the transport capacity of the Na/K ATPase., [RefSeq, PubMed]; FXYD3 functionally demarcates an ancestral breast cancer stem cell subpopulation with features of drug-tolerant persisters. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular cloning, protein expression, sequencing and NMR structure determination, [RefSeq, PubMed]; This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NDE0;C9JDU2;F5H174;F8WB34;Q13211;Q6IB59", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding;GO:0017080 sodium channel regulator activity;GO:0005254 chloride channel activity;GO:0099106 ion channel regulator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006883 intracellular sodium ion homeostasis;GO:0006821 chloride transport;GO:0010248 establishment or maintenance of transmembrane electrochemical gradient;GO:0030007 intracellular potassium ion homeostasis;GO:0036376 sodium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q14802-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QU4-1", "uniprot_id": [ { "id": "FRG2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QU4", "type": "external" } ], "mass": 30564.0, "length": 278, "protein_name": "Protein FRG2-like-1", "gene_name": "FRG2B", "organism": "Human", "refseq_name": "protein FRG2-like-1", "refseq_ac": [ { "id": "NP_001074467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074467", "type": "external" } ], "gene_names_uniprotkb": "FRG2B", "gene_names_refseq": "FRG2B", "protein_names_uniprotkb": "Protein FRG2-like-1; FSHD region gene 2 protein family member B; HSA10-FRG2", "protein_names_refseq": "FSHD region gene 2 protein family member B; HSA10-FRG2; protein FRG2-like-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:441581)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;11829491;15520407", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VSQ1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96QU4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BQ1-1", "uniprot_id": [ { "id": "FAM3D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BQ1", "type": "external" } ], "mass": 24963.0, "length": 224, "protein_name": "Protein FAM3D", "gene_name": "FAM3D", "organism": "Human", "refseq_name": "protein FAM3D precursor", "refseq_ac": [ { "id": "NP_620160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620160", "type": "external" } ], "gene_names_uniprotkb": "FAM3D; PRO1130", "gene_names_refseq": "EF7; FAM3D; OIT1", "protein_names_uniprotkb": "Protein FAM3D", "protein_names_refseq": "Oncoprotein-induced transcript 1; cytokine-like protein EF-7; family with sequence similarity 3 member D; protein FAM3D precursor; protein FAM3D", "tax_id": 9606, "disease": "", "pathway": " (hsa:131177)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12160727;12975309;16740002;20677014;28411811;29557506;29741879;29789417;35251023;37301198;37454871;39388305", "class_list": "", "function": "A cytokine-like protein found in placenta, [RefSeq, PubMed]; DNA methylation-driven gene FAM3D promotes colorectal cancer growth via the ATF4-SESN2-mTORC1 pathway., [RefSeq, PubMed]; Hepatocyte-secreted FAM3D ameliorates hepatic steatosis by activating FPR1-hnRNP U-GR-SCAD pathway to enhance lipid oxidation., [RefSeq, PubMed]; Statistical analysis indicated that six genes, NFATC2, SCP2, CACNA1C, TCRA, POLE, and FAM3D, were associated with narcolepsy. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Targeting cytokine-like protein FAM3D lowers blood pressure in hypertension., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q547G2", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007165 signal transduction;GO:0046676 negative regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q96BQ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60749-1", "uniprot_id": [ { "id": "SNX2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60749", "type": "external" } ], "mass": 58471.0, "length": 519, "protein_name": "Sorting nexin-2", "gene_name": "SNX2", "organism": "Human", "refseq_name": "sorting nexin-2 isoform 2", "refseq_ac": [ { "id": "NP_001265128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128", "type": "external" } ], "gene_names_uniprotkb": "SNX2; TRG9", "gene_names_refseq": "SNX2; TRG-9", "protein_names_uniprotkb": "Sorting nexin-2; TRG-9; Transformation-related gene 9 protein", "protein_names_refseq": "CTB-36H16.2; sorting nexin-2 isoform 2; transformation-related gene 9 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6643); (R-HSA-432722)", "pathway_count": 2, "publication_count": 113, "publication_id_list": "10394364;11102511;11237011;11438682;11590181;11604418;11694590;11994746;14596906;15102850;15302935;16155256;16179610;16964243;17101778;17116749;18088323;18212344;18452278;18669648;19608861;19619496;19651622;19664994;19816406;19935774;20058876;20068231;20112406;20138391;20166139;20230923;20604901;22028470;23085988;23186163;23481700;24275569;24715725;25418920;25502872;25576301;25810538;25880248;26154972;26992070;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28855257;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;32994321;33043033;33141586;33298915;33592498;33936100;33968037;34019948;34105348;34211107;34229054;34357683;34433824;34509645;34817777;35051231;35561310;35580925;36010968;36284347;37938771;38836326;39073202;40914422;8374173;8524399;8670264;9819414", "class_list": "", "function": "Host Retromer Protein Sorting Nexin 2 Interacts with Human Respiratory Syncytial Virus Structural Proteins and is Required for Efficient Viral Production. Publication Status: Online-Only, [RefSeq, PubMed]; Human sorting nexin 2 protein interacts with Influenza A virus PA protein and has a negative regulatory effect on the virus replication., [RefSeq, PubMed]; Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:16179610). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex (PubMed:17101778). The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Can sense membrane curvature and has in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Required for retrograde endosome-to-TGN transport of TGN38 (PubMed:20138391). Promotes KALRN- and RHOG-dependent but retromer-independent membrane remodeling such as lamellipodium formation; the function is dependent on GEF activity of KALRN (PubMed:20604901)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Spatiotemporal regulation of the hepatocyte growth factor receptor MET activity by sorting nexins 1/2 in HCT116 colorectal cancer cells., [RefSeq, PubMed]; This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KN44;B4DEK4;B7Z408;O43650;P82862;Q53XK8;Q597H6;Q9BTS8", "ec_number_list": [], "go_molecular_function": "GO:0005158 insulin receptor binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0030027 lamellipodium", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0072673 lamellipodium morphogenesis;GO:0042147 retrograde transport, endosome to Golgi;GO:0034498 early endosome to Golgi transport", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "O60749-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01167-1", "uniprot_id": [ { "id": "FOXK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01167", "type": "external" } ], "mass": 69062.0, "length": 660, "protein_name": "Forkhead box protein K2", "gene_name": "FOXK2", "organism": "Human", "refseq_name": "forkhead box protein K2", "refseq_ac": [ { "id": "NP_004505", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004505", "type": "external" } ], "gene_names_uniprotkb": "FOXK2; ILF1; ILF", "gene_names_refseq": "FOXK2; ILF-1; ILF1; ILF; nGTBP", "protein_names_uniprotkb": "Forkhead box protein K2; G/T-mismatch specific binding protein; Interleukin enhancer-binding factor 1; nGTBP", "protein_names_refseq": "FOXK1; G/T-mismatch specific binding protein; cellular transcription factor ILF-1; forkhead box protein K2; interleukin enhancer-binding factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3607); (R-HSA-5689603)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12402362;1339390;16624804;16906146;17139257;17322306;17525332;18220336;18452278;18497827;18669648;18767875;1909027;19188440;19413330;19651622;19664994;19664995;19690332;19815555;20058876;20068231;20097901;20436459;20805357;20810654;21406692;21654843;22009320;22083952;23186163;23301498;24129315;24275569;24634419;24714562;24748658;25218447;2530630;25451922;25576301;25645385;25805136;26375851;26992070;27543614;27862975;28228285;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29351928;29508533;29540677;29557506;29632711;30059200;30379171;30429286;30620550;30664650;31092671;31373491;31492838;31844290;32119511;32157095;32265295;32357974;32387766;32502341;32938616;32938750;32983136;33214551;33298915;33392160;33592498;33717175;33912179;33968037;34019948;34087483;34509645;34561969;34846842;35051231;35132862;35138101;35254053;35289036;35513511;35580925;35705054;36010968;36922872;37340703;37356282;38665916;38735474;38901667;39531497;39534244;40307207;40596516;40681752;9528852;9790970", "class_list": "", "function": "CircFOXK2 promotes hepatocellular carcinoma progression and leads to a poor clinical prognosis via regulating the Warburg effect. Publication Status: Online-Only, [RefSeq, PubMed]; FOXK2 amplification promotes breast cancer development and chemoresistance., [RefSeq, PubMed]; FOXK2 regulates PFKFB3 in promoting glycolysis and tumorigenesis in multiple myeloma., [RefSeq, PubMed]; FOXK2 targeting by the SCF-E3 ligase subunit FBXO24 for ubiquitin mediated degradation modulates mitochondrial respiration., [RefSeq, PubMed]; The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulator involved in different processes such as glucose metabolism, aerobic glycolysis and autophagy (PubMed:38735474). Recognizes and binds the forkhead DNA sequence motif (5'-GTAAACA-3') and can both act as a transcription activator or repressor, depending on the context (PubMed:22083952, PubMed:25451922). Together with FOXK1, acts as a key regulator of metabolic reprogramming towards aerobic glycolysis, a process in which glucose is converted to lactate in the presence of oxygen (By similarity). Acts by promoting expression of enzymes for glycolysis (such as hexokinase-2 (HK2), phosphofructokinase, pyruvate kinase (PKLR) and lactate dehydrogenase), while suppressing further oxidation of pyruvate in the mitochondria by up-regulating pyruvate dehydrogenase kinases PDK1 and PDK4 (By similarity). Probably plays a role in gluconeogenesis during overnight fasting, when lactate from white adipose tissue and muscle is the main substrate (By similarity). Together with FOXK1, acts as a negative regulator of autophagy in skeletal muscle: in response to starvation, enters the nucleus, binds the promoters of autophagy genes and represses their expression, preventing proteolysis of skeletal muscle proteins (By similarity). In addition to the 5'-GTAAACA-3' DNA motif, also binds the 5'-TGANTCA-3' palindromic DNA motif, and co-associates with JUN/AP-1 to activate transcription (PubMed:22083952). Also able to bind to a minimal DNA heteroduplex containing a G/T-mismatch with 5'-TRT[G/T]NB-3' sequence (PubMed:20097901). Binds to NFAT-like motifs (purine-rich) in the IL2 promoter (PubMed:1339390). Positively regulates WNT/beta-catenin signaling by translocating DVL proteins into the nucleus (PubMed:25805136). Also binds to HIV-1 long terminal repeat. May be involved in both positive and negative regulation of important viral and cellular promoter elements (PubMed:1909027). Accessory component of the polycomb repressive deubiquitinase (PR-DUB) complex; recruits the PR-DUB complex to specific FOXK2-bound genes (PubMed:24634419, PubMed:30664650)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 32, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6NEP5;Q13622;Q13623;Q13624", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003700 DNA-binding transcription factor activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0042594 response to starvation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q01167-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKT7-1", "uniprot_id": [ { "id": "FBXL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKT7", "type": "external" } ], "mass": 48707.0, "length": 428, "protein_name": "F-box/LRR-repeat protein 3", "gene_name": "FBXL3", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 3", "refseq_ac": [ { "id": "NP_036290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036290", "type": "external" } ], "gene_names_uniprotkb": "FBXL3; FBL3A; FBXL3A", "gene_names_refseq": "FBL3A; FBL3; FBXL3A; FBXL3; IDDSFAS", "protein_names_uniprotkb": "F-box/LRR-repeat protein 3; F-box and leucine-rich repeat protein 3A; F-box/LRR-repeat protein 3A", "protein_names_refseq": "F-box and leucine-rich repeat protein 3A; F-box protein Fbl3a; F-box/LRR-repeat protein 3A; F-box/LRR-repeat protein 3", "tax_id": 9606, "disease": "intellectual disability, short stature, facial anomalies, and joint dislocations (MONDO:MONDO:0011651)", "pathway": " (hsa:26224); (R-HSA-390471); (R-HSA-8951664); (R-HSA-983168); (R-HSA-9932298)", "pathway_count": 5, "publication_count": 214, "publication_id_list": "10531035;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12502735;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15917222;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17463251;17497243;17785452;18093314;18206966;18662542;18775313;18775504;18776931;18805092;18826954;18851830;18926707;18991276;19011634;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21098288;21447816;21463634;21778237;21863050;21872626;21940857;21993680;21995946;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23452855;23452856;23453757;23481700;23535662;23535663;23563313;23583660;23747015;23783831;23912815;23986495;24076655;24366543;24636985;24714562;24715725;24756126;24793695;24793696;25314029;25342745;25349211;25355947;25467444;25502872;25531226;25576301;25645385;26154972;26344709;26375851;26460955;26632597;26728094;26906416;26992070;27030794;27222660;27543614;27565346;27862975;28115426;28218747;28228285;28832583;28834231;28904123;29153394;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30481285;30524438;30594330;30610225;30833945;31154438;31222486;31844290;31848261;32005965;32157095;32161166;32284348;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33444648;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;36581221;37938771;39051074;9380723;9668046;9790970;9819444;9887101;9891082", "class_list": "", "function": "FBXL3 was regulated by miR-4735-3p and suppressed cell proliferation and invasion in non-small cell lung cancer., [RefSeq, PubMed]; Study demonstrates that the SCF(Fbxl3)ubiquitin ligase controls the oscillations of the circadian clock by mediating the degradation of Cry1 and Cry2 proteins Erratum:[Science. 2024 May 24;384(6698):eadq4777. doi: 10.1126/science.adq4777. PMID: 38781400], [RefSeq, PubMed]; Substrate-recognition component of the SCF(FBXL3) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation (PubMed:17463251, PubMed:23452855, PubMed:27565346). The SCF(FBXL3) complex mainly acts in the nucleus and mediates ubiquitination and subsequent degradation of CRY1 and CRY2 (PubMed:17463251, PubMed:23452855, PubMed:27565346). Activity of the SCF(FBXL3) complex is counteracted by the SCF(FBXL21) complex (PubMed:23452855)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]., [RefSeq]; We conclude that homozygous FBXL3 LoF variants likely cause autosomal recessive ID, short stature, developmental delay and facial dysmorphism in humans, and that the Cys358Arg FBXL3 variant likely adds the circadian phenotype because of abnormal interaction with CRY1 and CRY2, [RefSeq, PubMed]; [Tumor-associated fibroblasts promotes proliferation and migration of prostate cancer cells by suppressing FBXL3 via upregulating hsa-miR-18b-5p]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RB04;Q9P122", "ec_number_list": [], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0019005 SCF ubiquitin ligase complex;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0042752 regulation of circadian rhythm;GO:0048511 rhythmic process;GO:0031648 protein destabilization;GO:0043153 entrainment of circadian clock by photoperiod", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "Q9UKT7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EF6-1", "uniprot_id": [ { "id": "FBX17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EF6", "type": "external" } ], "mass": 31479.0, "length": 278, "protein_name": "F-box only protein 17", "gene_name": "FBXO17", "organism": "Human", "refseq_name": "F-box only protein 17 isoform 2", "refseq_ac": [ { "id": "NP_079183", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079183", "type": "external" } ], "gene_names_uniprotkb": "FBXO17; FBG4; FBX17; FBX26; FBXO26", "gene_names_refseq": "FBG4; FBX26; FBXO17; FBXO26; Fbx17", "protein_names_uniprotkb": "F-box only protein 17; F-box only protein 26", "protein_names_refseq": "F-box only protein 17 isoform 2; F-box only protein 26; F-box protein FBG4", "tax_id": 9606, "disease": "", "pathway": " (hsa:115290); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 145, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12383498;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17672918;17785452;18093314;18203720;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;29153394;29557506;30429286;30610225;32005965;32157095;32284348;32488085;32938616;33444648;33592498;33968037;34702278;34932366;35044455;35051231;35357059;36035375;36284347;9380723;9668046;9790970;9887101;9891082", "class_list": "glycogene", "function": "Circ_0008717 promotes renal cell carcinoma progression by upregulating FBXO17 via targeting miR-217., [RefSeq, PubMed]; F-box protein 17 promotes glioma progression by regulating glycolysis pathway., [RefSeq, PubMed]; FBXO17 Inhibits the Wnt/beta-Catenin Pathway and Proliferation of Ishikawa Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and validation of an immune-associated RNA-binding proteins signature to predict clinical outcomes and therapeutic responses in colon cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides. Also recognizes sulfated glycans. Does not bind high-mannose glycoproteins., [UniProtKB]; The apparent occurrence of an unusual TG 3' splice site in intron 3 is discussed, [RefSeq, PubMed]; This gene encodes a member of the F-box protein family which is characterized by the F-box motif. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 409, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96LQ4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0036503 ERAD pathway;GO:0006516 glycoprotein catabolic process;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q96EF6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6M3-1", "uniprot_id": [ { "id": "FITM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6M3", "type": "external" } ], "mass": 29855.0, "length": 262, "protein_name": "Acyl-coenzyme A diphosphatase FITM2", "gene_name": "FITM2", "organism": "Human", "refseq_name": "acyl-coenzyme A diphosphatase FITM2", "refseq_ac": [ { "id": "NP_001073941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073941", "type": "external" } ], "gene_names_uniprotkb": "FITM2; C20orf142; FIT2", "gene_names_refseq": "C20orf142; FITM2; Fit2; SIDDIS; dJ881L22.2", "protein_names_uniprotkb": "Acyl-coenzyme A diphosphatase FITM2; 3.6.1.-; Fat storage-inducing transmembrane protein 2; Fat-inducing protein 2", "protein_names_refseq": "acyl-coenzyme A diphosphatase FITM2; fat-inducing protein 2; fat-inducing transcript 2", "tax_id": 9606, "disease": "Siddiqi syndrome (Disease Ontology:DOID:0081273); lipid metabolism disorder (Disease Ontology:DOID:3146)", "pathway": " (hsa:128486); (R-HSA-8964572)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "17311113;18160536;19843876;20624928;21834987;22106267;24519944;25028495;25418920;26322308;26515554;26992070;27397612;28067622;28834231;29557506;30020828;30214770;30288795;30315122;31154438;31844290;31848261;32157095;32915949;32938616;33392160;33861319;34087483;34672358", "class_list": "", "function": "FIT2 is an acyl-coenzyme A diphosphatase crucial for endoplasmic reticulum homeostasis., [RefSeq, PubMed]; FIT2 organizes lipid droplet biogenesis with ER tubule-forming proteins and septins., [RefSeq, PubMed]; Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4'-phosphopantetheine and adenosine 3',5'-bisphosphate (By similarity) (PubMed:32915949). Preferentially hydrolyzes unsaturated long-chain acyl-CoA substrates such as oleoyl-CoA/(9Z)-octadecenoyl-CoA and arachidonoyl-CoA/(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA in the endoplasmic reticulum (ER) lumen (By similarity) (PubMed:32915949). This catalytic activity is required for maintaining ER structure and for lipid droplets (LDs) biogenesis, which are lipid storage organelles involved in maintaining lipid and energy homeostasis (By similarity) (PubMed:18160536, PubMed:32915949). Directly binds to diacylglycerol (DAGs) and triacylglycerol, which is also important for LD biogenesis (By similarity). May support directional budding of nacent LDs from the ER into the cytosol by reducing DAG levels at sites of LD formation (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987)., [UniProtKB, PubMed, PubMed, HAMAP, PubMed]; High FITM2 expression promotes cell migration ability of hepatocellular carcinoma by regulating the formation of caveolae and indicates poor patient survival., [RefSeq, PubMed]; In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference., [RefSeq, PubMed]; Low FIT2 expression is associated with type 2 diabetes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L492;B9EGQ4;Q5TE59;Q9H3Y1", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" } ], "go_molecular_function": "GO:0017129 triglyceride binding;GO:0019992 diacylglycerol binding;GO:0010945 coenzyme A diphosphatase activity;GO:0170007 endoplasmic reticulum-lipid droplet tether activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006641 triglyceride metabolic process;GO:0055088 lipid homeostasis;GO:0045444 fat cell differentiation;GO:0019915 lipid storage;GO:0034389 lipid droplet organization", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8N6M3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8J7-1", "uniprot_id": [ { "id": "F241A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8J7", "type": "external" } ], "mass": 14653.0, "length": 132, "protein_name": "Uncharacterized protein FAM241A", "gene_name": "FAM241A", "organism": "Human", "refseq_name": "uncharacterized protein FAM241A", "refseq_ac": [ { "id": "NP_689613", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689613", "type": "external" } ], "gene_names_uniprotkb": "FAM241A; C4orf32", "gene_names_refseq": "C4orf32; FAM241A", "protein_names_uniprotkb": "Uncharacterized protein FAM241A", "protein_names_refseq": "uncharacterized protein C4orf32; uncharacterized protein FAM241A", "tax_id": 9606, "disease": "", "pathway": " (hsa:132720)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "18437351;18691976;19380854;19415658;20332099;23349771;28510447;29557506;31154438", "class_list": "", "function": "Data indicate associations of SNPs in eight loci CXCR4, HHEX, FOXA2, NGN3, TCF7L2, FLJ39370 (C4orf32), LOC646279 (RPL21P7) and THADA with body mass index (BMI) and weight., [RefSeq, PubMed]; Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q49A91;Q4W5C7;Q8TBF9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N8J7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEG4-1", "uniprot_id": [ { "id": "FA83F_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEG4", "type": "external" } ], "mass": 55486.0, "length": 500, "protein_name": "Protein FAM83F", "gene_name": "FAM83F", "organism": "Human", "refseq_name": "protein FAM83F", "refseq_ac": [ { "id": "NP_612444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612444", "type": "external" } ], "gene_names_uniprotkb": "FAM83F", "gene_names_refseq": "FAM83F; SACK1F", "protein_names_uniprotkb": "Protein FAM83F", "protein_names_refseq": "family with sequence similarity 83 member F; protein FAM83F", "tax_id": 9606, "disease": "", "pathway": " (hsa:113828)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "16959974;19834535;21406692;29786170;29789297;30280778;30556880;30692643;31595558;32387766;32983136;33361109;33560141;35051231", "class_list": "", "function": "Circ_0000735 enhances the proliferation, metastasis and glycolysis of non-small cell lung cancer by regulating the miR-635/FAM83F axis., [RefSeq, PubMed]; FAM83F regulates canonical Wnt signalling through an interaction with CK1alpha. Publication Status: Online-Only, [RefSeq, PubMed]; Fam83F induces p53 stabilisation and promotes its activity., [RefSeq, PubMed]; Low MiR-650 expression in glioma cells promotes tumor cell proliferation by up-regulating the expression of FAM83F., [RefSeq, PubMed]; MiR-1827 functions as a tumor suppressor in lung adenocarcinoma by targeting MYC and FAM83F., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results show that FAM83F expression was distinctly upregulated in non-small cell lung cancer (NSCLC) tissues. MiR-940 inhibited the proliferation of cancer cells by targeting FAM83F and further restrained the progression of NSCLC., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96FD6", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8NEG4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFZ0-1", "uniprot_id": [ { "id": "FBH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFZ0", "type": "external" } ], "mass": 117686.0, "length": 1043, "protein_name": "F-box DNA helicase 1", "gene_name": "FBH1", "organism": "Human", "refseq_name": "F-box DNA helicase 1 isoform 3", "refseq_ac": [ { "id": "NP_001245381", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245381", "type": "external" } ], "gene_names_uniprotkb": "FBH1; FBX18; FBXO18", "gene_names_refseq": "FBH1; FBXO18; Fbx18; hFBH1", "protein_names_uniprotkb": "F-box DNA helicase 1; 5.6.2.4; DNA 3'-5' helicase 1; F-box only protein 18; hFBH1", "protein_names_refseq": "DNA 3'-5' helicase 1; F-box DNA helicase 1 isoform 3; F-box only protein, helicase, 18; F-box protein, helicase, 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:84893)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11237011;11956208;16385451;17724085;18452278;19736316;23186163;23319600;23361013;23393192;23466708;23481700;23677613;24397554;24715725;25418920;25469497;25576301;25585578;25645385;25772361;26375851;26811146;26929215;26992070;27846572;27893789;27920218;28063628;28218747;28228285;28411811;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29467415;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30484775;31217245;31844290;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;34171305;34405274;34509645;34932366;35051231;35251023;35580925;36241641;36284347;36990095;37938771;38103522", "class_list": "", "function": "3'-5' DNA helicase and substrate-recognition component of the SCF(FBH1) E3 ubiquitin ligase complex that plays a key role in response to stalled/damaged replication forks (PubMed:11956208, PubMed:23393192). Involved in genome maintenance by acting as an anti-recombinogenic helicase and preventing extensive strand exchange during homologous recombination: promotes RAD51 filament dissolution from stalled forks, thereby inhibiting homologous recombination and preventing excessive recombination (PubMed:17724085, PubMed:19736316). Also promotes cell death and DNA double-strand breakage in response to replication stress: together with MUS81, promotes the endonucleolytic DNA cleavage following prolonged replication stress via its helicase activity, possibly to eliminate cells with excessive replication stress (PubMed:23319600, PubMed:23361013). Plays a major role in remodeling of stalled DNA forks by catalyzing fork regression, in which the fork reverses and the two nascent DNA strands anneal (PubMed:25772361). In addition to the helicase activity, also acts as the substrate-recognition component of the SCF(FBH1) E3 ubiquitin ligase complex, a complex that mediates ubiquitination of RAD51, leading to regulate RAD51 subcellular location (PubMed:25585578)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; FBH1 deficiency sensitizes cells to WEE1 inhibition by promoting mitotic catastrophe., [RefSeq, PubMed]; HFBH1 exhibited DNA-dependent ATPase and DNA unwinding activities that displace duplex DNA in the 3' to 5' direction., [RefSeq, PubMed]; Molecular insight into the PCNA-binding mode of FBH1., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Report a requirement for PARP2 in stabilizing replication forks that encounter base excision repair (BER) intermediates through Fbh1-dependent regulation of Rad51. Whereas PARP2 is dispensable for tolerance of cells to single stranded breaks or homologous recombination dysfunction, it is redundant with PARP1 in BER. Publication Status: Online-Only, [RefSeq, PubMed]; These findings suggest that the hFBH1 helicase is a functional human orthologue of budding yeast Srs2 that also possesses self-regulation properties necessary to execute its recombination functions., [RefSeq, PubMed]; This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JVB0;Q5JVB1;Q7Z4Q6;Q7Z4R0;Q8N1P5;Q8N586;Q96E82;Q96K67;Q96SW7;Q9UFB2", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0043138 3'-5' DNA helicase activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003690 double-stranded DNA binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0019005 SCF ubiquitin ligase complex;GO:0000785 chromatin;GO:0005694 chromosome", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:0001934 positive regulation of protein phosphorylation;GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q8NFZ0-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDW7-3", "uniprot_id": [ { "id": "FAT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDW7", "type": "external" } ], "mass": 501978.0, "length": 4557, "protein_name": "Protocadherin Fat 3", "gene_name": "FAT3", "organism": "Human", "refseq_name": "protocadherin Fat 3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001008781", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008781", "type": "external" } ], "gene_names_uniprotkb": "FAT3; CDHF15; KIAA1989", "gene_names_refseq": "CDHF15; CDHR10; FAT3; hFat3", "protein_names_uniprotkb": "Protocadherin Fat 3; Cadherin family member 15; FAT tumor suppressor homolog 3; hFat3", "protein_names_refseq": "FAT tumor suppressor homolog 3; cadherin family member 15; cadherin-related family member 10; protocadherin Fat 3 isoform 2 precursor; protocadherin Fat 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:120114)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;11811999;16865240;20068231;24190977;27788242;29393594;29493099;29557506;29632711;31844290;32387766;33592498;33981976;34171305;34647573;35069585;35108541;35580925;35853984;38696842", "class_list": "", "function": "A circular RNA derived from FAT atypical cadherin 3 promotes lung cancer progression via forming a regulatory loop with oncogenic ELAV like RNA binding protein 1., [RefSeq, PubMed]; Antitumor immunity and prognosis value elicited by FAT3 and LRP1B co-mutation in endometrial cancer., [RefSeq, PubMed]; Co-Mutation of FAT3 and LRP1B in Lung Adenocarcinoma Defines a Unique Subset Correlated With the Efficacy of Immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Fat3 acts through independent cytoskeletal effectors to coordinate asymmetric cell behaviors during polarized circuit assembly., [RefSeq, PubMed]; For Fat3, the Kif5-ID is regulated by alternative splicing, and the timecourse of splicing suggests that the distribution of Fat3 may switch between early and later stages of retinal development. In contrast, P75NTR binding to Kif5B is enhanced by tyrosine phosphorylation and thus has the potential to be dynamically regulated on a more rapid time scale Publication Status: Online-Only, [RefSeq, PubMed]; Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in the interactions between neurites derived from specific subsets of neurons during development., [UniProtKB]", "predicted_glycosites": 19, "predicted_n_glycosites": 19, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 352, "reported_interactions": 0, "missing_score": 9393, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 27, "binding_glycan_count": 0, "secondary_ac_list": "B5MDB0;Q96AU6", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0030425 dendrite", "go_biological_process": "GO:0016358 dendrite development;GO:0001764 neuron migration;GO:0009887 animal organ morphogenesis;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0048646 anatomical structure formation involved in morphogenesis", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8TDW7-3", "record_type": "protein", "filter_code": "0000000.1000101.000100.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DZ1-1", "uniprot_id": [ { "id": "ERLEC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DZ1", "type": "external" } ], "mass": 54858.0, "length": 483, "protein_name": "Endoplasmic reticulum lectin 1", "gene_name": "ERLEC1", "organism": "Human", "refseq_name": "endoplasmic reticulum lectin 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001120869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120869", "type": "external" } ], "gene_names_uniprotkb": "ERLEC1; C2orf30; PRO4321; XTP3TPB", "gene_names_refseq": "C2orf30; CIM; CL24936; CL25084; ERLEC1; HEL117; XTP3-B; XTP3TPB", "protein_names_uniprotkb": "Endoplasmic reticulum lectin 1; ER lectin; Erlectin; XTP3-transactivated gene B protein", "protein_names_refseq": "ER lectin; XTP3-transactivated gene B protein; XTP3-transactivated protein B; cancer invasion and metastasis-related; endoplasmic reticulum lectin 1 isoform 2 precursor; epididymis luminal protein 117; erlectin 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27248); (R-HSA-382556); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5678895); (R-HSA-9931269)", "pathway_count": 6, "publication_count": 178, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10484077;10665657;10748049;10984056;11146634;11237011;11486055;11504826;11562789;11812794;12379217;12379510;12403779;12604685;12975309;1352877;1356264;1359686;1377674;14661924;14702039;15075292;15163793;15175422;15292211;15472518;15489334;15611333;15815621;15863492;15899824;16282375;16335952;16531414;16611729;16816140;16901789;1695717;17126548;17507410;17523162;17855752;17894550;17977821;18264092;18282684;18434309;18502753;18534984;18538572;18711132;18716059;18991276;19002207;19081070;19346256;19447222;19570978;19603532;1968359;19862647;19917667;1998343;20068231;20104595;20583968;20585641;20621639;21083385;21118962;21257310;2135388;21357747;21652558;22047557;2210768;22178883;22318583;2236053;22645359;23063411;23112049;23356641;23584533;23719536;23867461;24019521;24685677;24714562;24715725;2475911;24784881;25133187;25418920;25576301;25584290;25660456;2570070;2570460;25813380;25944712;26154972;26208431;26811146;26992070;27452731;27600516;27862975;27920218;28132103;28832583;28904123;2898143;29055231;29242379;29393594;29493099;29508533;29557506;29632046;29706535;29786170;30118680;30315122;30334692;30334693;30429286;31154438;31217245;31611695;31679946;31844290;31848261;32157095;32161166;32265295;32350084;32387766;32442352;32488085;32897882;32938616;32981041;32983136;33141586;33298915;33936100;33968037;34171305;34509645;34561969;3457471;3472246;35051231;35251023;35318648;35580925;36010968;36284347;37074911;37938771;7523390;7529176;7553863;7553864;7865904;7885476;7985023;8689684;8824192;8896571;9593755;9652413;9816258;9831708", "class_list": "glycogene", "function": "Erlectin functions in N-glycan recognition in the endoplasmic reticulum and may regulate glycoprotein traffic, [RefSeq, PubMed]; Findings shed light on how tolerance to multiple cellular stresses at a metastatic site can be evoked by an integrated mechanism involving CIM, ERLEC1, which can function to coordinate those responses in a manner that promotes metastatic cell survival., [RefSeq, PubMed]; Identification of pathogenic variants of ERLEC1 in individuals with Class III malocclusion by exome sequencing., [RefSeq, PubMed]; Lectin involved in the quality control of the secretory pathway. As a member of the endoplasmic reticulum-associated degradation lumenal (ERAD-L) surveillance system, targets misfolded endoplasmic reticulum lumenal glycoproteins for degradation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins and glycoproteins., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The relative expression of OS9 and XTP3B and the distribution of glycan and non-glycan degrons within the same protein contribute to the fidelity., [RefSeq, PubMed]; This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]., [RefSeq]; XTP3-B forms an endoplasmic reticulum quality control scaffold with the HRD1-SEL1L ubiquitin ligase complex and BiP, [RefSeq, PubMed]; XTP3-B specifically binds to AT(NHK), which is a well-known substrate of ERAD, via a C-terminal MRH domain in a glycan-dependent manner., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 589, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RDB4;B5MC72;O95901;Q6UWN7;Q9NUY7;Q9UQL4", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0044322 endoplasmic reticulum quality control compartment", "go_biological_process": "GO:0030968 endoplasmic reticulum unfolded protein response;GO:0036503 ERAD pathway;GO:0030970 retrograde protein transport, ER to cytosol;GO:1904153 negative regulation of retrograde protein transport, ER to cytosol", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "Q96DZ1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100010000001.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HJ9-1", "uniprot_id": [ { "id": "FMC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HJ9", "type": "external" } ], "mass": 12749.0, "length": 113, "protein_name": "Protein FMC1 homolog", "gene_name": "FMC1", "organism": "Human", "refseq_name": "FMC1-LUC7L2 readthrough protein", "refseq_ac": [ { "id": "NP_001231513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231513", "type": "external" } ], "gene_names_uniprotkb": "FMC1; C7orf55; HSPC268", "gene_names_refseq": "C7orf55-LUC7L2; FMC1-LUC7L2", "protein_names_uniprotkb": "Protein FMC1 homolog; ATP synthase assembly factor FMC1, mitochondrial; Formation of mitochondrial complex V assembly factor 1 homolog", "protein_names_refseq": "C7orf55-LUC7L2 readthrough; FMC1-LUC7L2 readthrough protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100996928); (hsa:154791)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "24715725;28228285;28719601;28832583;28904123;29242379;30315122;30379171;31217245;31844290;32157095;33298915;33392160;33592498;33912179", "class_list": "", "function": "Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) (PubMed:28719601)., [UniProtKB, PubMed]; This locus represents naturally occurring readthrough transcription between the neighboring C7orf55 (chromosome 7 open reading frame 55) and LUC7L2 (LUC7-like 2) genes on chromosome 7. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z4Q3;Q75M90;Q9P0B3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q96HJ9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KT0-1", "uniprot_id": [ { "id": "FAAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KT0", "type": "external" } ], "mass": 11632.0, "length": 104, "protein_name": "Uncharacterized protein FAM167A-AS1", "gene_name": "FAM167A-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM167A-AS1; C8orf12", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein FAM167A-AS1; FAM167A antisense RNA 1; FAM167A antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q96KT0-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0D6-1", "uniprot_id": [ { "id": "FHDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0D6", "type": "external" } ], "mass": 124762.0, "length": 1143, "protein_name": "FH2 domain-containing protein 1", "gene_name": "FHDC1", "organism": "Human", "refseq_name": "FH2 domain-containing protein 1", "refseq_ac": [ { "id": "NP_203751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_203751", "type": "external" } ], "gene_names_uniprotkb": "FHDC1; INF1; KIAA1727", "gene_names_refseq": "FHDC1; INF1", "protein_names_uniprotkb": "FH2 domain-containing protein 1; Inverted formin-1", "protein_names_refseq": "FH2 domain-containing protein 1; inverted formin-1", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease dominant intermediate E (Disease Ontology:DOID:0110205)", "pathway": " (hsa:85462)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "18815276;19664994;21406692;23033978;24366607;25576301;25645385;26564798;27600516;27869121;29242379;29317506;29742020;30429286;31154438;31530632;31844290;31848261;32157095;32387766;32938616;33592498;33968037;33981976;34357683;35051231;35524876;35580925", "class_list": "", "function": "LncRNA LINC00665 Promotes Ovarian Cancer Cell Proliferation and Inhibits Apoptosis via Targeting miR-181a-5p/FHDC., [RefSeq, PubMed]; Microtubule-associated formin which regulates both actin and microtubule dynamics. Induces microtubule acetylation and stabilization and actin stress fiber formation (PubMed:18815276). Regulates Golgi ribbon formation (PubMed:26564798). Required for normal cilia assembly. Early in cilia assembly, may assist in the maturation and positioning of the centrosome/basal body, and once cilia assembly has initiated, may also promote cilia elongation by inhibiting disassembly (PubMed:29742020)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005874 microtubule;GO:0005884 actin filament;GO:0005929 cilium;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0060271 cilium assembly;GO:0030041 actin filament polymerization;GO:0090161 Golgi ribbon formation;GO:0043149 stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9C0D6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB96-1", "uniprot_id": [ { "id": "FANCE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB96", "type": "external" } ], "mass": 58711.0, "length": 536, "protein_name": "Fanconi anemia group E protein", "gene_name": "FANCE", "organism": "Human", "refseq_name": "Fanconi anemia group E protein isoform 1", "refseq_ac": [ { "id": "NP_068741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068741", "type": "external" } ], "gene_names_uniprotkb": "FANCE; FACE", "gene_names_refseq": "FACE; FAE; FANCE", "protein_names_uniprotkb": "Fanconi anemia group E protein; Protein FACE", "protein_names_refseq": "Fanconi anemia complementation group E; Fanconi anemia group E protein isoform 1; Fanconi anemia group E protein", "tax_id": 9606, "disease": "Fanconi anemia complementation group E (Disease Ontology:DOID:0111084)", "pathway": " (hsa:2178); (R-HSA-6783310); (R-HSA-9833482)", "pathway_count": 3, "publication_count": 220, "publication_id_list": "10082513;10348343;10400669;10620360;10626894;10648614;10848580;10866685;11001585;11096080;11134010;11152499;11156368;11237011;11238103;11238927;11239454;11278865;11313968;11337501;11350938;11438540;11500375;11781817;11909525;11939789;11985496;12093742;12231563;12397061;12649160;12724401;12882984;1373135;14585331;15229216;15299030;15502827;15572677;15737233;15752359;15907845;16116422;16179258;16179259;16373505;16431927;16600570;16717090;16916645;16943440;1695551;16982605;17079286;17196820;17289582;17296736;17412408;17460694;17924555;17938197;18082604;18096616;18174376;18452278;18669648;18767875;18835251;18931676;18957415;19111657;19229320;19416861;19561358;19589784;19596236;19664994;19690332;19710021;19733181;19804757;19838063;19995904;20102227;20347428;20347429;20385554;20395957;20519500;20603015;20603016;20603073;20670894;20671156;20685959;21072047;21123651;21294215;21406692;21464321;21518807;21636578;21701511;21764741;21937648;21978664;21994559;22214662;22258451;22266823;22287633;22396592;2247437;22510687;22692201;22986343;23084476;23186163;23229543;23325218;23481700;23698467;23723247;23732991;24076221;24347309;24389026;24623135;24623813;24659800;24715725;24726325;24753571;24905007;25430771;25500724;25576301;25653431;25848059;26432638;26446704;26488609;26716879;26817845;26992070;27208315;27269119;27423063;27920218;27974558;28069888;28167698;28281686;28765891;28832583;28904123;29170442;29175459;29231267;29242379;29348664;29394925;29395325;29440070;29501855;29632046;30174290;30315122;30770398;31031002;31154438;31217245;31844290;32093270;32157095;32387766;32502341;32716602;32801355;32983136;33392160;33592498;33808629;33911136;34171305;34174402;34211107;34509645;34724663;34974812;35051231;35580925;35685460;35947956;36010968;36241641;36712380;37127961;37184052;7491766;7515177;7545299;7565688;7693978;7737357;7903669;8576172;8576179;8661426;8810342;8910500;9034343;9079663;9442054;9521856;9528799;9687506;9737981;9819388;9920933", "class_list": "", "function": "As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2., [UniProtKB, PubMed, PubMed]; Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene, Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma., [RefSeq, PubMed]; Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion. Publication Status: Online-Only, [RefSeq, PubMed]; The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K907;Q4ZGH2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0043240 Fanconi anaemia nuclear complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0036297 interstrand cross-link repair", "synthesized_glycan_count": 0, "hit_score": 22.1, "record_id": "Q9HB96-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVI1-3", "uniprot_id": [ { "id": "FANCI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVI1", "type": "external" } ], "mass": 149324.0, "length": 1328, "protein_name": "Fanconi anemia group I protein", "gene_name": "FANCI", "organism": "Human", "refseq_name": "Fanconi anemia group I protein isoform 1", "refseq_ac": [ { "id": "NP_001106849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106849", "type": "external" } ], "gene_names_uniprotkb": "FANCI; KIAA1794", "gene_names_refseq": "FANCI; KIAA1794", "protein_names_uniprotkb": "Fanconi anemia group I protein; Protein FACI", "protein_names_refseq": "Fanconi anemia complementation group I; Fanconi anemia group I protein isoform 1; fanconi anemia group I protein", "tax_id": 9606, "disease": "female breast cancer (Disease Ontology:DOID:0050671); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); Fanconi anemia complementation group I (Disease Ontology:DOID:0111091); Fanconi anemia (Disease Ontology:DOID:13636)", "pathway": " (hsa:55215); (R-HSA-6783310); (R-HSA-6796648)", "pathway_count": 3, "publication_count": 161, "publication_id_list": "10984493;11239454;11350971;11971958;11988847;15572677;15781865;16916645;16943440;16964243;17289582;17412408;17452773;17460694;17525332;17938197;18082604;18174376;18445686;18669648;18691976;18931676;19111657;19465922;19561358;19589784;19596236;19995904;20102227;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;21464321;21701511;21764741;21775430;22012619;22258451;22287633;22396592;22424782;22510687;22645359;22692201;22898188;22988298;23186163;23325218;23698467;23723247;24076221;24366607;24389026;24554720;24623813;24662513;24714562;24715725;24726325;24905007;25429106;25430771;25469497;25500724;25561469;25576301;25712099;25862789;26154972;26375851;26811146;26992070;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28510447;28649982;28832583;28834231;28855257;28904123;29242379;29275860;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30410026;30484775;30524438;31217245;31240132;31530632;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34093574;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36385258;36833203;37217939;37324186;37938771;38077326;38483614;39085614;39534244;40914422;9063748", "class_list": "", "function": "Description of the Fanconi anemia protein FANCI, identified as an ATM/ATR kinase substrate required for resistance to mitomycin C; it associates with FANCD2 and, together, as the FANCI-FANCD2 (ID) complex, localizes to chromatin in response to DNA damage, [RefSeq, PubMed]; FANCD2-FANCI surveys DNA and recognizes double- to single-stranded junctions. Erratum:[Nature. 2025 Mar;639(8053):E2. doi: 10.1038/s41586-025-08763-z. PMID: 39962266], [RefSeq, PubMed]; FANCI is Associated with Poor Prognosis and Immune Infiltration in Liver Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; FANCI serve as a prognostic biomarker correlated with immune infiltrates in skin cutaneous melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene. Publication Status: Online-Only, [RefSeq, PubMed]; Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency., [RefSeq, PubMed]; Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites (PubMed:17412408, PubMed:17460694, PubMed:17452773, PubMed:19111657, PubMed:36385258). The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA (PubMed:19589784). Participates in S phase and G2 phase checkpoint activation upon DNA damage (PubMed:25862789)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4ZVE4;A5YMH4;A6NJZ0;Q96JN1;Q96ST0;Q9BT96", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0070182 DNA polymerase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0000785 chromatin", "go_biological_process": "GO:0031398 positive regulation of protein ubiquitination;GO:0036297 interstrand cross-link repair", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q9NVI1-3", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVL1-1", "uniprot_id": [ { "id": "F86C1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVL1", "type": "external" } ], "mass": 18454.0, "length": 165, "protein_name": "Putative protein FAM86C1P", "gene_name": "FAM86C1P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM86C1P; FAM86C1; FAM86C", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein FAM86C1P; 2.1.1.-; Protein FAM86C", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "23349634;26992070;27920218;28218747;28904123;29242379;29437277;29632046;30315122;31844290;33257508", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N5D3", "ec_number_list": [], "go_molecular_function": "GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0032991 protein-containing complex", "go_biological_process": "GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9NVL1-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPI3-1", "uniprot_id": [ { "id": "FLVC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPI3", "type": "external" } ], "mass": 57241.0, "length": 526, "protein_name": "Choline/ethanolamine transporter FLVCR2", "gene_name": "FLVCR2", "organism": "Human", "refseq_name": "choline/ethanolamine transporter FLVCR2 isoform 2", "refseq_ac": [ { "id": "NP_001182212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182212", "type": "external" } ], "gene_names_uniprotkb": "FLVCR2; C14orf58", "gene_names_refseq": "C14orf58; CCT; EPV; FLVCR2; FLVCRL14q; MFSD7C; PVHH; SLC49A2", "protein_names_uniprotkb": "Choline/ethanolamine transporter FLVCR2; CCT; Calcium-chelate transporter; Feline leukemia virus subgroup C receptor-related protein 2; Heme transporter FLVCR2; SLC49A5; Solute carrier family 49 member 2", "protein_names_refseq": "FLVCR heme transporter 2; calcium-chelate transporter; choline/ethanolamine transporter FLVCR2 isoform 2; choline/ethanolamine transporter FLVCR2; feline leukemia virus subgroup C cellular receptor family member 2; feline leukemia virus subgroup C receptor-related protein 2; heme transporter FLVCR2", "tax_id": 9606, "disease": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Disease Ontology:DOID:0111666)", "pathway": " (hsa:55640)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;14729055;20206334;20518025;20690116;20823265;23481700;25677735;29508533;31154438;32157095;32387766;32973183;34185709;35051231;35580925;36010968;38302740;38693257;38778100;39300060;40972734", "class_list": "", "function": "Choline uniporter that specifically mediates choline uptake at the blood-brain-barrier (PubMed:38302740, PubMed:38778100, PubMed:40972734). Responsible for the majority of choline uptake across the blood-brain-barrier from the circulation into the brain (By similarity). Choline, a nutrient critical for brain development, is a precursor of phosphatidylcholine, as well as betaine (By similarity). Also mediates transport of ethanolamine (PubMed:38778100). Choline and ethanolamine transport is not coupled with proton transport and is exclusively driven by the choline gradient across the plasma membrane (PubMed:38778100). However, the presence of an inwardly directed proton gradient enhances choline uptake (By similarity). Also acts as a heme b transporter (PubMed:20823265, PubMed:32973183). Required to regulate mitochondrial respiration processes, ATP synthesis and thermogenesis (PubMed:32973183). At low heme levels, interacts with components of electron transfer chain (ETC) complexes and ATP2A2, leading to ubiquitin-mediated degradation of ATP2A2 and inhibition of thermogenesis (PubMed:32973183). Upon heme binding, dissociates from ETC complexes to allow switching from mitochondrial ATP synthesis to thermogenesis (PubMed:32973183)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Direct sequencing of candidate genes within the target interval in chromosome 14q24.3 revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome., [RefSeq, PubMed]; High-throughput sequence data identified mutations and a large deletion in the FLVCR2 gene casuing lethal cerebral vasculopathy., [RefSeq, PubMed]; MFSD7C protects hemolysis-induced lung impairments by inhibiting ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular mechanism of choline and ethanolamine transport in humans., [RefSeq, PubMed]; Results report the cellular function of FLVCR2 as an importer of heme., [RefSeq, PubMed]; Structural and molecular basis of choline uptake into the brain by FLVCR2., [RefSeq, PubMed]; This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z485;Q53ZT9;Q96JY3;Q9NX90", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015232 heme transmembrane transporter activity;GO:0020037 heme binding;GO:0015220 choline transmembrane transporter activity;GO:0034228 ethanolamine transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0015871 choline transport;GO:0097037 heme export;GO:0150104 transport across blood-brain barrier", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9UPI3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57057-1", "uniprot_id": [ { "id": "G6PT2_HUMAN", "url": "https://www.uniprot.org/uniprot/P57057", "type": "external" } ], "mass": 57648.0, "length": 533, "protein_name": "Glucose-6-phosphate exchanger SLC37A1", "gene_name": "SLC37A1", "organism": "Human", "refseq_name": "glucose-6-phosphate exchanger SLC37A1", "refseq_ac": [ { "id": "NP_001307466", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307466", "type": "external" } ], "gene_names_uniprotkb": "SLC37A1; G3PP", "gene_names_refseq": "G3PP; SLC37A1; SPX1", "protein_names_uniprotkb": "Glucose-6-phosphate exchanger SLC37A1; G-3-P permease; Glycerol-3-phosphate permease; Solute carrier family 37 member 1", "protein_names_refseq": "G-3-P permease; G-3-P transporter; glucose-6-phosphate exchanger SLC37A1; glycerol-3-phosphate permease; glycerol-3-phosphate transporter; solute carrier family 37 (glucose-6-phosphate transporter), member 1; solute carrier family 37 (glycerol-3-phosphate transporter), member 1; sugar-phosphate exchange protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54020); (R-HSA-70263)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10.1101/2023.09.13.557529;10229653;10714828;11112347;11237011;11506403;11851336;12093795;12437512;1278465;12965222;14718531;14722102;15710582;18337460;183598;18449899;18613815;19118303;20934997;21949678;23328677;23506893;24714562;26154972;26992070;27920218;28228285;28467828;28514659;28832583;28834231;29242379;29314611;29557506;29632046;30429286;30573663;30779550;31154438;3170585;31844290;3208766;32265295;32350084;33298915;3355497;33912179;34357683;35051231;35154160;3529090;35318648;36284347;4827367;5009693;6434534;6771269;7144574;7391027;7573034;7717389;8211187;8447317;8571957;8645161;9382095;9428641;9585002;9657976;9678974;9758626", "class_list": "", "function": "Data show that SLC37A1 and SLC37A2 are endoplasmic reticulum associated, P(i)-linked antiporters, that can transport glucose-6-phosphate., [RefSeq, PubMed]; Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6-phosphatase. May not play a role in homeostatic regulation of blood glucose levels., [UniProtKB, PubMed]; The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DSJ7;Q9HAQ1", "ec_number_list": [], "go_molecular_function": "GO:0061513 glucose 6-phosphate:phosphate antiporter activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0015760 glucose-6-phosphate transport;GO:0035435 phosphate ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P57057-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK22-1", "uniprot_id": [ { "id": "FBX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK22", "type": "external" } ], "mass": 33328.0, "length": 296, "protein_name": "F-box only protein 2", "gene_name": "FBXO2", "organism": "Human", "refseq_name": "F-box only protein 2", "refseq_ac": [ { "id": "NP_036300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036300", "type": "external" } ], "gene_names_uniprotkb": "FBXO2; FBX2", "gene_names_refseq": "FBG1; FBX2; FBXO2; Fbs1; NFB42; OCP1", "protein_names_uniprotkb": "F-box only protein 2", "protein_names_refseq": "F-box gene 1; F-box only protein 2; organ of Corti protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26232); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 153, "publication_id_list": "10531035;10531037;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12140560;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14702039;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15489334;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16710414;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21269460;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28341977;28510447;28534482;29153394;29242379;29269301;29557506;30610225;30779550;31154438;32005965;32284348;32296183;32931479;32938616;33444648;33912179;35051231;35525855;37576703;39343799;7458746;9380723;9668046;9790970;9857061;9887101;9891082", "class_list": "glycogene", "function": "F-box only protein 2 exacerbates non-alcoholic fatty liver disease by targeting the hydroxyl CoA dehydrogenase alpha subunit., [RefSeq, PubMed]; FBXO2 promotes the progression of papillary thyroid carcinoma through the p53 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; FBXO2 targets glycosylated SUN2 for ubiquitination and degradation to promote ovarian cancer development. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Involved in the endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Prevents formation of cytosolic aggregates of unfolded glycoproteins that have been retrotranslocated into the cytosol. Able to recognize and bind denatured glycoproteins, preferentially those of the high-mannose type (By similarity)., [UniProtKB]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 436, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7K7;Q5TGY0;Q6FGJ7;Q8TB29;Q9UKC6", "ec_number_list": [], "go_molecular_function": "GO:0031249 denatured protein binding;GO:0001540 amyloid-beta binding;GO:0030246 carbohydrate binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098890 extrinsic component of postsynaptic membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0043197 dendritic spine", "go_biological_process": "GO:0036211 protein modification process;GO:0006508 proteolysis;GO:0008285 negative regulation of cell population proliferation;GO:0016567 protein ubiquitination;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q9UK22-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWH2-1", "uniprot_id": [ { "id": "FUND2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWH2", "type": "external" } ], "mass": 20676.0, "length": 189, "protein_name": "FUN14 domain-containing protein 2", "gene_name": "FUNDC2", "organism": "Human", "refseq_name": "FUN14 domain-containing protein 2", "refseq_ac": [ { "id": "NP_076423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076423", "type": "external" } ], "gene_names_uniprotkb": "FUNDC2; DC44; HCBP6; HCC3; PD03104", "gene_names_refseq": "DC44; FUNDC2; HCBP6; HCC3; PD03104", "protein_names_uniprotkb": "FUN14 domain-containing protein 2; Cervical cancer proto-oncogene 3 protein; HCC-3; Hepatitis C virus core-binding protein 6", "protein_names_refseq": "FUN14 domain-containing protein 2; HCC-3; cervical cancer oncogene 3; cervical cancer proto-oncogene 3 protein; hepatitis C virus core-binding protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:65991)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;12665903;17081983;18578522;18691976;18767875;19651622;19690332;20166139;21406692;21993680;23186163;23481700;24275569;24714562;24715725;25576301;25855506;26154972;26728094;26992070;27452731;27846572;27920218;28063628;28218747;28510447;28514659;28832583;28834231;28904123;29187281;29242379;29393594;29437277;29493099;29557506;29632046;29786068;29786170;30315122;30379171;30429286;30576423;30833945;31217245;31844290;31848261;32157095;32161166;32265295;32350084;32502341;32897882;32938616;33141586;33298915;33592498;33691108;33717175;33912179;33936100;34087483;34171305;34561969;35154160;35251023;35468421;35710796;36241641;37700593", "class_list": "", "function": "Binds directly and specifically 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate) (PIP3) leading to the recruitment of PIP3 to mitochondria and may play a role in the regulation of the platelet activation via AKT/GSK3B/cGMP signaling pathways (PubMed:29786068). May act as transcription factor that regulates SREBP1 (isoform SREBP-1C) expression in order to modulate triglyceride (TG) homeostasis in hepatocytes (PubMed:25855506, PubMed:29187281)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; FUNDC2 promotes liver tumorigenesis by inhibiting MFN1-mediated mitochondrial fusion. Publication Status: Online-Only, [RefSeq, PubMed]; FUNDC2, a mitochondrial outer membrane protein, mediates triple-negative breast cancer progression via the AKT/GSK3beta/GLI1 pathway., [RefSeq, PubMed]; Methylation of the HCBP6 promoter is associated with primary biliary cholangitis pathogenesis., [RefSeq, PubMed]; Our results provide new evidence that miR-122-regulated HCBP6 functions as a sensor protein to maintain intrahepatocyte Triglyceride levels., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7W5;D3DWY5;Q8NHX8;Q9H2I6", "ec_number_list": [], "go_molecular_function": "GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0010543 regulation of platelet activation;GO:0006351 DNA-templated transcription;GO:0000422 autophagy of mitochondrion;GO:0035356 intracellular triglyceride homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9BWH2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92914-1", "uniprot_id": [ { "id": "FGF11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92914", "type": "external" } ], "mass": 25005.0, "length": 225, "protein_name": "Fibroblast growth factor 11", "gene_name": "FGF11", "organism": "Human", "refseq_name": "fibroblast growth factor 11 isoform 2", "refseq_ac": [ { "id": "NP_001290389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290389", "type": "external" } ], "gene_names_uniprotkb": "FGF11; FHF3", "gene_names_refseq": "FGF-11; FGF11; FHF-3; FHF3", "protein_names_uniprotkb": "Fibroblast growth factor 11; FGF-11; FHF-3; Fibroblast growth factor homologous factor 3", "protein_names_refseq": "fibroblast growth factor 11 isoform 2; fibroblast growth factor homologous factor 3", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); pre-malignant neoplasm (Disease Ontology:DOID:0060071); developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); Coronavirus infectious disease (Disease Ontology:DOID:0080599); sarcoidosis (Disease Ontology:DOID:11335); adult respiratory distress syndrome (Disease Ontology:DOID:11394); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cystic fibrosis (Disease Ontology:DOID:1485); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lung non-small cell carcinoma (Disease Ontology:DOID:3908); rhinitis (Disease Ontology:DOID:4483); pneumonia (Disease Ontology:DOID:552); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:2256); (R-HSA-5576892)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11237011;11290418;1309946;14500339;15000524;18184654;19406745;21127204;21566136;21817159;22054663;22514276;23804213;25892735;27920218;29393594;33349842;34171305;34404435;35430272;36318359;37646922;8107964;8790420", "class_list": "glycogene", "function": "Expression and purification of intracrine human FGF 11 and study of its FGFR-dependent biological activity., [RefSeq, PubMed]; Fibroblast Growth Factor 11 Inhibits Hepatitis B Virus Gene Expression Through FXRalpha Suppression., [RefSeq, PubMed]; Fibroblast growth factor 11 (FGF11) promotes non-small cell lung cancer (NSCLC) progression by regulating hypoxia signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxia promotes thyroid cancer progression through HIF1alpha/FGF11 feedback loop., [RefSeq, PubMed]; Probably involved in nervous system development and function., [UniProtKB]; Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations., [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 294, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 21, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2YDX8", "ec_number_list": [], "go_molecular_function": "GO:0017080 sodium channel regulator activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0007399 nervous system development;GO:0022008 neurogenesis", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q92914-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCT0-1", "uniprot_id": [ { "id": "FGF22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCT0", "type": "external" } ], "mass": 19663.0, "length": 170, "protein_name": "Fibroblast growth factor 22", "gene_name": "FGF22", "organism": "Human", "refseq_name": "fibroblast growth factor 22 isoform 1 precursor", "refseq_ac": [ { "id": "NP_065688", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065688", "type": "external" } ], "gene_names_uniprotkb": "FGF22; PRO5800", "gene_names_refseq": "FGF22", "protein_names_uniprotkb": "Fibroblast growth factor 22; FGF-22", "protein_names_refseq": "FGF-22; fibroblast growth factor 22 isoform 1 precursor", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425)", "pathway": " (hsa:27006); (R-HSA-109704); (R-HSA-1257604); (R-HSA-190370); (R-HSA-190377); (R-HSA-2033519); (R-HSA-2219530); (R-HSA-5654219); (R-HSA-5654221); (R-HSA-5654687); (R-HSA-5654688); (R-HSA-5654689); (R-HSA-5654693); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5655253); (R-HSA-5658623); (R-HSA-5673001); (R-HSA-6811558)", "pathway_count": 22, "publication_count": 232, "publication_id_list": "10191262;10490103;10508167;10574949;10579907;10618369;10629055;10652257;10869344;10918587;11027663;11055896;11090077;11121055;11136978;11147812;11157491;11237011;11294897;11297579;11313946;11342227;11353842;11418238;11429702;11447289;11463336;11509569;11546808;11606067;11689702;11702783;11739186;11781872;11803464;11997436;12009017;12032311;12094235;12121613;12167717;12419216;12627230;12660731;12767043;12815057;12974390;12975309;1325671;1379698;1381348;14506247;14534538;14688794;14707138;15094036;15282208;15324302;15356145;15448205;1545823;15546878;15548653;15718470;15806171;15834429;15863029;15863030;16091734;16140923;16324873;16339315;16456541;16507368;1656221;16597617;16627759;16647110;16684964;16764984;16844695;16847462;16872596;1697263;1716764;17200115;17227708;17344846;17505008;17525745;17552943;17626883;17803937;17998941;18061161;18079394;18317450;18337450;18373495;18381441;18452557;18552176;18594509;18606717;18754654;18755892;18757403;18775330;18829560;18840094;1885605;18925875;18985070;1898771;19103595;19147536;19185485;19187780;19279408;19381019;19411071;19438505;19576174;19644473;19652666;19696444;19715689;19749790;19805105;19809159;19920134;19920141;19946327;19962665;20094046;20106510;20117945;20179196;20231295;20338997;20421966;20478380;20522708;20709759;20713702;21102635;21160078;21188471;21317208;21367659;21368164;21372320;21478295;21616146;21666749;21668414;21711248;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22432025;22569528;22588880;22589270;22750304;22802525;22802530;23103841;23112089;23303910;23443682;23575685;23640895;24026051;24897931;24937142;25219551;25781681;26085527;28778966;28948716;29627393;30803369;31135801;34117747;36010968;6148751;7543144;7559490;7637810;7647778;7719344;7744773;7773297;7809086;7935463;7972015;8052307;8264585;8394845;8493579;8622701;8645157;8657148;8663044;8665852;8710374;8755573;8780727;8798788;8939933;9045692;9182757;9299490;9438390;9480847;9502772;9539778;9604935;9632781;9660748;9700203;9730987;9736715;9857065;9895304;9927426", "class_list": "glycogene", "function": "FGF22 displays protective, antioxidant, and mitogenic effect on mammalian cells., [RefSeq, PubMed]; FGFBP1-mediated crosstalk between fibroblasts and pancreatic cancer cells via FGF22/FGFR2 promotes invasion and metastasis of pancreatic cancer., [RefSeq, PubMed]; High FGF22 expression is associated with Lung Adenocarcinoma., [RefSeq, PubMed]; Plays a role in the fasting response, glucose homeostasis, lipolysis and lipogenesis. Can stimulate cell proliferation (in vitro). May be involved in hair development., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; This study showed that serum FGF22 levels in depressive patients were negatively correlated with serum IL-1beta levels. In animal and cell experiments, enhancing the levels of FGF22 in rat hippocampus was demonstrated to alleviate the chronic unpredictable mild stress-induced depression. The increase in FGF22 was found to be associated with reduced IL-1beta expression and hippocampal apoptosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 279, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RPH4", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005730 nucleolus", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0043410 positive regulation of MAPK cascade;GO:0030334 regulation of cell migration;GO:0022008 neurogenesis", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "Q9HCT0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76093-1", "uniprot_id": [ { "id": "FGF18_HUMAN", "url": "https://www.uniprot.org/uniprot/O76093", "type": "external" } ], "mass": 23989.0, "length": 207, "protein_name": "Fibroblast growth factor 18", "gene_name": "FGF18", "organism": "Human", "refseq_name": "fibroblast growth factor 18 precursor", "refseq_ac": [ { "id": "NP_003853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003853", "type": "external" } ], "gene_names_uniprotkb": "FGF18; PRO856", "gene_names_refseq": "FGF-18; FGF18; ZFGF5", "protein_names_uniprotkb": "Fibroblast growth factor 18; FGF-18; zFGF5", "protein_names_refseq": "fibroblast growth factor 18 precursor", "tax_id": 9606, "disease": "Leri-Weill dyschondrosteosis (Disease Ontology:DOID:0060847); lung cancer (Disease Ontology:DOID:1324)", "pathway": " (hsa:8817); (R-HSA-109704); (R-HSA-1257604); (R-HSA-1839130); (R-HSA-190322); (R-HSA-190371); (R-HSA-190372); (R-HSA-190375); (R-HSA-2033519); (R-HSA-2219530); (R-HSA-5654221); (R-HSA-5654227); (R-HSA-5654228); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654704); (R-HSA-5654706); (R-HSA-5654710); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5654720); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-5655253); (R-HSA-5655332); (R-HSA-5658623); (R-HSA-5673001); (R-HSA-6811558)", "pathway_count": 30, "publication_count": 241, "publication_id_list": "10191262;10490103;10508167;10574949;10579907;10618369;10629055;10652257;10869344;10918587;11027663;11055896;11090077;11121055;11136978;11147812;11157491;11294897;11313946;11353842;11418238;11429702;11447289;11546808;11689702;11702783;11739186;11781872;11803464;11997436;12009017;12032311;12094235;12121613;12167717;12419216;12461689;12660731;12767043;12815057;12974390;12975309;1325671;1379698;1381348;14506247;14534538;14613973;14707138;14715624;14871245;15029211;15094036;15282208;15356145;15448205;1545823;15546878;15598814;15718470;15834429;15863029;15863030;15880580;16091734;16140923;16339315;16456541;16467200;16532037;1656221;16597617;16627759;16638743;16647110;16684964;16844695;16847462;1697263;1716764;17200115;17227708;17344846;17505008;17525745;17552943;17626883;17803937;17998941;18061161;18079394;18317450;18337450;18373495;18381441;18452557;18552176;18594509;18606717;18754654;18755892;18757403;18757432;18775330;18829560;18840094;18925875;1898771;19103595;19147536;19185485;19187780;19279408;19381019;19411071;19438505;19576174;19644473;19652666;19715689;19749790;19805105;19809159;19855393;19920134;19920141;19946327;19962665;20094046;20106510;20179196;20231295;20338997;20478380;20522708;20709759;20713702;21102635;21160078;21188471;21317208;21367659;21368164;21372320;21478295;21616146;21666749;21668414;21711248;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22432025;22569528;22588880;22589270;22750304;22802525;22802530;22837387;23103841;23112089;23175443;23298836;23303910;23443682;23558953;23575685;23640895;24026051;24588013;24897931;24937142;25219551;25467007;25781681;26085527;28778966;31135801;31527546;32109713;32934314;36791060;37340889;39894887;6148751;7543144;7559490;7637810;7647778;7719344;7744773;7773297;7809086;7935463;7972015;8052307;8264585;8394845;8493579;8589699;8599935;8622701;8640234;8645157;8657148;8663044;8665852;8710374;8754806;8755573;8780727;8798788;8841188;8845844;8939933;9045692;9154000;9182757;9279753;9299490;9438390;9480847;9502772;9538690;9539778;9604935;9632781;9660748;9660775;9700203;9736715;9742123;9857065;9895304;9927426", "class_list": "glycogene", "function": "Circulating FGF18 is decreased in pleural mesothelioma but not correlated with disease prognosis., [RefSeq, PubMed]; FGF18 promotes human lung branching morphogenesis through regulating mesenchymal progenitor cells., [RefSeq, PubMed]; FGF18-FGFR2 signaling triggers the activation of c-Jun-YAP1 axis to promote carcinogenesis in a subgroup of gastric cancer patients and indicates translational potential., [RefSeq, PubMed]; Identification of a genetic polymorphism in FGF18 significantly associated with the risk of Knee osteoarthritis based on samples with Chinese Han ancestry., [RefSeq, PubMed]; Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration. Required for normal ossification and bone development. Stimulates hepatic and intestinal proliferation., [UniProtKB, PubMed]; The FGF18 is promising candidates for prognostic factors in adenocarcinomas of the esophago-gastric junction and new potential targets for new anti-cancer therapies. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 206, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DQL7;Q6UWF1", "ec_number_list": [], "go_molecular_function": "GO:0005105 type 1 fibroblast growth factor receptor binding;GO:0008083 growth factor activity;GO:0005111 type 2 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 24.4, "record_id": "O76093-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95177-1", "uniprot_id": [ { "id": "GAAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95177", "type": "external" } ], "mass": 12619.0, "length": 125, "protein_name": "Uncharacterized protein GAS8-AS1", "gene_name": "GAS8-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GAS8-AS1; C16orf3", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein GAS8-AS1; GAS8 antisense RNA 1; GAS8 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "9790751", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95176;Q52LX9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "O95177-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7X4-1", "uniprot_id": [ { "id": "FHL19_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7X4", "type": "external" } ], "mass": 22644.0, "length": 201, "protein_name": "Putative ferritin heavy polypeptide-like 19", "gene_name": "FTH1P19", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FTH1P19; FTHL19", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ferritin heavy polypeptide-like 19; Ferritin heavy polypeptide 1 pseudogene 19", "protein_names_refseq": "", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "29557506;32387766;32938616", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008198 ferrous iron binding;GO:0004322 ferroxidase activity;GO:0008199 ferric iron binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0006826 iron ion transport", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0C7X4-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19526-1", "uniprot_id": [ { "id": "FUT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P19526", "type": "external" } ], "mass": 41251.0, "length": 365, "protein_name": "Galactoside alpha-(1,2)-fucosyltransferase 1", "gene_name": "FUT1", "organism": "Human", "refseq_name": "galactoside alpha-(1,2)-fucosyltransferase 1", "refseq_ac": [ { "id": "NP_000139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000139", "type": "external" } ], "gene_names_uniprotkb": "FUT1; HSC; H", "gene_names_refseq": "FUT1; HH; HSC; H", "protein_names_uniprotkb": "Galactoside alpha-(1,2)-fucosyltransferase 1; 2.4.1.344; 2.4.1.69; Alpha(1,2)FT 1; Blood group H alpha 2-fucosyltransferase; Fucosyltransferase 1; GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1; Type 1 galactoside alpha-(1,2)-fucosyltransferase FUT1; Type 2 galactoside alpha-(1,2)-fucosyltransferase FUT1", "protein_names_refseq": "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1; H antigen; H glycosyltransferase; H glycosytransferase; a-1, 2 fucosyltransferase (H antigen); alpha(1,2) fucosyltransferase 1; alpha(1,2)FT 1; blood group H alpha 2-fucosyltransferase; galactoside 2-L-fucosyltransferase enzyme; galactoside alpha-(1,2)-fucosyltransferase 1; nonfunctional fucosyltransferase 1; type 1 galactoside alpha-(1,2)-fucosyltransferase FUT1; type 2 galactoside alpha-(1,2)-fucosyltransferase FUT1", "tax_id": 9606, "disease": "obsolete Bombay phenotype (MONDO:MONDO:0014763)", "pathway": " (hsa:2523); (R-HSA-9033807); (R-HSA-9840309)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10092863;10601645;10748143;10993897;11018043;11283017;11956206;12198488;12222957;12668675;12815231;12888565;1601877;16934889;17259183;18192272;18205178;20547865;2118655;22735313;23290777;2333095;23746551;23882130;24498430;29802621;33968037;34625943;34982351;36641332;36649506;37085770;39256596;7876235;7890749;7912436;8631849;8643456;8830034;8910600;8920913;9030544;9122901;9125199;9199191;9219535;9226185;9299444;9582303;9745152;9822625", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose residue of glycoconjugates through an alpha(1,2) linkage leading to H antigen synthesis that is an intermediate substrate in the synthesis of ABO blood group antigens (PubMed:2118655). H antigen is essential for maturation of the glomerular layer of the main olfactory bulb, in cell migration and early cell-cell contacts during tumor associated angiogenesis (PubMed:18205178). Preferentially fucosylates soluble lactose and to a lesser extent fucosylates glycolipids gangliosides GA1 and GM1a (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; FUT1-mediated terminal fucosylation acts as a new target to attenuate renal fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of two novel FUT1 mutations in people with Bombay phenotype from Iran., [RefSeq, PubMed]; Molecular Genetic Analysis of Para-Bombay Phenotype in Chinese: Identification of a Novel FUT1 Allele., [RefSeq, PubMed]; Terminal alpha1,2-fucosylation of glycosphingolipids by FUT1 is a key regulator in early cell-fate decisions., [RefSeq, PubMed]; This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]., [RefSeq]; [Analysis of two novel variants of FUT1 gene in a Chinese family with para-Bombay phenotype]., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 488, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O14505;O14506;O14507", "ec_number_list": [ { "id": "2.4.1.344", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.344", "type": "external" }, { "id": "2.4.1.69", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.69", "type": "external" } ], "go_molecular_function": "GO:0008417 fucosyltransferase activity;GO:0031127 alpha-(1,2)-fucosyltransferase activity;GO:0008107 galactoside 2-alpha-L-fucosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:1903672 positive regulation of sprouting angiogenesis;GO:0006688 glycosphingolipid biosynthetic process;GO:0005975 carbohydrate metabolic process;GO:0009101 glycoprotein biosynthetic process;GO:0010595 positive regulation of endothelial cell migration", "synthesized_glycan_count": 1540, "hit_score": 5.2, "record_id": "P19526-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31512-1", "uniprot_id": [ { "id": "FMO4_HUMAN", "url": "https://www.uniprot.org/uniprot/P31512", "type": "external" } ], "mass": 63343.0, "length": 558, "protein_name": "Dimethylaniline monooxygenase [N-oxide-forming] 4", "gene_name": "FMO4", "organism": "Human", "refseq_name": "dimethylaniline monooxygenase [N-oxide-forming] 4", "refseq_ac": [ { "id": "NP_002013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002013", "type": "external" } ], "gene_names_uniprotkb": "FMO4; FMO2", "gene_names_refseq": "FMO2; FMO4", "protein_names_uniprotkb": "Dimethylaniline monooxygenase [N-oxide-forming] 4; 1.14.13.8; Dimethylaniline oxidase 4; FMO 4; Hepatic flavin-containing monooxygenase 4", "protein_names_refseq": "FMO 4; dimethylaniline monooxygenase [N-oxide-forming] 4; dimethylaniline oxidase 4; flavin containing monooxygenase 4; hepatic flavin-containing monooxygenase 4", "tax_id": 9606, "disease": "angiosarcoma (Disease Ontology:DOID:0001816); idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); inflammatory bowel disease (Disease Ontology:DOID:0050589); pre-malignant neoplasm (Disease Ontology:DOID:0060071); chromosome 1q21.1 deletion syndrome (Disease Ontology:DOID:0060411); lymphoproliferative syndrome (Disease Ontology:DOID:0060704); infantile onset multisystem autoimmune disease 1 (Disease Ontology:DOID:0061160); colorectal carcinoma (Disease Ontology:DOID:0080199); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); nasal type extranodal NK/T-cell lymphoma (Disease Ontology:DOID:0080797); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); chronic lymphocytic leukemia (Disease Ontology:DOID:1040); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); esophageal carcinoma (Disease Ontology:DOID:1107); heart disease (Disease Ontology:DOID:114); neutropenia (Disease Ontology:DOID:1227); Behcet's disease (Disease Ontology:DOID:13241); breast cancer (Disease Ontology:DOID:1612); duodenal ulcer (Disease Ontology:DOID:1724); squamous cell carcinoma (Disease Ontology:DOID:1749); hyperuricemia (Disease Ontology:DOID:1920); atherosclerosis (Disease Ontology:DOID:1936); rectum adenocarcinoma (Disease Ontology:DOID:1996); nephroblastoma (Disease Ontology:DOID:2154); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); colon adenocarcinoma (Disease Ontology:DOID:234); ovarian cancer (Disease Ontology:DOID:2394); Churg-Strauss syndrome (Disease Ontology:DOID:3049); glioblastoma (Disease Ontology:DOID:3068); autosomal dominant hyper-IgE syndrome 1 with recurrent infections (Disease Ontology:DOID:3261); angiomyolipoma (Disease Ontology:DOID:3314); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); pulmonary hypertension (Disease Ontology:DOID:6432); rheumatoid arthritis (Disease Ontology:DOID:7148); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); skin melanoma (Disease Ontology:DOID:8923); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); psoriatic arthritis (Disease Ontology:DOID:9008); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); peripartum cardiomyopathy (Disease Ontology:DOID:9997)", "pathway": " (hsa:2329)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "12527699;1417778;19307449;19898482;20529763;22869377;24715725;25576301;25880248;27600516;27862975;28228285;28832583;28904123;28940097;29242379;29288388;29493099;29508533;30315122;30410026;30429286;31154438;31844290;31848261;32157095;32357974;32502341;32983136;33592498;33691108;33912179;33981976;34932366;35051231;35318648;35561310;35580925;36241641;36284347", "class_list": "", "function": "Data show a compelling visual demonstration of the isoform-specific localization patterns of FMO1, -3, and -4 in the rat liver and kidney and the first evidence for expression of FMO4 at the protein level in mouse and human liver and kidney microsomes., [RefSeq, PubMed]; Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Jan 2015]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2013 May;45(5):578], [RefSeq, PubMed]; This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 51, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53XR0", "ec_number_list": [ { "id": "1.14.13.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.8", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.14.13.148", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.148", "type": "external" }, { "id": "1.14.13.32", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.32", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "1.6.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.1", "type": "external" } ], "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0050661 NADP binding;GO:0004499 N,N-dimethylaniline monooxygenase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P31512-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57775-1", "uniprot_id": [ { "id": "FBXW4_HUMAN", "url": "https://www.uniprot.org/uniprot/P57775", "type": "external" } ], "mass": 46337.0, "length": 412, "protein_name": "F-box/WD repeat-containing protein 4", "gene_name": "FBXW4", "organism": "Human", "refseq_name": "F-box/WD repeat-containing protein 4 isoform 1", "refseq_ac": [ { "id": "NP_071322", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071322", "type": "external" } ], "gene_names_uniprotkb": "FBXW4; FBW4; SHFM3", "gene_names_refseq": "DAC; FBW4; FBWD4; FBXW4; SHFM3; SHSF3", "protein_names_uniprotkb": "F-box/WD repeat-containing protein 4; Dactylin; F-box and WD-40 domain-containing protein 4", "protein_names_refseq": "F-box and WD-40 domain protein 4; F-box and WD-40 domain-containing protein 4; F-box/WD repeat protein 4; F-box/WD repeat-containing protein 4 isoform 1; F-box/WD repeat-containing protein 4; dactylin; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "split hand-foot malformation 3 (Disease Ontology:DOID:0090025)", "pathway": " (hsa:6468); (R-HSA-390471); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 4, "publication_count": 156, "publication_id_list": "10405324;10535940;10597293;10811609;10878807;10945468;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12502735;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;12913067;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18775504;18776931;18805092;18826954;18851830;18926707;19011634;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21098288;21447816;21463634;21778237;21863050;21940857;21995946;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23747015;23912815;23986495;24076655;24366543;24636985;24756126;24793695;24793696;25314029;25342745;25349211;25355947;25467444;25531226;25880248;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;28115426;28904123;29153394;29242379;29437277;29557506;29786170;30379171;30610225;31844290;32005965;32284348;33141586;33444648;33912179;35051231;38461489;39894887;9380723;9668046;9790970;9819444;9887101;9891082", "class_list": "", "function": "A complex rearrangement associated with a approximately 0.5 Mb tandem duplication ion containing a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and beta-TRCP genes., [RefSeq, PubMed]; CircFBXW4 Suppresses Colorectal Cancer Progression by Regulating the MiR-338-5p/SLC5A7 Axis., [RefSeq, PubMed]; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling., [UniProtKB, UniProtKB, UniProtKB]; This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5SVS1;Q96IM6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0030326 embryonic limb morphogenesis;GO:0016055 Wnt signaling pathway;GO:0060173 limb development;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "P57775-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59646-1", "uniprot_id": [ { "id": "FXYD4_HUMAN", "url": "https://www.uniprot.org/uniprot/P59646", "type": "external" } ], "mass": 9373.0, "length": 89, "protein_name": "FXYD domain-containing ion transport regulator 4", "gene_name": "FXYD4", "organism": "Human", "refseq_name": "FXYD domain-containing ion transport regulator 4 precursor", "refseq_ac": [ { "id": "NP_001171892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171892", "type": "external" } ], "gene_names_uniprotkb": "FXYD4; PRO1069", "gene_names_refseq": "CHIF; FXYD4", "protein_names_uniprotkb": "FXYD domain-containing ion transport regulator 4", "protein_names_refseq": "FXYD domain-containing ion transport regulator 4 precursor; channel-inducing factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:53828); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 90, "publication_id_list": "10087012;10220561;10401004;10484781;10615129;10767338;10913253;10950925;11062458;11904675;12119109;12217851;12535606;12832055;12953268;12975309;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16115318;16182249;16522641;1656976;16700898;16754674;1693919;17224452;17357072;17486119;17662961;18723824;18995841;19278978;19345671;19751721;19878721;20223979;20388710;21108950;2160952;22186024;22210847;2226863;22401777;22427649;22552008;22707725;22814904;22972900;23196729;23362265;23549614;23610579;23641311;24272870;2430951;24392018;24584101;2477373;2559024;25801024;25994790;26002965;27067231;2838329;28425720;28645727;2953725;29557506;29945920;30201761;31048504;6328127;6832622;7626145;7702581;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285", "class_list": "", "function": "Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane (By similarity). Increases the apparent affinity of the transporter for Na(+) and increases NKA activity (By similarity)., [UniProtKB, UniProtKB]; CHIF can act as tissue-specific modulators of Na-K-ATPase, [RefSeq, PubMed]; Molecular cloning, protein expression, sequencing and NMR structure determination, [RefSeq, PubMed]; This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6UWZ1;Q7Z4M5", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding;GO:0017080 sodium channel regulator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0005890 sodium:potassium-exchanging ATPase complex", "go_biological_process": "GO:0006883 intracellular sodium ion homeostasis;GO:0010248 establishment or maintenance of transmembrane electrochemical gradient;GO:0030007 intracellular potassium ion homeostasis;GO:0036376 sodium ion export across plasma membrane;GO:1903278 positive regulation of sodium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "P59646-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q11128-1", "uniprot_id": [ { "id": "FUT5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q11128", "type": "external" } ], "mass": 42989.0, "length": 374, "protein_name": "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5", "gene_name": "FUT5", "organism": "Human", "refseq_name": "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5", "refseq_ac": [ { "id": "NP_002025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002025", "type": "external" } ], "gene_names_uniprotkb": "FUT5", "gene_names_refseq": "FUC-TV; FUT5", "protein_names_uniprotkb": "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5; 2.4.1.152; 2.4.1.65; 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT5; Fuc-TV; FucT-V; Fucosyltransferase 5; Fucosyltransferase V; Galactoside 3-L-fucosyltransferase", "protein_names_refseq": "3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT5; 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5; alpha (1,3) fucosyltransferase; alpha-(1,3)-fucosyltransferase 5; fucT-V; fucosyltransferase V; galactoside 3-L-fucosyltransferase", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:2527); (R-HSA-9037629)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10206952;10212226;10988254;11511810;12107078;12222957;12678917;14688233;14718375;15158662;1520296;1702034;17123352;1716630;1740457;17604274;1977660;21978830;22619806;24953560;28771224;29593094;30808544;7650030;7721776;7876235;8207002;8240337;8288606;8333853;9219535;9582303;9737988;9737989", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes preferentially the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the N-acetyl-beta-D-glucosamine (GlcNAc) of an N-acetyllactosamine unit (type 2 chain) of an oligosaccharide, or a glycoprotein- and a glycolipid-linked N-acetyllactosamine unit via an alpha (1,3) linkage and participates in the surface expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens (PubMed:14718375, PubMed:1740457, PubMed:17604274, PubMed:29593094, PubMed:7721776, PubMed:9737988, PubMed:9737989). Preferentially transfers fucose to the GlcNAc of an internal N-acetyllactosamine unit of a poly-N-acetyllactosamine chain acceptor substrate (PubMed:17604274, PubMed:7721776). Also catalyzes to a lesser extend the transfer of L-fucose to the GlcNAc of a type 1 (beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl) or H-type 1 (alpha-L-Fuc-(1->2)-beta-D-Gal-(1->3)-D-GlcNAc) chain oligosaccharide via an alpha (1,4) linkage (PubMed:14718375, PubMed:1740457, PubMed:17604274, PubMed:7721776, PubMed:9737988). Preferentially catalyzes sialylated type 2 oligosaccharide acceptors over neutral type 2 or H type 2 (alpha-L-Fuc-(1->2)-beta-D-Gal-(1->4)-D-GlcNAc) oligosaccharide acceptors (PubMed:1740457, PubMed:9737989). Lactose-based structures are also acceptor substrates (PubMed:1740457, PubMed:7721776)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Data suggest that both FUT5 and FUT6 can promote the development of colorectal cancer (CRC) via the PI3K/Akt signalling pathway, which is regulated by miR-125a-3p. miR-125a-3p may serve as a predictive biomarker and a potential therapeutic target in CRC treatment. Publication Status: Online-Only, [RefSeq, PubMed]; Down-regulation of FUT3 and FUT5 reduces the expression of sialyl-Lewis antigens and the adhesion capacities of gastric cancer cells and allows to identify the specific alpha1-3,4 fucosyltransferases implicated in the Lewis antigens synthesis, [RefSeq, PubMed]; FUT5 was expressed on spermatid membranes and in serum, but not in seminal plasma, vaginal fluid and saliva. Expression was localized on head of spermatids., [RefSeq, PubMed]; Overexpressed N-fucosylation on cell surface promotes the migration and invasion of metastatic pancreatic cancer cells. Overexpressed N-fucosylation is driven by gene FUT3, 5, and 6 in metastatic pancreatic cancer cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 593, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K4X2;K7ENC0", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.65", "type": "external" }, { "id": "2.4.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.152", "type": "external" } ], "go_molecular_function": "GO:0008417 fucosyltransferase activity;GO:0017060 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity;GO:0046920 alpha-(1->3)-fucosyltransferase activity;GO:0017083 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006493 protein O-linked glycosylation;GO:0009101 glycoprotein biosynthetic process;GO:0006672 ceramide metabolic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 816, "hit_score": 3.9, "record_id": "Q11128-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000000.110.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3SYB3-1", "uniprot_id": [ { "id": "FX4L6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3SYB3", "type": "external" } ], "mass": 45787.0, "length": 417, "protein_name": "Forkhead box protein D4-like 6", "gene_name": "FOXD4L6", "organism": "Human", "refseq_name": "forkhead box protein D4-like 6", "refseq_ac": [ { "id": "NP_001078945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078945", "type": "external" } ], "gene_names_uniprotkb": "FOXD4L6", "gene_names_refseq": "FOXD4L6", "protein_names_uniprotkb": "Forkhead box protein D4-like 6; FOXD4-like 6", "protein_names_refseq": "FOXD4-like 6; forkhead box protein D4-like 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:653404)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RPC4;Q4V336", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q3SYB3-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q495W5-1", "uniprot_id": [ { "id": "OFUT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q495W5", "type": "external" } ], "mass": 55816.0, "length": 492, "protein_name": "GDP-fucose protein O-fucosyltransferase 4", "gene_name": "POFUT4", "organism": "Human", "refseq_name": "GDP-fucose protein O-fucosyltransferase 4 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001271123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271123", "type": "external" } ], "gene_names_uniprotkb": "POFUT4; FUT11", "gene_names_refseq": "FUCTXI; FUT11; POFUT4", "protein_names_uniprotkb": "GDP-fucose protein O-fucosyltransferase 4; 2.4.1.-; 2.4.1.221; Alpha-(1,3)-fucosyltransferase 11; Fuc-TXI; FucT-XI; Fucosyltransferase 11; Fucosyltransferase XI; Galactoside 3-L-fucosyltransferase 11", "protein_names_refseq": "GDP-fucose protein O-fucosyltransferase 4 isoform 2 precursor; GDP-fucose protein O-fucosyltransferase 4; alpha (1,3) fucosyltransferase; alpha-(1,3)-fucosyltransferase 11; fuc-TXI; fucT-XI; fucosyltransferase XI; galactoside 3-L-fucosyltransferase 11", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534)", "pathway": " (hsa:170384); (R-HSA-5173105)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;19088067;19159218;22424782;23481700;23584533;24190977;24318988;25418920;25576301;25880248;26154972;26992070;27846572;27920218;28228285;28832583;28834231;28855257;28912033;29242379;29493099;29632711;30315122;30429286;30833945;31324691;31611695;31844290;31848261;32157095;32265295;32350084;32357974;32502341;32897882;32938616;32983136;33141586;33592498;33691108;33717175;33968037;33981976;34288238;34357683;34932366;35051231;35251023;35580925;36241641;36284347;36403525;38237698;38665916;39775168", "class_list": "glycogene;glycosyltransferase", "function": "Activity, splice variants, conserved peptide motifs, and phylogeny of two new alpha1,3-fucosyltransferase families (FUT10 and FUT11)., [RefSeq, PubMed]; Dry and wet experiments reveal the significant role of FUT11 in clear cell renal cell carcinoma., [RefSeq, PubMed]; FUT11 is a target gene of HIF1alpha that promotes the progression of hepatocellular carcinoma., [RefSeq, PubMed]; FUT11's expression might be potentially used as a biomarker of disease progression in clear cell renal cell carcinoma, [RefSeq, PubMed]; Protein O-fucosyltransferase that specifically catalyzes O-fucosylation of serine or threonine residues in EMI domains of target proteins, such as MMRN1, MMRN2 and EMID1 (PubMed:39775168). Attaches fucose through an O-glycosidic linkage (PubMed:39775168). O-fucosylation of EMI domain-containing proteins may be required for facilitating protein folding and secretion (PubMed:39775168). Also shows minor alpha-(1,3)-fucosyltransferase activity toward activity toward biantennary N-glycan acceptors (PubMed:19088067). However, this was tested with a library of synthetic substrates and this activity is unsure in vivo (PubMed:19088067)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 705, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q495W7;Q8IYE4", "ec_number_list": [ { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046922 peptide-O-fucosyltransferase activity;GO:0008417 fucosyltransferase activity;GO:0046920 alpha-(1->3)-fucosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0050714 positive regulation of protein secretion;GO:0006491 N-glycan processing", "synthesized_glycan_count": 1641, "hit_score": 7.0, "record_id": "Q495W5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWT5-1", "uniprot_id": [ { "id": "FYB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWT5", "type": "external" } ], "mass": 82070.0, "length": 728, "protein_name": "FYN-binding protein 2", "gene_name": "FYB2", "organism": "Human", "refseq_name": "FYN-binding protein 2", "refseq_ac": [ { "id": "NP_001004303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004303", "type": "external" } ], "gene_names_uniprotkb": "FYB2; ARAP; C1orf168", "gene_names_refseq": "ARAP; C1orf168; FYB2", "protein_names_uniprotkb": "FYN-binding protein 2; Activation-dependent, raft-recruited ADAP-like phosphoprotein", "protein_names_refseq": "FYN-binding protein 2; RP4-758N20.2; activation-dependent, raft-recruited ADAP-like phosphoprotein; uncharacterized protein C1orf168", "tax_id": 9606, "disease": "", "pathway": " (hsa:199920)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "27335501;32938616;35051231;36010968", "class_list": "", "function": "Adapter protein that plays a role in T-cell receptor (TCR)-mediated activation of signaling pathways. Required for T-cell activation and integrin-mediated T-cell adhesion in response to TCR stimulation (PubMed:27335501)., [UniProtKB, PubMed]; Results of this study indicate that a novel T cell adaptor protein, activation-dependent, raft-recruited ADAP-like phosphoprotein (ARAP), plays a unique role in T cells as a part of both the proximal activation signaling and inside-out signaling pathways that result in integrin activation and T cell adhesion, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q63HM3;Q6ZUY6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0001772 immunological synapse", "go_biological_process": "GO:0007229 integrin-mediated signaling pathway;GO:0072659 protein localization to plasma membrane;GO:0050852 T cell receptor signaling pathway;GO:0033627 cell adhesion mediated by integrin", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5VWT5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NT46-1", "uniprot_id": [ { "id": "GAG2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NT46", "type": "external" } ], "mass": 12785.0, "length": 116, "protein_name": "G antigen 2A", "gene_name": "GAGE2A", "organism": "Human", "refseq_name": "G antigen 2A/2B", "refseq_ac": [ { "id": "NP_001120684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120684", "type": "external" } ], "gene_names_uniprotkb": "GAGE2A; GAGE2", "gene_names_refseq": "CT4.2; GAGE-2A; GAGE-2; GAGE2A; GAGE2", "protein_names_uniprotkb": "G antigen 2A; GAGE-2A", "protein_names_refseq": "G antigen 2A/2B; G antigen 2; cancer/testis antigen 4.2; cancer/testis antigen family 4, member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:729447)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "10397259;18179644;19934278", "class_list": "", "function": "Data show that EZH2 is a crucial regulator of GAGE2 expression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6NT46-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P3S6-1", "uniprot_id": [ { "id": "FBX42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P3S6", "type": "external" } ], "mass": 77839.0, "length": 717, "protein_name": "F-box only protein 42", "gene_name": "FBXO42", "organism": "Human", "refseq_name": "F-box only protein 42", "refseq_ac": [ { "id": "NP_061867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061867", "type": "external" } ], "gene_names_uniprotkb": "FBXO42; FBX42; JFK; KIAA1332", "gene_names_refseq": "FBXO42; Fbx42; JFK", "protein_names_uniprotkb": "F-box only protein 42; Just one F-box and Kelch domain-containing protein", "protein_names_refseq": "F-box only protein 42; just one F-box and Kelch domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54455)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18669648;19509332;19651622;19690332;20068231;21127074;23186163;23481700;24063688;24714562;24715725;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26992070;27846572;27862975;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29632711;29671580;30315122;30429286;30524438;31549767;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33912179;33968037;33981976;34087483;35051231;35318648;35494241;35580925;36010968;37938771;39134694", "class_list": "", "function": "A genome-wide CRISPR screen identifies FBXO42 involvement in resistance toward MEK inhibition in NRAS-mutant melanoma., [RefSeq, PubMed]; Comprehensive analysis identifies ubiquitin ligase FBXO42 as a tumor-promoting factor in neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; JFK promotes p53 turnover through assembly of an SCF (Skp1-Cul1-F-box) complex, revealing a pathway for the control of p53 degradation and providing a link between the SCF complex and p53 regulation. Erratum:[Proc Natl Acad Sci U S A. 2025 Feb 18;122(7):e2426753122. doi: 10.1073/pnas.2426753122. PMID: 39913193], [RefSeq, PubMed]; Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010]., [RefSeq]; Substrate phosphorylation and feedback regulation in JFK-promoted p53 destabilization., [RefSeq, PubMed]; Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specifically recognizes p53/TP53, promoting its ubiquitination and degradation., [UniProtKB, PubMed]; The findings of this study suggest that a haplotype of the FBXO42 gene might be associated with a higher susceptibility to PD. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KP30;Q5TEU8;Q86XI0;Q8N3N4;Q8N5F8;Q9BRM0;Q9P2L4", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q6P3S6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P4F1-1", "uniprot_id": [ { "id": "OFUT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P4F1", "type": "external" } ], "mass": 56094.0, "length": 479, "protein_name": "GDP-fucose protein O-fucosyltransferase 3", "gene_name": "POFUT3", "organism": "Human", "refseq_name": "GDP-fucose protein O-fucosyltransferase 3", "refseq_ac": [ { "id": "NP_116053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116053", "type": "external" } ], "gene_names_uniprotkb": "POFUT3; FUT10", "gene_names_refseq": "FUCTX; FUT10; POFUT3", "protein_names_uniprotkb": "GDP-fucose protein O-fucosyltransferase 3; 2.4.1.-; 2.4.1.221; Alpha-(1,3)-fucosyltransferase 10; Fuc-TX; FucT-X; Fucosyltransferase 10; Fucosyltransferase X; Galactoside 3-L-fucosyltransferase 10", "protein_names_refseq": "GDP-fucose protein O-fucosyltransferase 3; alpha (1,3) fucosyltransferase; alpha 1,3-fucosyl transferase; alpha-(1,3)-fucosyltransferase 10; fuc-TX; fucT-X; fucosyltransferase X; galactoside 3-L-fucosyltransferase 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:84750); (R-HSA-5173105)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11698403;12370785;19088067;23584533;25813380;25880248;25892735;28514659;28912033;30459171;31217245;31844290;32350084;33717175;34357683;35051231;35251023;38237698;39775168", "class_list": "glycogene;glycosyltransferase", "function": "Activity, splice variants, conserved peptide motifs, and phylogeny of two new alpha1,3-fucosyltransferase families (FUT10 and FUT11)., [RefSeq, PubMed]; Comparison of human and mouse Fuc-TX and Fuc-TXI genes, and expression studies in the mouse., [RefSeq, PubMed]; Protein O-fucosyltransferase that specifically catalyzes O-fucosylation of serine or threonine residues in EMI domains of target proteins, such as MMRN1, MMRN2 and EMID1 (PubMed:39775168). Attaches fucose through an O-glycosidic linkage (PubMed:39775168). O-fucosylation of EMI domain-containing proteins may be required for facilitating protein folding and secretion (PubMed:39775168). May also show alpha-(1,3)-fucosyltransferase activity toward the innermost N-acetyl glucosamine (GlcNAc) residue in biantennary N-glycan acceptors (PubMed:19088067). However, this was tested with a library of synthetic substrates and this activity is unsure in vivo (PubMed:19088067). May be involved in biosynthesis of Lewis X-carrying biantennary N-glycans that regulate neuron stem cell self-renewal during brain development (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 592, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8KAC8;Q70GG3;Q8IVI6;Q8IVI7;Q8IVJ3;Q8TE43;Q9BSR3", "ec_number_list": [ { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046922 peptide-O-fucosyltransferase activity;GO:0008417 fucosyltransferase activity;GO:0046920 alpha-(1->3)-fucosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005764 lysosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0009566 fertilization;GO:0006493 protein O-linked glycosylation;GO:0006605 protein targeting;GO:0009101 glycoprotein biosynthetic process", "synthesized_glycan_count": 1641, "hit_score": 3.3, "record_id": "Q6P4F1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6QHK4-1", "uniprot_id": [ { "id": "FIGLA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6QHK4", "type": "external" } ], "mass": 24123.0, "length": 219, "protein_name": "Factor in the germline alpha", "gene_name": "FIGLA", "organism": "Human", "refseq_name": "factor in the germline alpha", "refseq_ac": [ { "id": "NP_001004311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004311", "type": "external" } ], "gene_names_uniprotkb": "FIGLA; BHLHC8", "gene_names_refseq": "BHLHC8; FIGALPHA; FIGLA; POF6", "protein_names_uniprotkb": "Factor in the germline alpha; Class C basic helix-loop-helix protein 8; FIGalpha; Folliculogenesis-specific basic helix-loop-helix protein; Transcription factor FIGa; bHLHc8", "protein_names_refseq": "class C basic helix-loop-helix protein 8; factor in the germline alpha; folliculogenesis-specific basic helix-loop-helix protein; transcription factor FIGa", "tax_id": 9606, "disease": "primary ovarian insufficiency 6 (Disease Ontology:DOID:0080863)", "pathway": " (hsa:344018)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "12468641;15044608;18499083;29914564;30474133;35580925", "class_list": "", "function": "Biallelic mutations in FIGLA may be the cause of premature ovarian insufficiency (POI) . This study will aid researchers and clinicians in genetic counseling of POI and provides new insights into understanding the mode of genetic inheritance of FIGLA mutations in POI pathology. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of mRNA observed in ovarian follicles, mature oocytes, and less frequently in preimplantation embryos., [RefSeq, PubMed]; Germline specific transcription factor implicated in postnatal oocyte-specific gene expression. Plays a key regulatory role in the expression of multiple oocyte-specific genes, including those that initiate folliculogenesis and those that encode the zona pellucida (ZP1, ZP2 and ZP3) required for fertilization and early embryonic survival. Essential for oocytes to survive and form primordial follicles. The persistence of FIGLA in adult females suggests that it may regulate additional pathways that are essential for normal ovarian development. Binds to the E-box (5'-CANNTG-3') of the ZPs (ZP1, ZP2, ZP3) promoters., [UniProtKB, PubMed]; Our results support the notion that bi-allelic recessive loss-of-function effects of FIGLA contribute to POI patients with short stature and expand the FIGLA-related phenotypic spectrum., [RefSeq, PubMed]; These results suggest that FIGLA is involved in continued oocyte survival as primordial follicles form in the human as in the rodent ovary., [RefSeq, PubMed]; This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0032502 developmental process;GO:0048599 oocyte development", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6QHK4-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6VB84-1", "uniprot_id": [ { "id": "FX4L3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6VB84", "type": "external" } ], "mass": 45820.0, "length": 417, "protein_name": "Forkhead box protein D4-like 3", "gene_name": "FOXD4L3", "organism": "Human", "refseq_name": "forkhead box protein D4-like 3", "refseq_ac": [ { "id": "NP_954586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_954586", "type": "external" } ], "gene_names_uniprotkb": "FOXD4L3", "gene_names_refseq": "FOXD4L3", "protein_names_uniprotkb": "Forkhead box protein D4-like 3; FOXD4-like 3", "protein_names_refseq": "FOXD4-like 3; Myeloid factor-gamma; forkhead box protein D4-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:286380)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "15233989;34156092", "class_list": "", "function": "The molecular landscape of well differentiated retroperitoneal liposarcoma., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JTX9", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6VB84-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZQY3-1", "uniprot_id": [ { "id": "GADL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZQY3", "type": "external" } ], "mass": 59246.0, "length": 521, "protein_name": "Acidic amino acid decarboxylase GADL1", "gene_name": "GADL1", "organism": "Human", "refseq_name": "acidic amino acid decarboxylase GADL1", "refseq_ac": [ { "id": "NP_997242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997242", "type": "external" } ], "gene_names_uniprotkb": "GADL1", "gene_names_refseq": "ADC; CSADC; GADL1; HuADC; HuCSADC", "protein_names_uniprotkb": "Acidic amino acid decarboxylase GADL1; 4.1.1.11; 4.1.1.29; ADC; Aspartate 1-decarboxylase; CSADC; Cysteine sulfinic acid decarboxylase; Glutamate decarboxylase-like protein 1; HuADC; HuCSADC", "protein_names_refseq": "acidic amino acid decarboxylase GADL1; aspartate 1-decarboxylase; cysteine sulfinic acid decarboxylase; glutamate decarboxylase like 1; glutamate decarboxylase-like protein 1; sulfinoalanine decarboxylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:339896); (R-HSA-1614558); (R-HSA-8963693)", "pathway_count": 3, "publication_count": 52, "publication_id_list": "10085079;10212249;10369257;10642534;11566871;12602510;12871026;14716746;16195549;16467855;16669630;17027983;17135237;17194761;17581819;18872649;19261609;19625201;19641205;19678840;19807691;22304711;2241899;22718265;23038267;23413359;236774;23698001;24155240;24369049;24657844;25415457;25576301;2564390;26327310;26437775;27045997;27484215;28214779;28412453;29055825;29372909;29557506;30429286;30923325;31848261;32156684;32157095;33298915;4052435;9070219;9537447", "class_list": "", "function": "Effects of GADL1 overexpression on cell migration and the associated morphological changes. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variations in GADL1 are associated with the response to lithium maintenance treatment for bipolar I disorder in patients of Han Chinese descent. Erratum:[N Engl J Med. 2014 May 8;370(19):1866], [RefSeq, PubMed]; May catalyze the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. Does not exhibit any decarboxylation activity toward glutamate., [UniProtKB, PubMed]; No difference in GADL1 expression was observed among lymphoblastoid cells from excellent-responders, non-responders or controls. Furthermore, lithium did not induce significant changes in GADL1 expression levels after 4 or 8 days. These results did not support an association of GADL1 expression in the determination of a lithium response in BD patients., [RefSeq, PubMed]; Taurine biosynthesis in vertebrates involves two structurally related PLP-dependent decarboxylases (cysteine sulfinic acid decarboxylase and glutamic acid decarboxylase like 1), [RefSeq, PubMed]; The study did not identify a major relationship between the GADL1 polymorphisms and lithium response in an Indian population., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "4.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.29", "type": "external" }, { "id": "4.1.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.11", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0004782 sulfinoalanine decarboxylase activity;GO:0004068 aspartate 1-decarboxylase activity;GO:0016831 carboxy-lyase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q6ZQY3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZUT3-1", "uniprot_id": [ { "id": "FRMD7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZUT3", "type": "external" } ], "mass": 81614.0, "length": 714, "protein_name": "FERM domain-containing protein 7", "gene_name": "FRMD7", "organism": "Human", "refseq_name": "FERM domain-containing protein 7 isoform 2", "refseq_ac": [ { "id": "NP_001293122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293122", "type": "external" } ], "gene_names_uniprotkb": "FRMD7", "gene_names_refseq": "FRMD7; NYS1; NYS; XIPAN", "protein_names_uniprotkb": "FERM domain-containing protein 7", "protein_names_refseq": "FERM domain-containing protein 7 isoform 2; FERM domain-containing protein 7", "tax_id": 9606, "disease": "congenital nystagmus 1 (Disease Ontology:DOID:0111790); congenital nystagmus (Disease Ontology:DOID:9649)", "pathway": " (hsa:90167)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;16240070;17013395;17397053;17768376;17893669;17962394;18087240;18246032;18431453;19892780;21303855;21365021;22128244;22490987;23946638;25418920;30379171;32446246;33592498;35705619;35762937;38279119", "class_list": "", "function": "Correlations of FRMD7 gene mutations with ocular oscillations. Publication Status: Online-Only, [RefSeq, PubMed]; FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome., [RefSeq, PubMed]; Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus., [RefSeq, PubMed]; Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability., [UniProtKB, PubMed, UniProtKB, PubMed]; Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications. Publication Status: Online-Only, [RefSeq, PubMed]; X-linked recessive congenital motor nystagmus mapped to a region overlapped with that for X-linkaged dominant form., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C0LLJ3;Q5JX99", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0030426 growth cone;GO:0043025 neuronal cell body;GO:0043005 neuron projection", "go_biological_process": "GO:0007399 nervous system development;GO:0010975 regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q6ZUT3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7B0-1", "uniprot_id": [ { "id": "FLIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7B0", "type": "external" } ], "mass": 138109.0, "length": 1213, "protein_name": "Filamin-A-interacting protein 1", "gene_name": "FILIP1", "organism": "Human", "refseq_name": "filamin-A-interacting protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001276916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276916", "type": "external" } ], "gene_names_uniprotkb": "FILIP1; KIAA1275", "gene_names_refseq": "FILIP1; FILIP; NMDF", "protein_names_uniprotkb": "Filamin-A-interacting protein 1; FILIP", "protein_names_refseq": "filamin-A-interacting protein 1 isoform 1", "tax_id": 9606, "disease": "neuromuscular disorder, congenital, with dysmorphic facies (MONDO:MONDO:0958332)", "pathway": " (hsa:27145); (R-HSA-9013405)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "11237011;11784792;12577064;17064668;17916560;22665057;23087206;23096567;23481700;24102721;25418920;25746724;27481945;27852748;27920218;28228285;28486133;28657654;28832583;28904123;28947137;29393594;29485866;29557506;29776664;30315122;30379171;30410026;30620550;31154438;31217245;31530632;31844290;31848261;31871319;32357974;33298915;33592498;33633747;34000624;35051231;35580925;36943452;37163662;37938771;8945468", "class_list": "", "function": "Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects., [RefSeq, PubMed]; By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A., [UniProtKB, UniProtKB]; Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma., [RefSeq, PubMed]; Data show that RhoD binds the actin nucleation-promoting factor WHAMM (WASp homologue associated with actin Golgi membranes and microtubules), as well as the related filamin A-binding protein FILIP1., [RefSeq, PubMed]; Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly., [RefSeq, PubMed]; This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RMU6;Q5VUL6;Q86TC3;Q8N8B9;Q96SK6;Q9NVI8;Q9ULE5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:1903119 protein localization to actin cytoskeleton;GO:0099010 modification of postsynaptic structure", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q7Z7B0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1E6-1", "uniprot_id": [ { "id": "FXL14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1E6", "type": "external" } ], "mass": 45886.0, "length": 418, "protein_name": "F-box/LRR-repeat protein 14", "gene_name": "FBXL14", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 14 isoform 1", "refseq_ac": [ { "id": "NP_689654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689654", "type": "external" } ], "gene_names_uniprotkb": "FBXL14; FBL14", "gene_names_refseq": "FBXL14; Fbl14", "protein_names_uniprotkb": "F-box/LRR-repeat protein 14; F-box and leucine-rich repeat protein 14", "protein_names_refseq": "F-box/LRR-repeat protein 14 isoform 1; F-box/LRR-repeat protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:144699); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 152, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;19955572;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23271734;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25880248;26344709;26375851;26460955;26632597;26811146;26906416;26992070;27030794;27222660;27565346;28115426;28218747;28904123;29153394;29493099;30315122;30524438;30610225;31154438;31222486;31530632;31844290;32005965;32265295;32284348;32938616;32983136;33444648;33912179;33981976;34087483;34285182;35051231;37938771;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Data show that Twist1 small interfering RNA prevents hypoxia-induced Fbxl14 down-regulation and SNAIL1 stabilization., [RefSeq, PubMed]; Loss of FBXL14 promotes mesenchymal shift and radioresistance of non-small cell lung cancer by TWIST1 stabilization. Publication Status: Online-Only, [RefSeq, PubMed]; Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin-protein ligase complexes. The SCF(FBXL14) complex acts by mediating ubiquitination and subsequent degradation of SNAI1., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "Q8N1E6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAT2-1", "uniprot_id": [ { "id": "FGFP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAT2", "type": "external" } ], "mass": 27590.0, "length": 258, "protein_name": "Fibroblast growth factor-binding protein 3", "gene_name": "FGFBP3", "organism": "Human", "refseq_name": "fibroblast growth factor-binding protein 3 precursor", "refseq_ac": [ { "id": "NP_689642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689642", "type": "external" } ], "gene_names_uniprotkb": "FGFBP3; C10orf13; PSEC0101", "gene_names_refseq": "C10orf13; FGF-BP3; FGFBP3", "protein_names_uniprotkb": "Fibroblast growth factor-binding protein 3; FGF-BP3; FGF-binding protein 3; FGFBP-3", "protein_names_refseq": "FGF-binding protein 3; FGFBP-3; fibroblast growth factor-binding protein 3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:143282); (R-HSA-190377)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10.1038/emboj.2013.79;11294897;11509569;1379698;15806171;15863029;16303743;16324873;1656221;16597617;1697263;18669637;1885605;23584533;26758079;32350084;34171305;35251023;8622701", "class_list": "", "function": "Heparin-binding protein which binds to FGF2, prevents binding of FGF2 to heparin and probably inhibits immobilization of FGF2 on extracellular matrix glycosaminoglycans, allowing its release and subsequent activation of FGFR signaling which leads to increased vascular permeability., [UniProtKB, PubMed]; The FGF binding domain and the heparin binding domain are necessary for the hBP3 interaction with endogenous FGF and the activation of FGFR signaling in vivo, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RD68;Q8NBN0", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0019838 growth factor binding;GO:0017134 fibroblast growth factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0043117 positive regulation of vascular permeability;GO:0045743 positive regulation of fibroblast growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8TAT2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WW38-1", "uniprot_id": [ { "id": "FOG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WW38", "type": "external" } ], "mass": 128159.0, "length": 1151, "protein_name": "Zinc finger protein ZFPM2", "gene_name": "ZFPM2", "organism": "Human", "refseq_name": "zinc finger protein ZFPM2 isoform 1", "refseq_ac": [ { "id": "NP_036214", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036214", "type": "external" } ], "gene_names_uniprotkb": "ZFPM2; FOG2; ZNF89B", "gene_names_refseq": "DIH3; FOG2; PRDM19; SRXY9; ZC2HC11B; ZFPM2; ZNF89B; hFOG-2", "protein_names_uniprotkb": "Zinc finger protein ZFPM2; FOG-2; Friend of GATA 2; Friend of GATA protein 2; Zinc finger protein 89B; Zinc finger protein multitype 2; hFOG-2", "protein_names_refseq": "FOG-2; Friend of GATA2; PR/SET domain 19; friend of GATA 2; friend of GATA protein 2; transcription factor GATA4, modulator of; zinc finger protein 89B; zinc finger protein ZFPM2 isoform 1; zinc finger protein ZFPM2; zinc finger protein, multitype 2", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); tricuspid atresia (Disease Ontology:DOID:0080169); 46,XY sex reversal 9 (Disease Ontology:DOID:0111770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); double outlet right ventricle (Disease Ontology:DOID:6406); tetralogy of Fallot (Disease Ontology:DOID:6419)", "pathway": " (hsa:23414); (R-HSA-9690406); (R-HSA-983231)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10438528;11042108;11062261;11207191;11237011;11242053;11278460;11744692;11751636;11895428;11950885;12032298;12134158;12427746;14517948;15020713;15247287;15710388;15889150;16054028;16103912;1630448;17027967;17196961;18445271;18452278;19293402;19651622;20530532;20627800;20807224;21412441;218813;22899867;23186163;23226341;24549039;24715725;25505266;26845023;28472341;29557506;30552336;30779550;32157095;32350084;32633364;32938616;33340546;3409321;35051231;35318648;38189150;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9774680;9815658;9927674", "class_list": "", "function": "A Genomic Link From Heart Failure to Atrial Fibrillation Risk: FOG2 Modulates a TBX5/GATA4-Dependent Atrial Gene Regulatory Network., [RefSeq, PubMed]; EphA3 promotes the proliferation of NPC cells through negatively regulating the ability of FOG2., [RefSeq, PubMed]; Long noncoding RNA CCDC26 as a modulator of transcriptional switching between fetal and embryonic globins., [RefSeq, PubMed]; The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2 (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q32MA6;Q9NPL7;Q9NPS4;Q9UNI5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:2000020 positive regulation of male gonad development;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007507 heart development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q8WW38-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96I24-1", "uniprot_id": [ { "id": "FUBP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96I24", "type": "external" } ], "mass": 61640.0, "length": 572, "protein_name": "Far upstream element-binding protein 3", "gene_name": "FUBP3", "organism": "Human", "refseq_name": "far upstream element-binding protein 3", "refseq_ac": [ { "id": "NP_003925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003925", "type": "external" } ], "gene_names_uniprotkb": "FUBP3; FBP3", "gene_names_refseq": "FBP3; FUBP3", "protein_names_uniprotkb": "Far upstream element-binding protein 3; FUSE-binding protein 3", "protein_names_refseq": "FUSE-binding protein 3; far upstream element (FUSE) binding protein 3; far upstream element-binding protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:8939)", "pathway_count": 1, "publication_count": 112, "publication_id_list": "11237011;17081983;17525332;18077418;18452278;18669648;19369195;19651622;19690332;20068231;21654843;22121020;22223895;23186163;23301498;23739916;24275569;24715725;25218447;25418920;25576301;25645385;25810538;25880248;26154972;26375851;26811146;26992070;27291656;27600516;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29237092;29242379;29351928;29393594;29493099;29557506;29632046;29632711;29786170;29789417;30059200;30315122;30429286;30484775;30779550;31092671;31154438;31217245;31222486;31492838;31844290;31848261;32119511;32157095;32203166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34229054;34357683;34725712;34932366;35051231;35083852;35132862;35138101;35254053;35289036;35318648;35513511;35561310;35580925;36215666;36241641;36284347;36478132;37541260;37938771;38253038;38665916;39534244;40596516;40914422;8940189", "class_list": "", "function": "FUBP3 regulates chronic myeloid leukaemia progression through PRC2 complex regulated PAK1-ERK signalling., [RefSeq, PubMed]; Long noncoding RNA CMPK2 promotes colorectal cancer progression by activating the FUBP3-c-Myc axis., [RefSeq, PubMed]; May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression., [UniProtKB]; The redistribution of FBP3 in subcellular compartments was observed after Enterovirus 71 (EV71) infection, and the decreased expression of FBP3 in host neuronal cells markedly inhibited viral replication. The results reveal various host proteins that potentially interact with the EV71 5'UTR in neuronal cells, and study found that FBP3 could serve as a positive regulator in host cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 19, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "A3KFK8;A3KFL0;Q92946;Q9BVB6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0010628 positive regulation of gene expression;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0008298 intracellular mRNA localization", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q96I24-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96ME1-4", "uniprot_id": [ { "id": "FXL18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96ME1", "type": "external" } ], "mass": 78919.0, "length": 718, "protein_name": "F-box/LRR-repeat protein 18", "gene_name": "FBXL18", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 18 isoform 2", "refseq_ac": [ { "id": "NP_079239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079239", "type": "external" } ], "gene_names_uniprotkb": "FBXL18; FBL18", "gene_names_refseq": "FBXL18; Fbl18", "protein_names_uniprotkb": "F-box/LRR-repeat protein 18; F-box and leucine-rich repeat protein 18", "protein_names_refseq": "F-box/LRR-repeat protein 18 isoform 2; F-box/LRR-repeat protein 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:80028); (R-HSA-8854050); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 4, "publication_count": 143, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22306998;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25654763;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27862975;27890708;27920218;27926990;28115426;28218747;28228285;28834231;29153394;30315122;30610225;30833945;31848261;32005965;32161166;32284348;32357974;33444648;34019948;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "FBXL18 plays an oncogenic role through promoting lysine 63-linked ubiquitination of Akt in glioma., [RefSeq, PubMed]; Fbxl18 regulates apoptosis by mediating ubiquitin-dependent proteasomal degradation of the pro-apoptotic protein Fbxl7 that may impact cellular processes involved in cell cycle progression. Publication Status: Online-Only, [RefSeq, PubMed]; Study showed that LRRK2 phosphorylation is required for LRRK2 to bind to Fbxl18, and that this interaction is important for regulating the amount of LRRK2 via ubiquitination of LRRK2 by the SCFFbxl18 ubiquitin ligase and subsequent proteasomal degradation of LRRK2. We also show that LRRK2 can induce caspase 8 mediated cell death and that the degradation of LRRK2 mediated by Fbxl18 can prevent LRRK2-mediated toxicity., [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex., [UniProtKB]; The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R857;B3KTC9;B4DH63;H0Y6I6;Q9BR90;Q9BTC7;Q9HAK7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0042981 regulation of apoptotic process;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q96ME1-4", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYJ0-1", "uniprot_id": [ { "id": "FGFP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYJ0", "type": "external" } ], "mass": 24581.0, "length": 223, "protein_name": "Fibroblast growth factor-binding protein 2", "gene_name": "FGFBP2", "organism": "Human", "refseq_name": "fibroblast growth factor-binding protein 2 precursor", "refseq_ac": [ { "id": "NP_114156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114156", "type": "external" } ], "gene_names_uniprotkb": "FGFBP2; KSP37; PRO1065", "gene_names_refseq": "FGFBP2; HBP17RP; KSP37", "protein_names_uniprotkb": "Fibroblast growth factor-binding protein 2; 37 kDa killer-specific secretory protein; FGF-BP2; FGF-binding protein 2; FGFBP-2; HBp17-RP; HBp17-related protein; Ksp37", "protein_names_refseq": "37 kDa killer-specific secretory protein; FGF-BP2; FGF-binding protein 2; FGFBP-2; HBp17-RP; HBp17-related protein; fibroblast growth factor-binding protein 2 precursor; killer-specific secretory protein of 37 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:83888); (R-HSA-190377)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10.1038/emboj.2013.79;11294897;11342666;11509569;12322897;12975309;1379698;15806171;15863029;16324873;1656221;16597617;1697263;1885605;21079801;23584533;27032399;29557506;30459171;30683112;8622701", "class_list": "", "function": "Results of this study suggest that the expression of Ksp37 gene might be associated with increased susceptibility of individuals with Down syndrome to EBV infections and autoimmune problems., [RefSeq, PubMed]; Results suggest that POLD2 and KSP37 might be potential prognostic biomarkers. Publication Status: Online-Only, [RefSeq, PubMed]; Secreted from NK cells in decidua, elevated at late gestational period., [RefSeq, PubMed]; This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq, Jan 2025]., [RefSeq]; Three overlapping genes (FGFBP2, GFOD1 and MLC1) between two modules could potentially have a role in acute myocardial infarction and have diagnostic potential Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019838 growth factor binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9BYJ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6D8-1", "uniprot_id": [ { "id": "FNDC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6D8", "type": "external" } ], "mass": 25159.0, "length": 234, "protein_name": "Fibronectin type III domain-containing protein 4", "gene_name": "FNDC4", "organism": "Human", "refseq_name": "fibronectin type III domain-containing protein 4 precursor", "refseq_ac": [ { "id": "NP_073734", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073734", "type": "external" } ], "gene_names_uniprotkb": "FNDC4; FRCP1; PRO21134", "gene_names_refseq": "FNDC4; FRCP1", "protein_names_uniprotkb": "Fibronectin type III domain-containing protein 4; Fibronectin type III repeat-containing protein 1", "protein_names_refseq": "fibronectin type III domain-containing protein 4 precursor; fibronectin type III domain-containing protein 4; fibronectin type III repeat-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64838)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "12384288;12975309;19913121;20628086;27066907;29557506;30237853;33392160;34016966;34465884;35051231;35521900;38181585;39173437", "class_list": "", "function": "FNDC4 and FNDC5 reduce SARS-CoV-2 entry points and spike glycoprotein S1-induced pyroptosis, apoptosis, and necroptosis in human adipocytes., [RefSeq, PubMed]; FNDC4 reduces hepatocyte inflammatory cell death via AMPKalpha in metabolic dysfunction-associated steatotic liver disease., [RefSeq, PubMed]; FNDC4 reduces inflammation, proliferation, invasion and migration of rheumatoid synovial cells by inhibiting CCL2/ERK signaling., [RefSeq, PubMed]; Has anti-inflammatory properties. In the colon, acts on macrophages to down-regulate inflammation. May suppress osteoclastogenesis and mature osteoclast resorptive function. In white adipose tissue, decreases local inflammation, via interaction with GPR116. Also required for proper systemic glucose tolerance, specifically sensitizing white adipocytes to insulin and promoting glucose uptake. The insulin sensitizing function in adipose tissue is mediated by interaction with ADGRF5/GPR116 and activation of cAMP signaling., [UniProtKB, UniProtKB]; Irisin and the fibronectin type III domain-containing family: structure, signaling and role in female reproduction. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Orphan GPR116 mediates the insulin sensitizing effects of the hepatokine FNDC4 in adipose tissue. Publication Status: Online-Only, [RefSeq, PubMed]; Reports the cloning, expression and subcellular localization of the related mouse protein., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D6W560", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0071559 response to transforming growth factor beta;GO:0050728 negative regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9H6D8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPG1-1", "uniprot_id": [ { "id": "FZD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPG1", "type": "external" } ], "mass": 76263.0, "length": 666, "protein_name": "Frizzled-3", "gene_name": "FZD3", "organism": "Human", "refseq_name": "frizzled-3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_059108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059108", "type": "external" } ], "gene_names_uniprotkb": "FZD3", "gene_names_refseq": "FZD3; Fz-3", "protein_names_uniprotkb": "Frizzled-3; Fz-3; hFz3", "protein_names_refseq": "frizzled 3, seven transmembrane spanning receptor; frizzled family receptor 3; frizzled homolog 3; frizzled-3 isoform 1 precursor", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:7976); (R-HSA-373080); (R-HSA-4086398); (R-HSA-4086400); (R-HSA-4608870)", "pathway_count": 5, "publication_count": 143, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10380924;10391246;10391247;10395542;10488343;10588714;10698942;10777564;10777673;10858654;10862746;10873558;11015615;11030334;11101902;11237011;11297558;11358862;11407985;11563835;11751577;11779461;12015605;12015986;12086864;12098667;12134165;12471263;12482967;12533515;12556497;12559132;12724779;12729560;12839624;12975316;14636582;14642436;14704854;14977528;15143170;15169958;15340161;15494017;15498814;15501440;15545263;15608632;15611108;15936275;15937478;16116452;16280981;16495441;16602827;16687519;16723543;16880514;16920709;16971168;17021034;17130287;17373907;17426020;17433286;17627283;17684012;18162551;18215320;18256687;18456304;18488142;18719708;18798527;18801728;19177143;19365405;19379695;19523939;19530173;19536106;19589360;19851316;20004982;20006983;20803696;20940229;20966082;21118996;21316585;21903638;21983142;22045688;22773843;22941947;23109420;23140627;23140633;23144463;23151663;23256519;23396967;23416699;23535009;23632248;23821037;23904219;24190977;26590425;28228285;2841328;30315122;31844290;32938616;32966694;33592498;33609235;33936100;34357683;34561969;35051231;3616618;36843499;38348712;39094673;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337;9073455;9389482;9674432;9716412", "class_list": "", "function": "FZD3 regulates the viability, apoptosis, and extracellular matrix degradation of vaginal wall fibroblasts in pelvic organ prolapse via the Wnt signaling pathway., [RefSeq, PubMed]; Frizzled-3 suppression overcomes multidrug chemoresistance by Wnt/beta-catenin signaling pathway inhibition in hepatocellular carcinoma cells., [RefSeq, PubMed]; MiR-340 regulates the growth and metabolism of renal cell carcinoma cells by targeting frizzled class receptor 3., [RefSeq, PubMed]; Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women., [RefSeq, PubMed]; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G proteins. Activation by Wnt5A stimulates PKC activity via a G protein-dependent mechanism. Involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Plays a role in controlling early axon growth and guidance processes necessary for the formation of a subset of central and peripheral major fiber tracts. Required for the development of major fiber tracts in the central nervous system, including: the anterior commissure, the corpus callosum, the thalamocortical, corticothalamic and nigrostriatal tracts, the corticospinal tract, the fasciculus retroflexus, the mammillothalamic tract, the medial lemniscus, and ascending fiber tracts from the spinal cord to the brain. In the peripheral nervous system, controls axon growth in distinct populations of cranial and spinal motor neurons, including the facial branchimotor nerve, the hypoglossal nerve, the phrenic nerve, and motor nerves innervating dorsal limbs. Involved in the migration of cranial neural crest cells. May also be implicated in the transmission of sensory information from the trunk and limbs to the brain. Controls commissural sensory axons guidance after midline crossing along the anterior-posterior axis in the developing spinal cord in a Wnt-dependent signaling pathway. Together with FZD6, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear. Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle in a beta-catenin-dependent manner (By similarity)., [UniProtKB, UniProtKB]; This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]., [RefSeq]; This study found a significant association between schizophrenia and the FZD3 gene in single nucleotide polymorphisms and haplotype analyses. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; WNT5B promotes the malignant phenotype of non-small cell lung cancer via the FZD3-DVL3-RAC1-PCP-JNK pathway., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 9704, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K615", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0030165 PDZ domain binding;GO:0017147 Wnt-protein binding;GO:0042813 Wnt receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0030182 neuron differentiation;GO:0001942 hair follicle development;GO:0051602 response to electrical stimulus;GO:0060070 canonical Wnt signaling pathway;GO:0060071 Wnt signaling pathway, planar cell polarity pathway", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q9NPG1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UF56-1", "uniprot_id": [ { "id": "FXL17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UF56", "type": "external" } ], "mass": 75695.0, "length": 701, "protein_name": "F-box/LRR-repeat protein 17", "gene_name": "FBXL17", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 17", "refseq_ac": [ { "id": "NP_001156787", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156787", "type": "external" } ], "gene_names_uniprotkb": "FBXL17; FBL17; FBX13; FBXO13", "gene_names_refseq": "FBXL17; FBXO13; Fbl17; Fbx13", "protein_names_uniprotkb": "F-box/LRR-repeat protein 17; F-box and leucine-rich repeat protein 17; F-box only protein 13", "protein_names_refseq": "F-box only protein 13; F-box/LRR-repeat protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:64839); (R-HSA-9708530)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;15855052;18820369;19897490;20200978;24035498;25880248;27234298;28832583;28904123;29242379;29557506;29786170;30190310;30315122;30379171;31154438;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32814905;32938616;33298915;33592498;33968037;34357683;34405274;35051231;36010968;36241641;36284347;37938771;9544839", "class_list": "", "function": "F-box protein 17 (FBXL17) can serve as a therapeutic target and surrogate marker for breast cancer therapy. Erratum:[Cancer Genomics Proteomics. 2010 May-Jun;7(3):171], [RefSeq, PubMed]; Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structural basis for dimerization quality control., [RefSeq, PubMed]; Substrate-recognition component of the SCF(FBXL17) E3 ubiquitin ligase complex, a key component of a quality control pathway required to ensure functional dimerization of BTB domain-containing proteins (dimerization quality control, DQC) (PubMed:30190310). FBXL17 specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition: aberrant BTB dimer are then ubiquitinated by the SCF(FBXL17) complex and degraded by the proteasome (PubMed:30190310). The ability of the SCF(FBXL17) complex to eliminate compromised BTB dimers is required for the differentiation and survival of neural crest and neuronal cells (By similarity). The SCF(FBXL17) complex mediates ubiquitination and degradation of BACH1 (PubMed:24035498, PubMed:30190310). The SCF(FBXL17) complex is also involved in the regulation of the hedgehog/smoothened (Hh) signaling pathway by mediating the ubiquitination and degradation of SUFU, allowing the release of GLI1 from SUFU for proper Hh signal transduction (PubMed:27234298). The SCF(FBXL17) complex mediates ubiquitination and degradation of PRMT1 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1A4E3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0007399 nervous system development;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0014033 neural crest cell differentiation;GO:0016567 protein ubiquitination;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9UF56-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJT9-1", "uniprot_id": [ { "id": "FBXL7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJT9", "type": "external" } ], "mass": 54575.0, "length": 491, "protein_name": "F-box/LRR-repeat protein 7", "gene_name": "FBXL7", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 7 isoform 2", "refseq_ac": [ { "id": "NP_001265246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265246", "type": "external" } ], "gene_names_uniprotkb": "FBXL7; FBL6; FBL7; KIAA0840", "gene_names_refseq": "FBL6; FBL7; FBXL7", "protein_names_uniprotkb": "F-box/LRR-repeat protein 7; F-box and leucine-rich repeat protein 7; F-box protein FBL6/FBL7", "protein_names_refseq": "F-box protein Fbl7; F-box/LRR-repeat protein 7 isoform 2; F-box/LRR-repeat protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:23194); (R-HSA-8854050); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 4, "publication_count": 150, "publication_id_list": "10531035;10535940;10597293;10811609;10878807;10945468;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22306998;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25645385;25654763;25778398;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27600516;28115426;28218735;29153394;29557506;30379171;30610225;31154438;31844290;31848261;32005965;32157095;32284348;32839549;32938616;33444648;34405274;34427826;35051231;35887149;36010968;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "7-Ethoxyrosmanol alleviates hyperglycemia-induced vascular endothelial dysfunction by regulating FBXL7 expression., [RefSeq, PubMed]; Epigenetic silencing of the ubiquitin ligase subunit FBXL7 impairs c-SRC degradation and promotes epithelial-to-mesenchymal transition and metastasis., [RefSeq, PubMed]; FBXL7 Body Hypomethylation Is Frequent in Tumors from the Digestive and Respiratory Tracts and Is Associated with Risk-Factor Exposure. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex (PubMed:25778398). During mitosis, it mediates the ubiquitination and subsequent proteasomal degradation of AURKA, causing mitotic arrest (By similarity). It also regulates mitochondrial function by mediating the ubiquitination and proteasomal degradation of the apoptosis inhibitor BIRC5 (PubMed:25778398, PubMed:28218735)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EGF1;D6RDY7;O94926", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:0016567 protein ubiquitination;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9UJT9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKT6-1", "uniprot_id": [ { "id": "FXL21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKT6", "type": "external" } ], "mass": 49152.0, "length": 434, "protein_name": "Putative F-box/LRR-repeat protein 21", "gene_name": "FBXL21P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FBXL21P; FBL21; FBL3; FBXL21; FBXL3B; FBXL3P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative F-box/LRR-repeat protein 21; F-box and leucine-rich repeat protein 21; F-box and leucine-rich repeat protein 3B; F-box/LRR-repeat protein 3B", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-8951664); (R-HSA-983168); (R-HSA-9932298)", "pathway_count": 3, "publication_count": 133, "publication_id_list": "10531035;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15917222;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23452856;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;29153394;30610225;31844290;32005965;32284348;32937135;33444648;35051231;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Substrate-recognition component of the SCF(FBXL21) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation. The SCF(FBXL21) complex mainly acts in the cytosol and mediates ubiquitination of CRY proteins (CRY1 and CRY2), leading to CRY proteins stabilization. The SCF(FBXL21) complex counteracts the activity of the SCF(FBXL3) complex and protects CRY proteins from degradation. Involved in the hypothalamic suprachiasmatic nucleus (SCN) clock regulating temporal organization of the daily activities (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0042752 regulation of circadian rhythm;GO:0048511 rhythmic process;GO:0043153 entrainment of circadian clock by photoperiod;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q9UKT6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULV1-1", "uniprot_id": [ { "id": "FZD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULV1", "type": "external" } ], "mass": 59881.0, "length": 537, "protein_name": "Frizzled-4", "gene_name": "FZD4", "organism": "Human", "refseq_name": "frizzled-4 precursor", "refseq_ac": [ { "id": "NP_036325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036325", "type": "external" } ], "gene_names_uniprotkb": "FZD4", "gene_names_refseq": "CD344; EVR1; FEVR; FZD4S; FZD4; Fz-4; Fz4; FzE4; GPCR; hFz4", "protein_names_uniprotkb": "Frizzled-4; Fz-4; FzE4; hFz4", "protein_names_refseq": "WNT receptor frizzled-4; frizzled 4, seven transmembrane spanning receptor; frizzled family receptor 4; frizzled homolog 4; frizzled-4 precursor", "tax_id": 9606, "disease": "exudative vitreoretinopathy (Disease Ontology:DOID:0050535); Norrie disease (Disease Ontology:DOID:0060844); exudative vitreoretinopathy 1 (Disease Ontology:DOID:0111412); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:8322); (R-HSA-373080); (R-HSA-4086398); (R-HSA-4608870); (R-HSA-4641263); (R-HSA-5099900); (R-HSA-5340588); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 9, "publication_count": 318, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10097102;10380924;10391246;10391247;10395542;10436022;10488343;10535736;10542231;10544037;10559856;10559861;10559924;10567358;10588714;10613896;10625686;10766823;10769163;10777564;10858654;10983987;11015615;11030334;11071885;11076969;11082044;11231140;11239472;11247302;11297558;11454741;11470803;11516654;11517213;11532990;11563835;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11988742;12015605;12057195;12086608;12086864;12098667;12172548;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12471263;12482967;12556497;12559132;12717448;12724779;12729560;12847086;12944396;12952949;12958364;12975316;1317852;14507768;14555962;14581451;14617351;14622578;14622579;14662753;14704854;14726597;14977528;15035989;15134832;15223780;15252009;15260957;15318165;15339664;1535555;15370539;15473838;15488808;15492824;15494017;15498814;15502812;15502813;15545263;15611108;15649145;15671180;15703209;15728179;15733276;15802264;15895077;15916959;15937478;15981244;16103228;16109882;16159959;16215232;16326391;16357527;16410077;16459302;16460808;16516836;16602827;16687519;16707488;16723738;16798879;16880396;16880514;16903783;16920709;16959974;17018281;17035995;17086209;17093393;17158794;17199046;17267500;17320548;17360967;17400545;17426020;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17684012;17713526;17762867;17765681;17804805;17955262;17978091;18032517;18093523;18166656;18199683;18388313;18456304;1847920;18488142;18775314;18790740;18801728;18819912;18981233;19092055;19140243;19172507;19177143;19287005;19296720;19324841;19379695;19458185;19536106;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19851316;19853559;20033059;20059951;20141357;20211604;20231386;20340138;20351096;20428113;20448150;20495530;20826345;20946875;20947020;20966082;21102408;21118996;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21693646;21727895;21779028;21841790;21883765;21903638;21909076;21927000;21927001;21962517;21983142;21995445;22099461;22118466;22233676;22357968;22484487;22505844;22575959;2257624;22815487;22863004;22895187;22941947;22942912;23140627;23151663;23256519;23297414;23416699;23535009;23536704;23632248;23823722;23847203;23861397;23891661;23904219;24130457;24186068;24384571;24496449;24581490;24680432;24715725;24746795;24789820;24966051;25107275;25303366;25341920;26042225;26403691;26590425;26829388;2841328;2890644;30135577;30237853;30429286;31844290;32161166;33968037;3417785;3616618;37074911;38517429;38558095;38589650;6146630;6950381;7569928;7797535;7822302;7877694;8082781;8198617;8386612;8397094;8524399;8552632;8553074;8557170;8612563;8732687;8770894;8837779;8906787;9064337;9073455;9092476;9100026;9169477;9303539;9389482;9427626;9428629;9635431;9674432;9707618;9723620;9736607;9812899", "class_list": "", "function": "FOXF1 promotes tumor vessel normalization and prevents lung cancer progression through FZD4., [RefSeq, PubMed]; Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations., [RefSeq, PubMed]; Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/beta-Catenin Pathway Activation., [RefSeq, PubMed]; Receptor for Wnt proteins (PubMed:30135577). Most frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes (PubMed:30135577). Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP) (By similarity). In retina, it can be activated by Wnt protein-binding and also by Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulation and stimulation of LEF/TCF-mediated transcriptional programs (By similarity). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues., [UniProtKB, UniProtKB, PubMed]; This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 9, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K9Q3;Q14C97;Q6S9E4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0001540 amyloid-beta binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0009986 cell surface;GO:0030425 dendrite", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0071300 cellular response to retinoic acid;GO:0045893 positive regulation of DNA-templated transcription;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 33.0, "record_id": "Q9ULV1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2I7-1", "uniprot_id": [ { "id": "FYV1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2I7", "type": "external" } ], "mass": 237136.0, "length": 2098, "protein_name": "1-phosphatidylinositol 3-phosphate 5-kinase", "gene_name": "PIKFYVE", "organism": "Human", "refseq_name": "1-phosphatidylinositol 3-phosphate 5-kinase isoform 4", "refseq_ac": [ { "id": "NP_001171471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171471", "type": "external" } ], "gene_names_uniprotkb": "PIKFYVE; KIAA0981; PIP5K3", "gene_names_refseq": "FAB1; HEL37; PIKFYVE; PIP5K3; PIP5K; ZFYVE29", "protein_names_uniprotkb": "1-phosphatidylinositol 3-phosphate 5-kinase; 2.7.1.150; 2.7.11.1; FYVE finger-containing phosphoinositide kinase; PIKfyve; PIPkin-III; Phosphatidylinositol 3-phosphate 5-kinase type III; Phosphatidylinositol 3-phosphate 5-kinase; Serine-protein kinase PIKFYVE; Type III PIP kinase", "protein_names_refseq": "1-phosphatidylinositol 3-phosphate 5-kinase isoform 4; 1-phosphatidylinositol 3-phosphate 5-kinase; PIPkin-III; epididymis luminal protein 37; phosphatidylinositol 3-phosphate 5-kinase type III; phosphatidylinositol-3- phosphate/phosphatidylinositol 5-kinase, type III; phosphoinositide kinase, FYVE finger containing; serine-protein kinase PIKFYVE; type III PIP kinase; zinc finger, FYVE domain containing 29", "tax_id": 9606, "disease": "Fleck corneal dystrophy (Disease Ontology:DOID:0060448); cataract (Disease Ontology:DOID:83); Crohn's disease (Disease Ontology:DOID:8778)", "pathway": " (hsa:200576); (R-HSA-1660514); (R-HSA-1660516); (R-HSA-1660517)", "pathway_count": 4, "publication_count": 150, "publication_id_list": "10101268;10419465;10559940;10567352;10764818;10766823;10805725;10806194;11237011;11279162;11302699;11706043;11716755;11733541;11923287;12270933;12324459;12847286;12890864;14527956;14530284;14659893;14660569;14722070;15144186;15546921;15592455;15716355;15902656;1655747;16787938;17081983;17555535;17556371;17651088;17909029;18452278;18491316;18524850;18669648;18691976;18767875;18950639;19211563;19369195;19413330;19664994;19664995;19668216;20058876;20513353;20934997;21081650;22621786;23086417;23186163;23481700;23818870;24070423;24366607;24715725;25469497;25576301;25645385;25869668;25880248;25892735;26154972;26375851;26496610;26992070;27600516;27623384;27846572;27920218;28063628;28218747;28228285;28352266;28514659;28779020;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29508533;29557506;29584722;29632046;29632711;29769354;29786170;30315122;30429286;30524438;30612035;31154438;31844290;32157095;32221306;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33098764;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33968037;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35561310;35580925;36010968;36284347;37217939;38725096;38743625;38942798;39120584;41639454;7608176;7628435;7761412;8634694;8999962;9148941;9295334;9405935;9516481;9878262", "class_list": "", "function": "(Microbial infection) Required for cell entry of coronaviruses SARS-CoV and SARS-CoV-2, as well as human coronavirus EMC (HCoV-EMC) by endocytosis., [UniProtKB, PubMed]; Coxiella burnetii effector CvpE maintains biogenesis of Coxiella-containing vacuoles by suppressing lysosome tubulation through binding PI(3)P and perturbing PIKfyve activity on lysosomes., [RefSeq, PubMed]; Dual specificity kinase implicated in myriad essential cellular processes such as maintenance of endomembrane homeostasis, and endocytic-vacuolar pathway, lysosomal trafficking, nuclear transport, stress- or hormone-induced signaling and cell cycle progression (PubMed:23086417). The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:17556371, PubMed:41639454). Sole enzyme to catalyze the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form (PtdIns(3,5)P2) (PubMed:17556371, PubMed:41639454). Also catalyzes the phosphorylation of phosphatidylinositol on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 5-phosphate (PtdIns(5)P) (PubMed:22621786). Has serine-protein kinase activity and is able to autophosphorylate and transphosphorylate. Autophosphorylation inhibits its own phosphatidylinositol 3-phosphate 5-kinase activity, stimulates FIG4 lipid phosphatase activity and down-regulates lipid product formation (PubMed:33098764). Involved in key endosome operations such as fission and fusion in the course of endosomal cargo transport (PubMed:22621786). Required for the maturation of early into late endosomes, phagosomes and lysosomes (PubMed:30612035). Regulates vacuole maturation and nutrient recovery following engulfment of macromolecules, initiates the redistribution of accumulated lysosomal contents back into the endosome network (PubMed:27623384). Critical regulator of the morphology, degradative activity, and protein turnover of the endolysosomal system in macrophages and platelets (By similarity). In neutrophils, critical to perform chemotaxis, generate ROS, and undertake phagosome fusion with lysosomes (PubMed:28779020). Plays a key role in the processing and presentation of antigens by major histocompatibility complex class II (MHC class II) mediated by CTSS (PubMed:30612035). Regulates melanosome biogenesis by controlling the delivery of proteins from the endosomal compartment to the melanosome (PubMed:29584722). Essential for systemic glucose homeostasis, mediates insulin-induced signals for endosome/actin remodeling in the course of GLUT4 translocation/glucose uptake activation (By similarity). Synthesis if (PtdIns(3,5)P2) is required for the cGAS-STING pathway (PubMed:41639454). Supports microtubule-based endosome-to-trans-Golgi network cargo transport, through association with SPAG9 and RABEPK (By similarity). Mediates EGFR trafficking to the nucleus (PubMed:17909029)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genome-wide CRISPR screens in spheroid culture reveal that the tumor suppressor LKB1 inhibits growth via the PIKFYVE lipid kinase., [RefSeq, PubMed]; INPP4B promotes PDAC aggressiveness via PIKfyve and TRPML-1-mediated lysosomal exocytosis., [RefSeq, PubMed]; P40 interaction with PIKfyve p40 os demonstrated; PIKfyve interaction and the subsequent PIKfyve-catalyzed p40 phosphorylation anchor p40 to discrete membranes facilitating late endosome-to-TGN transport., [RefSeq, PubMed]; PIKfyve, expressed by CD11c-positive cells, controls tumor immunity. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. The protein plays a key role in cell entry of ebola virus and SARS-CoV-2 by endocytosis Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. [provided by RefSeq, Jul 2021]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 36, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q08AR7;Q08AR8;Q53ST3;Q53T36;Q8N5H0;Q8NB67", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0052810 1-phosphatidylinositol-5-kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0000285 1-phosphatidylinositol-3-phosphate 5-kinase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0045121 membrane raft;GO:0031410 cytoplasmic vesicle;GO:0031902 late endosome membrane", "go_biological_process": "GO:0090382 phagosome maturation;GO:0035556 intracellular signal transduction;GO:0006612 protein targeting to membrane;GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II;GO:0034504 protein localization to nucleus", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q9Y2I7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0AVI2-1", "uniprot_id": [ { "id": "FR1L5_HUMAN", "url": "https://www.uniprot.org/uniprot/A0AVI2", "type": "external" } ], "mass": 237935.0, "length": 2057, "protein_name": "Fer-1-like protein 5", "gene_name": "FER1L5", "organism": "Human", "refseq_name": "fer-1-like protein 5", "refseq_ac": [ { "id": "NP_001280012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280012", "type": "external" } ], "gene_names_uniprotkb": "FER1L5", "gene_names_refseq": "FER1L5", "protein_names_uniprotkb": "Fer-1-like protein 5", "protein_names_refseq": "fer-1-like 5; fer-1-like protein 5", "tax_id": 9606, "disease": "limb-girdle muscular dystrophy (Disease Ontology:DOID:11724)", "pathway": " (hsa:90342)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;19615748;26992070;27600516;28228285;29242379;29557506;33592498;34087483;35051231;36010968;36215666;37217939;39894887", "class_list": "", "function": "Plays a crucial role in male fertility, primarily through its involvement in the acrosome reaction of spermatozoa. Required for the Ca(2+)-activated fusion of the acrosomal membrane with the plasma membrane during the acrosome. May play a role in skeletal muscle cell development by ensuring effective myoblast fusion and facilitating membrane repair., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A096LNV2;Q17RH2;Q6ZU24", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030659 cytoplasmic vesicle membrane;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0007339 binding of sperm to zona pellucida;GO:0046928 regulation of neurotransmitter secretion;GO:0007520 myoblast fusion;GO:0002078 membrane fusion involved in acrosome reaction", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "A0AVI2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGY1-1", "uniprot_id": [ { "id": "FRG2C_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGY1", "type": "external" } ], "mass": 30798.0, "length": 282, "protein_name": "Protein FRG2-like-2", "gene_name": "FRG2C", "organism": "Human", "refseq_name": "protein FRG2-like-2 isoform 1", "refseq_ac": [ { "id": "NP_001118231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001118231", "type": "external" } ], "gene_names_uniprotkb": "FRG2C", "gene_names_refseq": "FRG2C", "protein_names_uniprotkb": "Protein FRG2-like-2; FSHD region gene 2 protein family member C; HSA3-FRG2", "protein_names_refseq": "FSHD region gene 2 family, member C-like; FSHD region gene 2 protein family member C; HSA3-FRG2; protein FRG2-like-2 isoform 1; protein FRG2-like-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100288801)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;15520407;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NGY1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MYZ6-1", "uniprot_id": [ { "id": "FOXO6_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MYZ6", "type": "external" } ], "mass": 50595.0, "length": 492, "protein_name": "Forkhead box protein O6", "gene_name": "FOXO6", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FOXO6", "gene_names_refseq": "", "protein_names_uniprotkb": "Forkhead box protein O6", "protein_names_refseq": "", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (R-HSA-198693); (R-HSA-5674400); (R-HSA-9614399); (R-HSA-9615017)", "pathway_count": 4, "publication_count": 59, "publication_id_list": "10102273;10217147;10358014;10358075;10480625;10485710;10490848;10913147;11237011;11237865;11274386;11715018;11779849;12150915;12172553;12239572;12244303;12524439;12668767;12767043;12857750;14617782;14701673;15169778;15527798;15987244;16114898;16272144;16783365;16840535;17244620;17611497;18256540;18954143;19416966;19644473;20440266;20489726;21536589;22025163;23481700;24028821;24040102;27547294;27846572;28904123;29557506;30379171;30429286;32502341;32938616;34357683;35318648;35580925;9381178;9478990;9812896;9829964;9895304", "class_list": "", "function": "Transcriptional activator., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0008013 beta-catenin binding;GO:0003700 DNA-binding transcription factor activity;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007613 memory;GO:0060999 positive regulation of dendritic spine development", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "A8MYZ6-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZUU3-1", "uniprot_id": [ { "id": "FOXNB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZUU3", "type": "external" } ], "mass": 18625.0, "length": 175, "protein_name": "FOXL2 neighbor protein", "gene_name": "FOXL2NB", "organism": "Human", "refseq_name": "FOXL2 neighbor protein", "refseq_ac": [ { "id": "NP_001035150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035150", "type": "external" } ], "gene_names_uniprotkb": "FOXL2NB; C3orf72", "gene_names_refseq": "C3orf72; FOXL2NB", "protein_names_uniprotkb": "FOXL2 neighbor protein", "protein_names_refseq": "FLJ43329 protein; FOXL2 neighbor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:401089)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;30379171;30620550;31221094;35494241", "class_list": "", "function": "This study presents a new upstream regulator of FOXL2 and demonstrats that this new STAT3-FOXL2 pathway has an important function in HeLaHeLa cell apoptosis, providing new insights regarding the targeting of FOXL2 for cancer prevention and treatment. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NGX0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001650 fibrillar center", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6ZUU3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01225-1", "uniprot_id": [ { "id": "FSHB_HUMAN", "url": "https://www.uniprot.org/uniprot/P01225", "type": "external" } ], "mass": 14700.0, "length": 129, "protein_name": "Follitropin subunit beta", "gene_name": "FSHB", "organism": "Human", "refseq_name": "follitropin subunit beta precursor", "refseq_ac": [ { "id": "NP_000501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000501", "type": "external" } ], "gene_names_uniprotkb": "FSHB", "gene_names_refseq": "FSHB; HH24", "protein_names_uniprotkb": "Follitropin subunit beta; FSH-B; FSH-beta; Follicle-stimulating hormone beta subunit; Follitropin beta chain", "protein_names_refseq": "FSH-B; FSH-beta; follicle stimulating hormone beta subunit; follicle stimulating hormone, beta polypeptide; follitropin subunit beta precursor; follitropin subunit beta; follitropin, beta chain", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 24 without anosmia (Disease Ontology:DOID:0090088); amenorrhea (Disease Ontology:DOID:13938); severe acute respiratory syndrome (Disease Ontology:DOID:2945)", "pathway": " (hsa:2488); (R-HSA-209822); (R-HSA-375281); (R-HSA-418555)", "pathway_count": 4, "publication_count": 101, "publication_id_list": "10391209;11007482;11222739;11501762;11707068;11726197;1191677;12036966;12039074;12045258;12058044;12106601;12180353;1249074;12860470;1333190;13549488;14671004;1517224;15662415;15765929;15769620;15951850;16123088;16313925;16527410;16687412;16834341;1688430;16923326;1709010;17095587;17168849;18044684;18577758;19006286;19105585;1922095;19876791;19929708;20381629;21036126;2121479;2163110;21657270;2244890;2417744;24687066;24692546;2491850;2494176;2553411;2553705;2558651;25811175;26398856;26417854;26774084;2871555;2885163;29443750;29602314;30833991;3127824;31279028;31399091;3139991;3151250;31983287;32226383;32497535;32540603;32618402;32715661;33049737;34987226;34992580;36908159;37909652;38194289;407105;4835136;6085243;6090951;6774759;7215288;7649152;8188646;8220432;8340388;8514797;8672451;8702611;9263355;9271483;9280841;9300077;9417641;9419371;9651336;9764364", "class_list": "", "function": "A speech planning network for interactive language use., [RefSeq, PubMed]; FSHB Genotype Identified as a Relevant Diagnostic Parameter Revealed by Cluster Analysis of Men With Idiopathic Infertility. Publication Status: Online-Only, [RefSeq, PubMed]; Implication of FSHB rs10835638 variant in endometriosis in Brazilian women. Publication Status: Online-Only, [RefSeq, PubMed]; Spontaneous alterations in semen parameters are associated with age, accessory gland function and the FSHB c.-211G>T variant., [RefSeq, PubMed]; The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]; Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways (PubMed:24692546, PubMed:2494176). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 10, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 28, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2TF08;A5JVV3;Q14D61", "ec_number_list": [], "go_molecular_function": "GO:0016913 follicle-stimulating hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0016914 follicle-stimulating hormone complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007179 transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P01225-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C091-1", "uniprot_id": [ { "id": "FREM3_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C091", "type": "external" } ], "mass": 238179.0, "length": 2139, "protein_name": "FRAS1-related extracellular matrix protein 3", "gene_name": "FREM3", "organism": "Human", "refseq_name": "FRAS1-related extracellular matrix protein 3 precursor", "refseq_ac": [ { "id": "NP_001161707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161707", "type": "external" } ], "gene_names_uniprotkb": "FREM3", "gene_names_refseq": "FREM3", "protein_names_uniprotkb": "FRAS1-related extracellular matrix protein 3", "protein_names_refseq": "FRAS1-related extracellular matrix protein 3 precursor; FRAS1-related extracellular matrix protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:166752)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "15345741;22337703;23481700;25576301;25892735;26992070;29557506;31154438;31844290;32387766;32502341;32938616;33298915;33592498;34561969;35051231;35494241;35580925;36284347", "class_list": "", "function": "Extracellular matrix protein which may play a role in cell adhesion., [UniProtKB]; The combined effect of the EHD3 and FREM3 genes may play an important role in developing major depressive disorder., [RefSeq, PubMed]; This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane;GO:0031012 extracellular matrix;GO:0005604 basement membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007160 cell-matrix adhesion;GO:0007154 cell communication;GO:0010669 epithelial structure maintenance", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P0C091-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55316-1", "uniprot_id": [ { "id": "FOXG1_HUMAN", "url": "https://www.uniprot.org/uniprot/P55316", "type": "external" } ], "mass": 52352.0, "length": 489, "protein_name": "Forkhead box protein G1", "gene_name": "FOXG1", "organism": "Human", "refseq_name": "forkhead box protein G1", "refseq_ac": [ { "id": "NP_005240", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005240", "type": "external" } ], "gene_names_uniprotkb": "FOXG1; FKH2; FKHL1; FKHL2; FKHL3; FKHL4; FOXG1A; FOXG1B; FOXG1C", "gene_names_refseq": "BF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3; FKHL4; FOXG1A; FOXG1B; FOXG1C; FOXG1; HBF-1; HBF-2; HBF-3; HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN", "protein_names_uniprotkb": "Forkhead box protein G1; BF-1; BF-2; BF1; BF2; Brain factor 1; Brain factor 2; Forkhead box protein G1A; Forkhead box protein G1B; Forkhead box protein G1C; Forkhead-related protein FKHL1; Forkhead-related protein FKHL2; Forkhead-related protein FKHL3; HFK1; HFK2; HFK3; hBF-2", "protein_names_refseq": "brain factor 1; brain factor 2; forkhead box protein G1; forkhead-like 1; forkhead-like 2; forkhead-like 3; forkhead-like 4; oncogene QIN", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); colitis (Disease Ontology:DOID:0060180); congenital variant of Rett syndrome (Disease Ontology:DOID:0070657); exercise-induced bronchoconstriction (Disease Ontology:DOID:0080821); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); Rett syndrome (Disease Ontology:DOID:1206); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cystitis (Disease Ontology:DOID:1679); asthma (Disease Ontology:DOID:2841); allergic rhinitis (Disease Ontology:DOID:4481); pancreatitis (Disease Ontology:DOID:4989); pulmonary hypertension (Disease Ontology:DOID:6432); central sleep apnea (Disease Ontology:DOID:9220)", "pathway": " (hsa:2290); (R-HSA-9022692); (R-HSA-9617828)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "11884591;11964479;12657635;15084259;15322089;15458387;17046689;17260156;17435750;17994015;18444242;19225110;19331822;19578037;19755996;19820693;21228151;21280142;23580232;23770565;23770587;23918930;24047697;25843800;26239616;26993267;29242379;31217245;31844290;33392160;33592498;34019948;37243590;38056433;38459409;7599184;7959731;9620804", "class_list": "", "function": "Elevated FOXG1 in glioblastoma stem cells cooperates with Wnt/beta-catenin to induce exit from quiescence., [RefSeq, PubMed]; Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders., [RefSeq, PubMed]; FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development., [RefSeq, PubMed]; This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells. [provided by RefSeq, Jul 2020]., [RefSeq]; Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NFY2;P55315;Q14488;Q86XT7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P55316-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12946-1", "uniprot_id": [ { "id": "FOXF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12946", "type": "external" } ], "mass": 40122.0, "length": 379, "protein_name": "Forkhead box protein F1", "gene_name": "FOXF1", "organism": "Human", "refseq_name": "forkhead box protein F1", "refseq_ac": [ { "id": "NP_001442", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001442", "type": "external" } ], "gene_names_uniprotkb": "FOXF1; FKHL5; FREAC1", "gene_names_refseq": "ACDMPV; FKHL5; FOXF1; FREAC1", "protein_names_uniprotkb": "Forkhead box protein F1; FREAC-1; Forkhead-related activator 1; Forkhead-related protein FKHL5; Forkhead-related transcription factor 1", "protein_names_refseq": "FREAC-1; Forkhead, drosophila, homolog-like 5; forkhead box protein F1; forkhead-related activator 1; forkhead-related protein FKHL5; forkhead-related transcription factor 1", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 10 with or without anosmia (Disease Ontology:DOID:0090089); hypertension (Disease Ontology:DOID:10763); persistent fetal circulation syndrome (Disease Ontology:DOID:13042)", "pathway": " (hsa:2294); (R-HSA-9758920); (R-HSA-9762293)", "pathway_count": 3, "publication_count": 32, "publication_id_list": "15699330;16793922;19500772;22227038;23505205;24130169;24810778;25576301;27145217;27846572;27862975;29269046;29296180;29557506;29642003;29789417;31154438;31844290;32387766;32463580;33592498;35051231;35580925;36284347;38290639;38306011;38589650;38898031;39014186;7957066;8626802;9769171", "class_list": "", "function": "ALKBH5 facilitates the progression of infantile hemangioma by increasing FOXF1 expression in a m[6]A-YTHDF2 dependent manner to activate HK-2 signaling., [RefSeq, PubMed]; BARX1 repressed FOXF1 expression and activated Wnt/beta-catenin signaling pathway to drive lung adenocarcinoma., [RefSeq, PubMed]; DNMT1-Mediated the Downregulation of FOXF1 Promotes High Glucose-induced Podocyte Damage by Regulating the miR-342-3p/E2F1 Axis., [RefSeq, PubMed]; FOXF1 promotes tumor vessel normalization and prevents lung cancer progression through FZD4., [RefSeq, PubMed]; Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia. Publication Status: Online-Only, [RefSeq, PubMed]; Probable transcription activator for a number of lung-specific genes., [UniProtKB]; This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAF4;Q5FWE5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0001701 in utero embryonic development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007507 heart development;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q12946-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12947-1", "uniprot_id": [ { "id": "FOXF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12947", "type": "external" } ], "mass": 45993.0, "length": 444, "protein_name": "Forkhead box protein F2", "gene_name": "FOXF2", "organism": "Human", "refseq_name": "forkhead box protein F2", "refseq_ac": [ { "id": "NP_001443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001443", "type": "external" } ], "gene_names_uniprotkb": "FOXF2; FKHL6; FREAC2", "gene_names_refseq": "FKHL6; FOXF2; FREAC-2; FREAC2", "protein_names_uniprotkb": "Forkhead box protein F2; FREAC-2; Forkhead-related activator 2; Forkhead-related protein FKHL6; Forkhead-related transcription factor 2", "protein_names_refseq": "forkhead box protein F2; forkhead-like 6; forkhead-related activator 2; forkhead-related protein FKHL6; forkhead-related transcription factor 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); hypogonadotropic hypogonadism 11 with or without anosmia (Disease Ontology:DOID:0090071); hypertension (Disease Ontology:DOID:10763); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:2295)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "25576301;27846572;29374064;29557506;30429286;31844290;32157095;32387766;32938616;34171305;35051231;35660418;35929169;35994645;36010968;36369237;38847273;7957066;8626802;9722567;9799607", "class_list": "", "function": "FOXF2 Regulates PRUNE2 Transcription in the Pathogenesis of Colorectal Cancer., [RefSeq, PubMed]; FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]., [RefSeq]; FOXF2 oppositely regulates stemness in luminal and basal-like breast cancer cells through the Wnt/beta-catenin pathway., [RefSeq, PubMed]; Probable transcription activator for a number of lung-specific genes (PubMed:8626802). Mediates up-regulation of the E3 ligase IRF2BPL and drives ubiquitination and degradation of CTNNB1 (PubMed:29374064)., [UniProtKB, PubMed, PubMed]; Stroke-associated intergenic variants modulate a human FOXF2 transcriptional enhancer., [RefSeq, PubMed]; Stromal FOXF2 suppresses prostate cancer progression and metastasis by enhancing antitumor immunity. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor FOXF2 promotes the development and progression of pancreatic cancer by targeting MSI2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TGJ1;Q9UQ85", "ec_number_list": [], "go_molecular_function": "GO:0001093 TFIIB-class transcription factor binding;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0048806 genitalia development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q12947-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16595-1", "uniprot_id": [ { "id": "FRDA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16595", "type": "external" } ], "mass": 23135.0, "length": 210, "protein_name": "Frataxin, mitochondrial", "gene_name": "FXN", "organism": "Human", "refseq_name": "frataxin, mitochondrial isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_000135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000135", "type": "external" } ], "gene_names_uniprotkb": "FXN; FRDA; X25", "gene_names_refseq": "CyaY; FARR; FA; FRDA; FXN; X25", "protein_names_uniprotkb": "Frataxin, mitochondrial; 1.16.3.1; Frataxin(81-210); Friedreich ataxia protein; Fxn; d-FXN; m56-FXN; m78-FXN; m81-FXN", "protein_names_refseq": "Friedreich ataxia protein; frataxin, mitochondrial isoform 1 preproprotein; frataxin, mitochondrial", "tax_id": 9606, "disease": "Friedreich ataxia 1 (Disease Ontology:DOID:0111218); Friedreich ataxia (Disease Ontology:DOID:12705); cancer (Disease Ontology:DOID:162); iron metabolism disease (Disease Ontology:DOID:2351); endometriosis (Disease Ontology:DOID:289); glioblastoma (Disease Ontology:DOID:3068); lymphopenia (Disease Ontology:DOID:614); hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:2395); (R-HSA-1268020); (R-HSA-1362409); (R-HSA-9854311); (R-HSA-9865881)", "pathway_count": 5, "publication_count": 130, "publication_id_list": "10428860;10545606;10639125;10732799;10874325;10900192;10903947;11020385;11237011;11823441;12755598;12785837;12886008;12947415;12970193;14726512;15123683;15247478;15254020;15509595;15581888;15641778;15644312;15683237;15952888;15961414;16091420;16185709;16239244;16608849;16847322;16849325;17331979;17468497;17510655;17923681;18174896;18319250;18339629;18425540;18678864;18725397;19409522;19453276;19454487;19628817;19629184;19767391;19962426;20053667;20167786;20522547;20593814;20668094;20873749;21278747;21298097;21750375;21776984;21944046;21987576;22077971;22101253;22306468;22323289;22352884;22416140;22511353;23041349;23168492;23597483;23811401;24385928;24733926;24954416;24954417;24971490;25008109;25315652;25347204;25605331;25948553;26016389;26016518;26697887;26702583;26749241;26758079;27600516;27989128;28001042;28380382;28391595;28673544;28834231;28844695;28887308;29242379;29243944;29314611;29557506;29576242;31020640;31101807;31844290;32157095;32929120;33043033;33298915;33592498;33912179;33936100;33968037;34289383;34357683;34969438;35051231;35154160;35580925;36010968;36284347;38891993;38920668;39023059;8596916;9150176;9241270;9302253;9779809;9989622", "class_list": "", "function": "An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia. Publication Status: Online-Only, [RefSeq, PubMed]; Frataxin Loss Promotes Angiotensin II-Induced Endothelial-to-Mesenchymal Transition., [RefSeq, PubMed]; Functions as an activator of persulfide transfer to the scaffoding protein ISCU as component of the core iron-sulfur cluster (ISC) assembly complex and participates to the [2Fe-2S] cluster assembly (PubMed:12785837, PubMed:24971490). Accelerates sulfur transfer from NFS1 persulfide intermediate to ISCU and to small thiols such as L-cysteine and glutathione leading to persulfuration of these thiols and ultimately sulfide release (PubMed:24971490). Binds ferrous ion and is released from FXN upon the addition of both L-cysteine and reduced FDX2 during [2Fe-2S] cluster assembly (PubMed:29576242). The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity). May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity (PubMed:15641778). May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems (PubMed:11823441, PubMed:12755598). May function as an iron chaperone protein that protects the aconitase [4Fe-4S]2+ cluster from disassembly and promotes enzyme reactivation (PubMed:15247478). May play a role as a high affinity iron binding partner for FECH that is capable of both delivering iron to ferrochelatase and mediating the terminal step in mitochondrial heme biosynthesis (PubMed:15123683, PubMed:16239244)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Modulates the RNA-binding activity of ACO1 (PubMed:20053667). May be involved in the cytoplasmic iron-sulfur protein biogenesis (PubMed:16091420). May contribute to oxidative stress resistance and overall cell survival (PubMed:16608849)., [UniProtKB, PubMed, PubMed, PubMed]; Modulates the RNA-binding activity of ACO1. May be involved in the cytoplasmic iron-sulfur protein biogenesis. May contribute to oxidative stress resistance and overall cell survival., [UniProtKB, UniProtKB]; Plays a role in tight junctions and adherens junctions. Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity., [UniProtKB, UniProtKB]; The Regulation of the Disease-Causing Gene FXN. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MXJ6;C9JJ89;O15545;O95656;Q15294;Q5VZ01", "ec_number_list": [ { "id": "3.4.24.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.64", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "2.1.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.3.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "1.3.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.5.1", "type": "external" }, { "id": "1.1.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.5.-", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "7.1.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.8", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "1.1.98.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.98.-", "type": "external" }, { "id": "2.5.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.39", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" } ], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0051537 2 iron, 2 sulfur cluster binding;GO:0008198 ferrous iron binding;GO:0004322 ferroxidase activity;GO:0034986 iron chaperone activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0099128 mitochondrial [2Fe-2S] assembly complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0043066 negative regulation of apoptotic process;GO:0006879 intracellular iron ion homeostasis;GO:0070301 cellular response to hydrogen peroxide;GO:0016540 protein autoprocessing", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q16595-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16676-1", "uniprot_id": [ { "id": "FOXD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16676", "type": "external" } ], "mass": 46140.0, "length": 465, "protein_name": "Forkhead box protein D1", "gene_name": "FOXD1", "organism": "Human", "refseq_name": "forkhead box protein D1", "refseq_ac": [ { "id": "NP_004463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004463", "type": "external" } ], "gene_names_uniprotkb": "FOXD1; FKHL8; FREAC4", "gene_names_refseq": "FKHL8; FOXD1; FREAC-4; FREAC4", "protein_names_uniprotkb": "Forkhead box protein D1; FREAC-4; Forkhead-related protein FKHL8; Forkhead-related transcription factor 4", "protein_names_refseq": "Forkhead, drosophila, homolog-like 8; forkhead box protein D1; forkhead-like 8; forkhead-related activator 4; forkhead-related protein FKHL8; forkhead-related transcription factor 4", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 96 (Disease Ontology:DOID:0112035); Alzheimer's disease (Disease Ontology:DOID:10652); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:2297)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "15716278;20220067;25502872;27805902;29393594;30429286;31217245;32387766;32938616;35051231;35289036;35579380;35607308;35974001;36057597;37203394;40083705;7957066;8702877", "class_list": "", "function": "Combination of FOXD1 and Plk2: A novel biomarker for predicting unfavourable prognosis of colorectal cancer., [RefSeq, PubMed]; FOXD1 facilitates pancreatic cancer cell proliferation, invasion, and metastasis by regulating GLUT1-mediated aerobic glycolysis. Publication Status: Online-Only, [RefSeq, PubMed]; FOXD1 promotes chemotherapy resistance by enhancing cell stemness in colorectal cancer through beta-catenin nuclear localization., [RefSeq, PubMed]; The Expression and Survival Significance of FOXD1 in Lung Squamous Cell Carcinoma: A Meta-Analysis, Immunohistochemistry Validation, and Bioinformatics Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The level of Smad6s can alter the level of TGF-beta and the subsequent induction of PAI-1 via a FoxD1 transcription site, [RefSeq, PubMed]; This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]., [RefSeq]; Transcription factor involved in regulation of gene expression in a variety of processes, including formation of positional identity in the developing retina, regionalization of the optic chiasm, morphogenesis of the kidney, and neuralization of ectodermal cells (By similarity). Involved in transcriptional activation of PGF and C3 genes (PubMed:27805902)., [UniProtKB, PubMed, UniProtKB]; USP21 promotes self-renewal and tumorigenicity of mesenchymal glioblastoma stem cells by deubiquitinating and stabilizing FOXD1. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q12949", "ec_number_list": [], "go_molecular_function": "GO:0008301 DNA binding, bending;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0032275 luteinizing hormone secretion;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q16676-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100100000000.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5H8C1-1", "uniprot_id": [ { "id": "FREM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5H8C1", "type": "external" } ], "mass": 244154.0, "length": 2179, "protein_name": "FRAS1-related extracellular matrix protein 1", "gene_name": "FREM1", "organism": "Human", "refseq_name": "FRAS1-related extracellular matrix protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001171175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171175", "type": "external" } ], "gene_names_uniprotkb": "FREM1; C9orf143; C9orf145; C9orf154", "gene_names_refseq": "BNAR; C9orf143; C9orf145; C9orf154; FREM1; MOTA; TRIGNO2", "protein_names_uniprotkb": "FRAS1-related extracellular matrix protein 1; Protein QBRICK", "protein_names_refseq": "FRAS1-related extracellular matrix protein 1 isoform 2; FRAS1-related extracellular matrix protein 1; extracellular matrix protein QBRICK", "tax_id": 9606, "disease": "chromosome 9p deletion syndrome (Disease Ontology:DOID:0060732); Fraser syndrome (Disease Ontology:DOID:0090001); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); oculotrichoanal syndrome (MONDO:MONDO:0009560); BNAR syndrome (MONDO:MONDO:0012165); trigonocephaly 2 (MONDO:MONDO:0013774)", "pathway": " (hsa:158326)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;15878328;19732862;19940113;21507892;21931569;25645385;27600516;27862975;28111185;29557506;29688405;30429286;31154438;31844290;32350084;32926405;32983136;33038106;33058542;34087483;35051231;35339895;35580925;37074911;38097983;38253038", "class_list": "", "function": "Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition., [RefSeq, PubMed]; Elevated expression of FREM1 in breast cancer indicates favorable prognosis and high-level immune infiltration status., [RefSeq, PubMed]; Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development., [UniProtKB]; Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly., [RefSeq, PubMed]; High level of plasma TILRR protein is associated with faster HIV seroconversion., [RefSeq, PubMed]; TILRR, an isoform encoded by an alternatively spliced FREM1 mRNA, is an IL-1RI co-receptor that associates with the signaling receptor complex to enhance recruitment of MyD88 and control Ras-dependent amplification of NF-kappaB and inflammatory responses. Erratum:[J Biol Chem. 2010 Jun 4;285(23):18122], [RefSeq, PubMed]; The phenotypic variability reported for different Frem1 mouse mutants suggests that the apparently distinct phenotype of bifid nose and anorectal and renal anomalies syndrome in humans may represent a previously unrecognized variant of Fraser syndrome. Erratum:[Am J Hum Genet. 2009 Nov;85(5):756], [RefSeq, PubMed]; The products of this gene play important roles both in embryonic development and as a modulator of the innate immune responses and inflammation. This gene encodes an extracellular matrix protein that is restricted to the dermis. It is secreted and forms complexes with FREM2 and FRAS1 gene products and is required to maintain epidermal adhesion during embryonic development. Pathogenic mutations in this gene have been implicated in Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and congenital diaphragmatic hernia (CDH). A 715 aa isoform of this gene known as TILRR (Toll-like interleukin-receptor regulator) is expressed from an alternate promoter and is involved in controlling the inflammatory process. The encoded protein is a cell surface proteoglycan that is a co-receptor for IL-1 receptor type I (IL1RI). TILRR increases IL1R1 expression levels and regulates receptor function, leading to amplified activation of NF-kappaB and inflammatory responses. [provided by RefSeq, Apr 2026]., [RefSeq]; Two novel mutations within FREM1 gene in patients with bifid nose. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 97, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 6, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B7ZBX4;Q5VV00;Q5VV01;Q6MZI4;Q8NEG9;Q96LI3", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0016020 membrane;GO:0031012 extracellular matrix;GO:0005604 basement membrane", "go_biological_process": "GO:0097094 craniofacial suture morphogenesis;GO:0007160 cell-matrix adhesion;GO:0007154 cell communication;GO:0010669 epithelial structure maintenance", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q5H8C1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SZK8-1", "uniprot_id": [ { "id": "FREM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SZK8", "type": "external" } ], "mass": 351167.0, "length": 3169, "protein_name": "FRAS1-related extracellular matrix protein 2", "gene_name": "FREM2", "organism": "Human", "refseq_name": "FRAS1-related extracellular matrix protein 2 precursor", "refseq_ac": [ { "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244", "type": "external" } ], "gene_names_uniprotkb": "FREM2", "gene_names_refseq": "CRYPTOP; FRASRS2; FREM2", "protein_names_uniprotkb": "FRAS1-related extracellular matrix protein 2; ECM3 homolog", "protein_names_refseq": "ECM3 homolog; FRAS1 related extracellular matrix protein 2; FRAS1-related extracellular matrix protein 2 precursor", "tax_id": 9606, "disease": "Fraser syndrome (Disease Ontology:DOID:0090001); Fraser syndrome 2 (Disease Ontology:DOID:0111407); isolated cryptophthalmia (Disease Ontology:DOID:0111717)", "pathway": " (hsa:341640)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;15838507;16335952;23090970;24190977;25892735;29688405;29734672;30802441;31530632;31848261;32643034;35640836;37074911;37217939", "class_list": "", "function": "Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia (PubMed:15838507). Required for epidermal adhesion (PubMed:15838507). Involved in the development of eyelids and the anterior segment of the eyeballs (PubMed:29688405, PubMed:30802441)., [UniProtKB, PubMed, PubMed, PubMed]; FREM2 is thus proposed as a novel GB biomarker and a putative biomarker of glioblastoma stem cells. Both FREM2 and SPRY1 are expressed on the surface of the GB cells, while SPRY1 alone was found overexpressed in the cytosol of non-malignant astrocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families., [RefSeq, PubMed]; Our findings extend the spectrum of FREM2 mutations, and provide insights into opportunities for the prenatal diagnosis of isolated cryptophthalmos. Furthermore, our work highlights the importance of the FREM2 protein during the development of eyelids and the anterior segment of the eyeballs, establishes a suitable animal model for studying epithelial reopening during eyelid development and serves as a valuable reference, [RefSeq, PubMed]; Our results showed that p.Arg2167Trp had a weaker effect in interrupting interactions between FREM2 and FREM1 than FS-associated missense mutation p.Glu1972Lys. Overall, our data demonstrate that the homozygous mutation p.Arg2167Trp in FREM2 causes isolated Cryptophthalmos(CO), which will facilitate our better understanding of the molecular mechanisms underlying the disease, [RefSeq, PubMed]; Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis., [RefSeq, PubMed]; This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 118, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 47, "disease_count": 3, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q4QQG1;Q5H9N8;Q5T6Q1;Q6N057;Q6ZSB4;Q7Z305;Q7Z341", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0005604 basement membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007160 cell-matrix adhesion;GO:0007154 cell communication;GO:0010669 epithelial structure maintenance;GO:0001654 eye development", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q5SZK8-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VYV0-1", "uniprot_id": [ { "id": "FOXB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VYV0", "type": "external" } ], "mass": 45581.0, "length": 432, "protein_name": "Forkhead box protein B2", "gene_name": "FOXB2", "organism": "Human", "refseq_name": "forkhead box protein B2", "refseq_ac": [ { "id": "NP_001013757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013757", "type": "external" } ], "gene_names_uniprotkb": "FOXB2", "gene_names_refseq": "FKH4; FOXB2; bA159H20.4", "protein_names_uniprotkb": "Forkhead box protein B2", "protein_names_refseq": "forkhead box protein B2", "tax_id": 9606, "disease": "", "pathway": " (hsa:442425)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;31611391;35051231", "class_list": "", "function": "FOXB2 strongly activates Wnt signaling via the neurogenic ligand WNT7B and imposes a neuronal differentiation program on prostate cancer cells., [RefSeq, PubMed]; Transcription factor., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5VYV0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4E7-1", "uniprot_id": [ { "id": "FTMT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4E7", "type": "external" } ], "mass": 27538.0, "length": 242, "protein_name": "Ferritin, mitochondrial", "gene_name": "FTMT", "organism": "Human", "refseq_name": "ferritin, mitochondrial precursor", "refseq_ac": [ { "id": "NP_803431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_803431", "type": "external" } ], "gene_names_uniprotkb": "FTMT", "gene_names_refseq": "FTMT; MTF", "protein_names_uniprotkb": "Ferritin, mitochondrial; 1.16.3.1", "protein_names_refseq": "ferritin H subunit; ferritin, mitochondrial precursor; mitochondrial ferritin", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:94033); (R-HSA-917937)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10597293;11323407;11953424;12406866;12453412;12504026;12958161;14576842;15001581;15044468;15065877;15201052;15531878;15537541;16143108;16274220;16377569;16407072;16510471;18194661;1946430;19762596;19762597;20550936;2154449;23615448;30626607;30779550;30833945;31848261;32858123;33594527;35008961;35051231;36859279;7983023;8041788;8695634", "class_list": "", "function": "Catalyzes the oxidation of ferrous iron(II) to ferric iron(III) and stores iron in a soluble, non-toxic, readily available form (PubMed:11323407, PubMed:15201052). Important for iron homeostasis (PubMed:11323407, PubMed:15201052). Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation (PubMed:11323407, PubMed:15201052)., [UniProtKB, PubMed, PubMed]; FtMt promotes glioma tumorigenesis and angiogenesis via lncRNA SNHG1/miR-9-5p axis., [RefSeq, PubMed]; FtMt reduces oxidative stress-induced trophoblast cell dysfunction via the HIF-1alpha/VEGF signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Human mitochondrial ferritin expressed in HeLa cells incorporates iron and affects cellular iron metabolism, [RefSeq, PubMed]; In contrast to previously published literature, this study demonstrates that the putative nucleation site does not play an important role in iron uptake or mineralization in H-chain ferritin., [RefSeq, PubMed]; LC3/FtMt Colocalization Patterns Reveal the Progression of FtMt Accumulation in Nigral Neurons of Patients with Progressive Supranuclear Palsy. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial Ferritin Deficiency Promotes Osteoblastic Ferroptosis Via Mitophagy in Type 2 Diabetic Osteoporosis., [RefSeq, PubMed]; RT-PCR studies showed MtF mRNA in circulating reticulocytes of 2 X-linked sideroblastic anemia patients but not controls. Most of the iron in perinuclear mitochondria of ring sideroblasts is in the form of MtF, a specific marker of sideroblastic anemia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0008198 ferrous iron binding;GO:0004322 ferroxidase activity;GO:0008199 ferric iron binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0051604 protein maturation;GO:0006826 iron ion transport", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8N4E7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NAU1-5", "uniprot_id": [ { "id": "FNDC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NAU1", "type": "external" } ], "mass": 28283.0, "length": 260, "protein_name": "Fibronectin type III domain-containing protein 5", "gene_name": "FNDC5", "organism": "Human", "refseq_name": "fibronectin type III domain-containing protein 5 isoform 3 preproprotein", "refseq_ac": [ { "id": "NP_001165411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165411", "type": "external" } ], "gene_names_uniprotkb": "FNDC5; FRCP2", "gene_names_refseq": "FNDC5; FRCP2; irisin", "protein_names_uniprotkb": "Fibronectin type III domain-containing protein 5; Fibronectin type III repeat-containing protein 2", "protein_names_refseq": "fibronectin type III domain-containing protein 5 isoform 3 preproprotein; fibronectin type III repeat-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:252995)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "21266472;22237023;24040023;24114836;26278051;38861537;39154700;39334009;39505986", "class_list": "", "function": "Assessment of brain-derived neurotrophic factor and irisin concentration in children with chronic kidney disease: a pilot study. Publication Status: Online-Only, [RefSeq, PubMed]; Experimental evidence (Western and mass spectrometry) of mouse and human secreted irisin peptide Publication Status: Online-Only, [RefSeq, PubMed]; FNDC5 affects invasion and migration of oral cancer by inhibiting PI3K/Akt/Snail signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Infers non-AUG translation initiation codon for FNDC5 based on evolutionary comparisons; only human has an ''ATA'' at a position that is ''ATG'' in other mammals, [RefSeq, PubMed]; Irisin in thyroid diseases. Review article Erratum:[Clin Chim Acta. 2025 Jan 30;566:120034. doi: 10.1016/j.cca.2024.120034. PMID: 39550251], [RefSeq, PubMed]; Mediates beneficial effects of muscular exercise. Induces browning of white adipose tissue by stimulating UCP1 expression, at least in part, via the nuclear receptor PPARA., [UniProtKB, UniProtKB]; Plasma irisin and the brain-derived neurotrophic factor levels in sedentary subjects: effect of 8-weeks lifestyle intervention. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AA34QVI5;A6NMC9;D3DPQ6;Q6P6D9;Q7Z676", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005778 peroxisomal membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0014850 response to muscle activity;GO:0090336 positive regulation of brown fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NAU1-5", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC99-1", "uniprot_id": [ { "id": "FNDC8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC99", "type": "external" } ], "mass": 35921.0, "length": 324, "protein_name": "Fibronectin type III domain-containing protein 8", "gene_name": "FNDC8", "organism": "Human", "refseq_name": "fibronectin type III domain-containing protein 8", "refseq_ac": [ { "id": "NP_060029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060029", "type": "external" } ], "gene_names_uniprotkb": "FNDC8", "gene_names_refseq": "FNDC8", "protein_names_uniprotkb": "Fibronectin type III domain-containing protein 8", "protein_names_refseq": "fibronectin type III domain-containing protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:54752)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "33392160;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R9G6;Q9UFC2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8TC99-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92837-1", "uniprot_id": [ { "id": "FRAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92837", "type": "external" } ], "mass": 29093.0, "length": 279, "protein_name": "Proto-oncogene FRAT1", "gene_name": "FRAT1", "organism": "Human", "refseq_name": "proto-oncogene FRAT1", "refseq_ac": [ { "id": "NP_005470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005470", "type": "external" } ], "gene_names_uniprotkb": "FRAT1", "gene_names_refseq": "FRAT1", "protein_names_uniprotkb": "Proto-oncogene FRAT1; FRAT-1; Frequently rearranged in advanced T-cell lymphomas 1", "protein_names_refseq": "FRAT-1; FRAT1, WNT signaling pathway regulator; frequently rearranged in advanced T-cell lymphomas 1; proto-oncogene FRAT1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10023); (R-HSA-196299); (R-HSA-4641262)", "pathway_count": 3, "publication_count": 52, "publication_id_list": "10421629;10428961;10481074;10581160;10684251;10698523;11336703;11707456;11738041;11861647;11894125;11955436;12000790;12554650;12556519;14731402;15073180;15084453;15681612;16082208;16341016;16341017;16890161;16982607;17143292;17318175;17529994;17569865;18077588;18339531;18362152;18606139;19061640;19107203;19369195;19619488;19802005;21183070;21183076;21252990;23074275;23256519;29557506;30429286;31848261;34319909;35051231;35059733;36153370;9034327;9482734;9635432", "class_list": "", "function": "FRAT1 promotes the angiogenic properties of human glioblastoma cells via VEGFA., [RefSeq, PubMed]; LncRNA CCAT1 promotes prostate cancer cells proliferation, migration, and invasion through regulation of miR-490-3p/FRAT1 axis., [RefSeq, PubMed]; Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3. May play a role in tumor progression and collaborate with PIM1 and MYC in lymphomagenesis., [UniProtKB, PubMed]; The miR-3648/FRAT1-FRAT2/c-Myc negative feedback loop modulates the metastasis and invasion of gastric cancer cells., [RefSeq, PubMed]; The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JTI1;Q8NE74;Q8TDW9", "ec_number_list": [], "go_molecular_function": "GO:0140678 molecular function inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0060070 canonical Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0046825 regulation of protein export from nucleus", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q92837-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A29-1", "uniprot_id": [ { "id": "FUCT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A29", "type": "external" } ], "mass": 39809.0, "length": 364, "protein_name": "GDP-fucose transporter 1", "gene_name": "SLC35C1", "organism": "Human", "refseq_name": "GDP-fucose transporter 1 isoform b", "refseq_ac": [ { "id": "NP_001138737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138737", "type": "external" } ], "gene_names_uniprotkb": "SLC35C1; FUCT1", "gene_names_refseq": "CDG2C; FUCT1; SLC35C1", "protein_names_uniprotkb": "GDP-fucose transporter 1; Solute carrier family 35 member C1", "protein_names_refseq": "GDP-fucose transporter 1 isoform b; GDP-fucose transporter 1; solute carrier family 35 (GDP-fucose transporter), member C1", "tax_id": 9606, "disease": "congenital disorder of glycosylation type II (Disease Ontology:DOID:0050571); congenital disorder of glycosylation type IIc (Disease Ontology:DOID:0070255)", "pathway": " (hsa:55343); (R-HSA-5619078); (R-HSA-6787639); (R-HSA-727802)", "pathway_count": 4, "publication_count": 46, "publication_id_list": "10393322;11213799;11237011;11326279;11326280;11784306;12056818;12116250;12406889;12753898;1279426;15082721;15607426;15911612;16086588;16455955;18452278;23774504;23922970;24403049;24715725;26992070;27738779;28832583;29242379;29769354;30484775;30573663;31154438;31961998;32157095;32350084;32387766;32938616;32983136;33592498;34185709;34389986;35051231;35580925;38270391;38843991;8889805;8910301;9525924;9603974", "class_list": "glycogene", "function": "Antiporter specific for GDP-l-fucose and depending on the concomitant reverse transport of GMP. Involved in GDP-fucose import from the cytoplasm into the Golgi lumen., [UniProtKB, PubMed, PubMed, PubMed]; Congenital disorders of glycosylation with defective fucosylation., [RefSeq, PubMed]; Down-regulation of SLC35C1 induces colon cancer through over-activating Wnt pathway., [RefSeq, PubMed]; In the GDP-fucose transporter a new single nucleotide deletion produced an open-reading frame shift & polypeptide truncation. Overexpression of the mutant protein in fibroblasts did not rescue fucosylation. The deletion ablated transporter activity., [RefSeq, PubMed]; In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2., [RefSeq, PubMed]; Leukocyte adhesion deficiency II patients display dual defect in functoin ang Golgi expression of FUCT1., [RefSeq, PubMed]; Mutations in the SLC35C1 gene, contributing to significant differences in fucosylation patterns, may underlie the diverse phenotypic manifestations observed in leukocyte adhesion deficiency type II patients., [RefSeq, PubMed]; This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 471, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDB2;Q9BV76;Q9NUJ8", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0005457 GDP-fucose transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0042351 'de novo' GDP-L-fucose biosynthetic process;GO:0042352 GDP-L-fucose salvage;GO:0036085 GDP-fucose import into Golgi lumen;GO:0042350 GDP-L-fucose biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96A29-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTY2-1", "uniprot_id": [ { "id": "FUCO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTY2", "type": "external" } ], "mass": 54067.0, "length": 467, "protein_name": "Plasma alpha-L-fucosidase", "gene_name": "FUCA2", "organism": "Human", "refseq_name": "plasma alpha-L-fucosidase precursor", "refseq_ac": [ { "id": "NP_114409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114409", "type": "external" } ], "gene_names_uniprotkb": "FUCA2; PRO260; PSEC0151", "gene_names_refseq": "FUCA2; dJ20N2.5", "protein_names_uniprotkb": "Plasma alpha-L-fucosidase; 3.2.1.51; Alpha-L-fucosidase 2; Alpha-L-fucoside fucohydrolase 2", "protein_names_refseq": "I+/--L-fucosidase 2; a-L-fucosidase 2; alpha-L-fucoside fucohydrolase 2; fucosidase, alpha-L- 2, plasma; plasma alpha-L-fucosidase precursor; plasma alpha-L-fucosidase; plasma fucosidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:2519); (R-HSA-381426); (R-HSA-6798695); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 131, "publication_id_list": "10.1101/2023.09.13.557529;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;12975309;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;16303743;17047378;17249697;17312271;17985932;19159218;22424782;22898188;23090970;23650620;24190977;2476804;2479552;25418920;25502872;25576301;26091039;26154972;26758079;26992070;27600516;28228285;28467828;28649982;28832583;28904123;29242379;29314611;29493099;29557506;29741879;29786170;30192525;30315122;30429286;30484775;30573663;30833945;31092671;31154438;31222486;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33043033;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34745134;34932366;34935631;35051231;35154160;35251023;35459695;35580925;36010968;36241641;36583336;37074911;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8692836;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "glycogene;glycosylhydrolase", "function": "Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins., [UniProtKB]; Cancer-associated adipocytes release FUCA2 to promote aggressiveness in TNBC. Publication Status: Online-Only, [RefSeq, PubMed]; FUCA2 Is a Prognostic Biomarker and Correlated With an Immunosuppressive Microenvironment in Pan-Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; FUCA2 and TSTA3 expression in gastric cancer: candidate biomarkers of malignant transformation., [RefSeq, PubMed]; This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 540, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "E9PEB6;Q7Z6V1;Q7Z6Y2;Q8NBK4", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0004560 alpha-L-fucosidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:2000535 regulation of entry of bacterium into host cell;GO:0009617 response to bacterium;GO:0016139 glycoside catabolic process;GO:0006004 fucose metabolic process;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9BTY2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C009-1", "uniprot_id": [ { "id": "FOXQ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C009", "type": "external" } ], "mass": 41526.0, "length": 403, "protein_name": "Forkhead box protein Q1", "gene_name": "FOXQ1", "organism": "Human", "refseq_name": "forkhead box protein Q1", "refseq_ac": [ { "id": "NP_150285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150285", "type": "external" } ], "gene_names_uniprotkb": "FOXQ1; HFH1", "gene_names_refseq": "FOXQ1; HFH1", "protein_names_uniprotkb": "Forkhead box protein Q1; HFH-1; HNF-3/forkhead-like protein 1; Hepatocyte nuclear factor 3 forkhead homolog 1", "protein_names_refseq": "HFH-1; HNF-3/forkhead-like protein 1; forkhead box protein Q1; hepatocyte nuclear factor 3 forkhead homolog 1; winged helix/forkhead transcription factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:94234); (R-HSA-9764725)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10655587;11309849;11747606;11912130;12011061;12700765;15542832;17130829;19533653;20418909;20871592;22158034;23466526;25728771;26212009;29393594;29557506;29729076;30524438;30833945;30898548;31848261;33608512;33968037;34171305;35008676;35051231;35138000;35292107;35851744;36010968;38062011;38297082;38432629;38608123;38960057", "class_list": "", "function": "FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM, May 2009]., [RefSeq]; FOXQ1, deubiquitinated by USP10, alleviates sepsis-induced acute kidney injury by targeting the CREB5/NF-kappaB signaling axis., [RefSeq, PubMed]; Nuclear isoform of RAPH1 interacts with FOXQ1 to promote aggressiveness and radioresistance in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PARP1-stabilised FOXQ1 promotes ovarian cancer progression by activating the LAMB3/WNT/beta-catenin signalling pathway., [RefSeq, PubMed]; Plays a role in hair follicle differentiation., [UniProtKB]; The role of transcription factor FOXA1/C2/M1/O3/P1/Q1 in breast cancer., [RefSeq, PubMed]; The tumor suppressor p53 is a negative regulator of the carcinoma-associated transcription factor FOXQ1., [RefSeq, PubMed]; This study demenostrated that the forkhead transcription factor is reduced in skeletal muscle of chronic spinal cord-injured patients., [RefSeq, PubMed]; Transforming growth factor-beta 2 is a transcriptional target for Akt/protein kinase B via this protein, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9NS06", "ec_number_list": [], "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9C009-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00558-1", "uniprot_id": [ { "id": "PGK1_HUMAN", "url": "https://www.uniprot.org/uniprot/P00558", "type": "external" } ], "mass": 44615.0, "length": 417, "protein_name": "Phosphoglycerate kinase 1", "gene_name": "PGK1", "organism": "Human", "refseq_name": "phosphoglycerate kinase 1", "refseq_ac": [ { "id": "NP_000282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000282", "type": "external" } ], "gene_names_uniprotkb": "PGK1; MIG10; PGKA; SW-cl.110", "gene_names_refseq": "HEL-S-68p; MIG10; PGK1; PGKA", "protein_names_uniprotkb": "Phosphoglycerate kinase 1; 2.7.11.1; 2.7.2.3; Cell migration-inducing gene 10 protein; PRP 2; Primer recognition protein 2", "protein_names_refseq": "PRP 2; cell migration-inducing gene 10 protein; epididymis secretory sperm binding protein Li 68p; phosphoglycerate kinase 1; primer recognition protein 2", "tax_id": 9606, "disease": "phosphoglycerate kinase 1 deficiency (Disease Ontology:DOID:0111933); Parkinson's disease (Disease Ontology:DOID:14330); cancer (Disease Ontology:DOID:162); hemolytic anemia (Disease Ontology:DOID:583)", "pathway": " (hsa:5230); (R-HSA-165159); (R-HSA-70171); (R-HSA-70263); (R-HSA-9636667)", "pathway_count": 5, "publication_count": 276, "publication_id_list": "10229653;10714828;11130727;11371164;11506403;11780755;11851336;12093795;12151408;12437512;12524439;12616532;1278465;12965206;12965222;13538944;14654843;14718531;14722102;1547346;15592455;15710582;15755954;1586722;16511037;17081983;17277771;17287340;17322306;17386266;17510057;17517883;17697703;17804405;18212344;18292551;18337460;183598;18372248;18449899;18463139;18497260;18507432;18510355;18613815;18669648;18707149;1871135;18767875;18910716;18910717;18927083;19118303;19415658;19608861;19615748;19651622;2001457;20058876;20068231;20166139;20230923;20381137;21081667;21209280;21406692;21908771;21949678;22219026;22299025;22424782;22544926;22645359;22898188;22980980;23168256;23186163;2324090;23328677;23446454;23506893;23555621;23783831;24275569;2462567;24714562;25502872;25505266;25561175;25567906;25576301;25645385;25648650;25802875;25810538;25961827;25963655;26024233;26154972;26250836;26677959;26758079;26824387;26853435;26942675;26992070;27090790;27452731;27543614;27600516;27846572;27862975;27920218;2793178;2814502;28218747;28228285;2846554;28467828;28514659;28649982;28832583;28855257;28860189;28871256;28904123;29192674;29236692;29242379;29314611;29317506;29331515;29437277;29493099;29508533;29557506;2960695;29632711;29775581;29786170;29789417;2995995;30192525;30315122;30323285;30392930;30397120;30429286;30517626;30524438;30573663;30626607;30779550;30833945;31020640;31154438;31217245;31222486;31530632;31578148;3170585;31844290;31848261;31911580;31937595;31998317;3208766;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;3355497;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34357683;34405274;34433824;34509645;3453121;34725712;34782236;34932366;35051231;35058442;35083852;35138101;35154160;35251023;3529090;35318648;35459695;35561310;35580925;35874702;36010968;36215666;36241641;36284347;36849569;37217939;37938771;38163864;38459513;38471523;38665916;39134530;39192221;40596516;40914422;4413246;4555506;4827367;5009693;5687724;6099325;6188151;6434534;6444721;6451249;6696436;6771269;6933565;6941312;7144574;7150652;7391027;7391028;7440217;7573034;7717389;7825568;7989588;8043870;8117307;8211187;8325892;8447317;8571957;8615693;8645161;8672555;8673469;8786021;9075577;9382095;9428641;9438414;9493266;9585002;9657976;9678974;9744480;9758626", "class_list": "", "function": "Acetylation of PGK1 at lysine 323 promotes glycolysis, cell proliferation, and metastasis in luminal A breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes one of the two ATP producing reactions in the glycolytic pathway via the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate (PubMed:30323285, PubMed:7391028). Both L- and D- forms of purine and pyrimidine nucleotides can be used as substrates, but the activity is much lower on pyrimidines (PubMed:18463139). In addition to its role as a glycolytic enzyme, it seems that PGK1 acts as a polymerase alpha cofactor protein (primer recognition protein) (PubMed:2324090). Acts as a protein kinase when localized to the mitochondrion where it phosphorylates pyruvate dehydrogenase kinase PDK1 to inhibit pyruvate dehydrogenase complex activity and suppress the formation of acetyl-coenzyme A from pyruvate, and consequently inhibit oxidative phosphorylation and promote glycolysis (PubMed:26942675, PubMed:36849569). May play a role in sperm motility (PubMed:26677959)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CircGLIS3 promotes gastric cancer progression by regulating the miR-1343-3p/PGK1 pathway and inhibiting vimentin phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; Generif: Phosphoglycerate kinase is a moonlighting protein that functions as both a glycolytic enzyme and a primer recognition protein of DNA polymerase alpha., [RefSeq, PubMed]; Hypoxia-induced downregulation of PGK1 crotonylation promotes tumorigenesis by coordinating glycolysis and the TCA cycle. Publication Status: Online-Only, [RefSeq, PubMed]; PUM1 and PGK1 are Favorable Housekeeping Genes over Established Biodosimetry-related Housekeeping Genes such as HPRT1, ITFG1, DPM1, MRPS5, 18S rRNA and Others after Radiation Exposure., [RefSeq, PubMed]; Phosphoglycerate kinase is a moonlighting protein that functions as both a glycolytic enzyme and a disulfide reductase., [RefSeq, PubMed]; The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K4W6;B7Z7A9;Q5J7W1;Q6IBT6;Q8NI87", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004618 phosphoglycerate kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0043531 ADP binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0016020 membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0071456 cellular response to hypoxia;GO:0006094 gluconeogenesis;GO:0016525 negative regulation of angiogenesis;GO:0006096 glycolytic process", "synthesized_glycan_count": 0, "hit_score": 28.4, "record_id": "P00558-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P33176-1", "uniprot_id": [ { "id": "KINH_HUMAN", "url": "https://www.uniprot.org/uniprot/P33176", "type": "external" } ], "mass": 109685.0, "length": 963, "protein_name": "Kinesin-1 heavy chain", "gene_name": "KIF5B", "organism": "Human", "refseq_name": "kinesin-1 heavy chain", "refseq_ac": [ { "id": "NP_004512", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004512", "type": "external" } ], "gene_names_uniprotkb": "KIF5B; KNS1; KNS", "gene_names_refseq": "HEL-S-61; KIF5B; KINH; KNS1; KNS; UKHC", "protein_names_uniprotkb": "Kinesin-1 heavy chain; Conventional kinesin heavy chain; UKHC; Ubiquitous kinesin heavy chain", "protein_names_refseq": "conventional kinesin heavy chain; epididymis secretory protein Li 61; kinesin 1 (110-120kD); kinesin heavy chain; kinesin-1 heavy chain; ubiquitous kinesin heavy chain", "tax_id": 9606, "disease": "spinal muscular atrophy (Disease Ontology:DOID:12377); neurodegenerative disease (Disease Ontology:DOID:1289); motor neuron disease (Disease Ontology:DOID:231); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:3799); (R-HSA-2132295); (R-HSA-264876); (R-HSA-5625970); (R-HSA-6811434); (R-HSA-9725370); (R-HSA-983189)", "pathway_count": 7, "publication_count": 408, "publication_id_list": 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"class_list": "", "function": "BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain. Publication Status: Online-Only, [RefSeq, PubMed]; Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner (By similarity). Regulates centrosome and nuclear positioning during mitotic entry. During the G2 phase of the cell cycle in a BICD2-dependent manner, antagonizes dynein function and drives the separation of nuclei and centrosomes (PubMed:20386726). Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity). Through binding with PLEKHM2 and ARL8B, directs lysosome movement toward microtubule plus ends (Probable). Involved in NK cell-mediated cytotoxicity. Drives the polarization of cytolytic granules and microtubule-organizing centers (MTOCs) toward the immune synapse between effector NK lymphocytes and target cells (PubMed:24088571)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0AVB2;Q5VZ85", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005874 microtubule;GO:0016020 membrane", "go_biological_process": "GO:0099641 anterograde axonal protein transport;GO:0042391 regulation of membrane potential;GO:0032230 positive regulation of synaptic transmission, GABAergic;GO:0043268 positive regulation of potassium ion transport;GO:1903078 positive regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 41.7, "record_id": "P33176-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22059-1", "uniprot_id": [ { "id": "OSBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P22059", "type": "external" } ], "mass": 89421.0, "length": 807, "protein_name": "Oxysterol-binding protein 1", "gene_name": "OSBP", "organism": "Human", "refseq_name": "oxysterol-binding protein 1", "refseq_ac": [ { "id": "NP_002547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002547", "type": "external" } ], "gene_names_uniprotkb": "OSBP; OSBP1", "gene_names_refseq": "OSBP1; OSBP", "protein_names_uniprotkb": "Oxysterol-binding protein 1", "protein_names_refseq": "oxysterol-binding protein 1", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:5007); (R-HSA-1660661); (R-HSA-192105)", "pathway_count": 3, "publication_count": 159, "publication_id_list": "10722674;10751414;10802064;10947957;11237011;11278871;11802775;11937514;14685229;14685263;14976195;15063729;15328338;15337768;15746430;16100120;16118219;16571669;16793762;16895911;16959974;17023427;17050692;17081983;17322306;17331073;17355976;17428193;17449912;17591919;17982138;18088087;18165232;18165233;18184806;18318008;18450749;18452278;18669648;18767875;19005213;19233134;19413330;19415658;19416851;19506037;19651622;19664994;19690332;1970801;20058876;20061445;20068231;20110355;20166139;20178991;20182505;20230923;20444975;21285358;21406692;21620961;22517924;22645359;22970244;23180825;23186163;23428468;23481700;23602659;23754960;23830809;24209621;24275569;24569996;24715725;24742681;24782409;25418920;25788259;25892735;26154972;26715851;26768311;26992070;27397612;27846572;27862975;27920218;28063628;28228285;28467828;28510447;28514659;28575652;28649982;28832583;28834231;28904123;28978670;29242379;29314611;29393594;29493099;29508533;29514919;29557506;29563527;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30779550;31092671;31154438;31217245;31844290;31848261;31895563;31998317;32157095;32161166;32350084;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33936100;33968037;34087483;34357683;34561969;35008409;35051231;35409383;35580925;36010968;36241641;36902339;36907437;37224812;37390971;37455011;37938771;39531497;40914422;4339164;4817756;9188692;9312549;9363775;9852097", "class_list": "", "function": "Lipid transporter involved in lipid countertransport between the Golgi complex and membranes of the endoplasmic reticulum: specifically exchanges sterol (cholesterol) with phosphatidylinositol 4-phosphate (PI4P, 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate)), delivering sterol to the Golgi in exchange for PI4P, which is subsequently degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum (PubMed:24209621, PubMed:28978670). Binds cholesterol and a range of oxysterols including 25-hydroxycholesterol (PubMed:15746430, PubMed:17428193). Cholesterol binding promotes the formation of a complex with PP2A and a tyrosine phosphatase which dephosphorylates ERK1/2, whereas 25-hydroxycholesterol causes its disassembly (PubMed:15746430). Regulates cholesterol efflux by decreasing the stability of the relatively short lived ABCA1 protein (an important point of control for cholesterol efflux activity) (PubMed:18450749)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]., [RefSeq]; Oxysterol-Binding Protein: new insights into lipid transport functions and human diseases. Review article, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6P524", "ec_number_list": [], "go_molecular_function": "GO:0008142 oxysterol binding;GO:0019904 protein domain specific binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0032934 sterol binding;GO:0120013 lipid transfer activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006686 sphingomyelin biosynthetic process;GO:0006699 bile acid biosynthetic process;GO:0006869 lipid transport;GO:0035627 ceramide transport;GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P22059-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48147-1", "uniprot_id": [ { "id": "PPCE_HUMAN", "url": "https://www.uniprot.org/uniprot/P48147", "type": "external" } ], "mass": 80700.0, "length": 710, "protein_name": "Prolyl endopeptidase", "gene_name": "PREP", "organism": "Human", "refseq_name": "prolyl endopeptidase", "refseq_ac": [ { "id": "NP_002717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002717", "type": "external" } ], "gene_names_uniprotkb": "PREP; PEP", "gene_names_refseq": "PEP; PE; PREP", "protein_names_uniprotkb": "Prolyl endopeptidase; 3.4.21.26; PE; Post-proline cleaving enzyme", "protein_names_refseq": "dJ355L5.1 (prolyl endopeptidase); post-proline cleaving enzyme; prolyl endopeptidase; prolyl oligopeptidase", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:5550)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "11237011;18606544;19608861;23301498;24714562;24715725;25418920;25505266;25576301;25645385;25880248;25892735;26768311;26992070;27600516;27655845;27862975;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29437277;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30429286;30524438;30779550;30833945;31020640;31844290;31972124;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33392160;33579026;33592498;33691108;33717175;33838285;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34360857;34405274;34725712;34932366;35051231;35138101;35318648;35561310;35580925;36010968;36241641;37938771;38665916;40914422;7588785;7959018;8089089", "class_list": "", "function": "Cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long., [UniProtKB]; DAAM1 and PREP are involved in human spermatogenesis., [RefSeq, PubMed]; Preliminary Investigation on the Involvement of Cytoskeleton-Related Proteins, DAAM1 and PREP, in Human Testicular Disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Prolyl Oligopeptidase Regulates Dopamine Transporter Oligomerization and Phosphorylation in a PKC- and ERK-Independent Manner. Publication Status: Online-Only, [RefSeq, PubMed]; Prolyl oligopeptidase inhibition reduces oxidative stress via reducing NADPH oxidase activity by activating protein phosphatase 2A., [RefSeq, PubMed]; The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N6D4", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0004181 metallocarboxypeptidase activity;GO:0008236 serine-type peptidase activity;GO:0070012 oligopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0002003 angiotensin maturation", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P48147-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PX9-1", "uniprot_id": [ { "id": "PKH4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PX9", "type": "external" } ], "mass": 178367.0, "length": 1627, "protein_name": "Pleckstrin homology domain-containing family G member 4B", "gene_name": "PLEKHG4B", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family G member 4B", "refseq_ac": [ { "id": "NP_443141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443141", "type": "external" } ], "gene_names_uniprotkb": "PLEKHG4B; KIAA1909", "gene_names_refseq": "ARHGEF48; PLEKHG4B", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family G member 4B; PH domain-containing family G member 4B", "protein_names_refseq": "PH domain-containing family G member 4B; pleckstrin homology domain containing, family G (with RhoGef domain) member 4B; pleckstrin homology domain-containing family G member 4B", "tax_id": 9606, "disease": "", "pathway": " (hsa:153478); (R-HSA-9013148)", "pathway_count": 2, "publication_count": 194, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15601624;15611138;15728722;15850391;15897194;16112081;16116428;16184169;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18426980;18653540;18786931;18835169;18838382;18929667;19605563;19934221;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22970203;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24259668;24335996;24352656;24584464;24933155;24996924;25024229;25211221;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26887924;27096001;27145964;27216196;27481945;27555588;27798618;28028151;28196833;28825699;28860633;30061681;30853411;31871319;32203420;33310911;38088892;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9659915;9670022;9829970;9843499;9846874", "class_list": "", "function": "Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP. Plays a role in actin cytoskeletal remodeling in the late stage of cell-cell junction formation by regulating the contractility of actin filaments, which prompts the conversion from 'open' to 'closed' junctions., [UniProtKB, PubMed, PubMed]; This gene encodes a large protein that contains a pleckstrin homology domain and may function as a guanine nucleotide exchange factor. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A1B0GW72", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0098609 cell-cell adhesion;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "Q96PX9-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBK2-1", "uniprot_id": [ { "id": "PRGC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBK2", "type": "external" } ], "mass": 91027.0, "length": 798, "protein_name": "Peroxisome proliferator-activated receptor gamma coactivator 1-alpha", "gene_name": "PPARGC1A", "organism": "Human", "refseq_name": "peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform 1", "refseq_ac": [ { "id": "NP_001317680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317680", "type": "external" } ], "gene_names_uniprotkb": "PPARGC1A; LEM6; PGC1A; PGC1; PPARGC1", "gene_names_refseq": "LEM6; PGC-1(alpha); PGC-1alpha; PGC-1v; PGC1A; PGC1; PPARGC1A; PPARGC1", "protein_names_uniprotkb": "Peroxisome proliferator-activated receptor gamma coactivator 1-alpha; Ligand effect modulator 6; PGC-1-alpha; PPAR-gamma coactivator 1-alpha; PPARGC-1-alpha", "protein_names_refseq": "L-PGC-1alpha; PGC-1-alpha; PPAR gamma coactivator variant form; PPARAGCIalpha; PPARGC-1-alpha; PPARgamma coactivator 1alpha; ligand effect modulator-6; peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform 1", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); cardiomyopathy (Disease Ontology:DOID:0050700); renal fibrosis (Disease Ontology:DOID:0050855); colitis (Disease Ontology:DOID:0060180); abdominal obesity-metabolic syndrome (Disease Ontology:DOID:0060611); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); amblyopia (Disease Ontology:DOID:10376); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); age related macular degeneration (Disease Ontology:DOID:10871); amnestic disorder (Disease Ontology:DOID:10914); heart disease (Disease Ontology:DOID:114); sciatic neuropathy (Disease Ontology:DOID:11446); prediabetes syndrome (Disease Ontology:DOID:11716); nephrotic syndrome (Disease Ontology:DOID:1184); morbid obesity (Disease Ontology:DOID:11981); primary biliary cholangitis (Disease Ontology:DOID:12236); Huntington's disease (Disease Ontology:DOID:12858); cardiovascular system disease (Disease Ontology:DOID:1287); dilated cardiomyopathy (Disease Ontology:DOID:12930); Parkinson's disease (Disease Ontology:DOID:14330); malignant fibrous histiocytoma (Disease Ontology:DOID:1907); melanoma (Disease Ontology:DOID:1909); kidney cancer (Disease Ontology:DOID:263); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); placental insufficiency (Disease Ontology:DOID:3891); hyperglycemia (Disease Ontology:DOID:4195); macular degeneration (Disease Ontology:DOID:4448); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hyperthyroidism (Disease Ontology:DOID:7998); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:10891); (R-HSA-1989781); (R-HSA-2151201); (R-HSA-2151209); (R-HSA-381340); (R-HSA-3899300); (R-HSA-8939902); (R-HSA-9615017); (R-HSA-9707616); (R-HSA-9841922); (R-HSA-9844594); (R-HSA-9854907); (R-HSA-9931509); (R-HSA-9933387)", "pathway_count": 14, "publication_count": 240, "publication_id_list": "10.1101/2023.09.13.557529;10075656;10102273;10198158;10215629;10217147;10358014;10381560;10412986;10425206;10480625;10558993;10572046;10585775;10601328;10643692;10713165;10777541;10835357;10882139;10911365;10913147;11027271;11095972;11267664;11340167;11387216;11477070;11481440;11741533;11779849;11809803;11842083;11872672;12000792;12118000;12130498;12150977;12177166;12213831;12239572;12356737;12374852;12377782;12505311;12511571;12529333;12563009;12582161;12679040;12718889;12738770;12745923;12829629;12923053;1310260;15067378;15130092;15175654;15273253;15632193;15635043;15665827;15684387;15703179;15761026;15766567;15850785;15919796;15958389;15976810;16079181;16079853;16098147;16115867;16380219;16421188;16704985;16728642;16753578;16757475;16783365;16788062;16840535;16890199;16908542;16911507;16972786;17011499;17031457;17050673;17079232;17081986;17099248;17298944;17369852;17437997;17535915;17554339;17609368;17715127;17761950;17786208;17803295;17923681;17942393;17980149;18006707;18037887;18082607;18211901;18215119;18339323;18343819;18488044;18540824;18541707;18680753;18719978;18848529;18931025;19001277;19043829;19088433;19112161;19115207;19172745;19240082;19262508;19356719;19417006;19596686;19615980;19710360;19710929;1971514;19915805;19934321;19951946;19995069;20005308;20098713;20101261;20110263;20176810;20581824;20676127;20817722;21338522;21376232;21451146;21479263;21527249;21536589;21628546;21931630;22009745;22064484;22422618;22467880;22589246;22713328;22883232;23142079;23239344;23403054;23404503;23673342;23836911;23943595;24028821;24040102;24196956;24742694;25114211;25218447;25260729;2539258;25645385;25800734;26091038;26778333;27547294;27600516;27754849;28111073;28363985;29557506;30379171;31748741;32157095;32354867;32433991;32488085;32695117;33329381;3345742;33486096;34298689;35051231;36215666;36241641;38763227;38824126;38888503;38926249;38950713;7629110;7685352;7799916;7892212;8060328;8108407;8156598;8325954;8333869;8402897;8415693;8521497;8521498;8622974;8643605;8647822;8706692;8770873;8887638;8970730;9012850;9062340;9065481;9079689;9144434;9171241;9178750;9286700;9374491;9454824;9744270;9748239;9836620", "class_list": "", "function": "LncRNA Gm20257 alleviates pathological cardiac hypertrophy by modulating the PGC-1alpha-mitochondrial complex IV axis., [RefSeq, PubMed]; MECHANISM OF MICRORNA-218-5P IN MITOCHONDRIAL BIOGENESIS OF SEPSIS-INDUCED ACUTE KIDNEY INJURY BY THE REGULATION OF PGC-1Alpha., [RefSeq, PubMed]; MiR-193b-3p/ PGC-1alpha pathway regulates an insulin dependent anti-inflammatory response in Parkinson's disease., [RefSeq, PubMed]; PGC-1alpha inhibits NLRP3 signaling through transcriptional activation of POP1 to alleviate inflammation and strengthen osteogenic differentiation of lipopolysaccharide-induced human periodontal stem cells., [RefSeq, PubMed]; PGC-1alpha repression dysregulates lipid metabolism and induces lipid droplet accumulation in retinal pigment epithelium. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional coactivator for steroid receptors and nuclear receptors (PubMed:10713165, PubMed:20005308, PubMed:21376232, PubMed:28363985, PubMed:32433991). Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter (PubMed:10713165, PubMed:20005308, PubMed:21376232). Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis (PubMed:10713165, PubMed:20005308, PubMed:21376232). Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism (PubMed:10713165, PubMed:20005308, PubMed:21376232). Acts as a key regulator of gluconeogenesis: stimulates hepatic gluconeogenesis by increasing the expression of gluconeogenic enzymes, and acting together with FOXO1 to promote the fasting gluconeogenic program (PubMed:16753578, PubMed:23142079). Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner (PubMed:23836911). Also involved in the integration of the circadian rhythms and energy metabolism (By similarity). Required for oscillatory expression of clock genes, such as BMAL1 and NR1D1, through the coactivation of RORA and RORC, and metabolic genes, such as PDK4 and PEPCK (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 37, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z406;D6RBF3;G8DM16;I3RTT5;I3RTT6;I3RTT7;I3RTT8;I3RTT9;Q3LIG1;Q4W5M7;Q9UN32", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0031625 ubiquitin protein ligase binding;GO:0031490 chromatin DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016605 PML body;GO:0000785 chromatin", "go_biological_process": "GO:0001659 temperature homeostasis;GO:0006397 mRNA processing;GO:0010628 positive regulation of gene expression;GO:0042594 response to starvation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 24.5, "record_id": "Q9UBK2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05109-1", "uniprot_id": [ { "id": "S10A8_HUMAN", "url": "https://www.uniprot.org/uniprot/P05109", "type": "external" } ], "mass": 10835.0, "length": 93, "protein_name": "Protein S100-A8", "gene_name": "S100A8", "organism": "Human", "refseq_name": "protein S100-A8 isoform b", "refseq_ac": [ { "id": "NP_001306126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306126", "type": "external" } ], "gene_names_uniprotkb": "S100A8; CAGA; CFAG; MRP8", "gene_names_refseq": "60B8AG; CAGA; CFAG; CGLA; CP-10; L1Ag; MA387; MRP8; NIF; P8; S100-A8; S100A8", "protein_names_uniprotkb": "Protein S100-A8; CFAG; Calgranulin-A; Calprotectin L1L subunit; Cystic fibrosis antigen; Leukocyte L1 complex light chain; MRP-8; Migration inhibitory factor-related protein 8; S100 calcium-binding protein A8; Urinary stone protein band A; p8", "protein_names_refseq": "calgranulin A; calprotectin L1L subunit; cystic fibrosis antigen; leukocyte L1 complex light chain; migration inhibitory factor-related protein 8; protein S100-A8 isoform b; protein S100-A8; urinary stone protein band A", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); myocarditis (Disease Ontology:DOID:820)", "pathway": " (hsa:6279); (R-HSA-1236974); (R-HSA-166058); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5668599); (R-HSA-5686938); (R-HSA-6798695); (R-HSA-6799990)", "pathway_count": 9, "publication_count": 230, "publication_id_list": "10026247;10072071;10400704;10455184;10465784;10771424;11090627;11145705;11509636;11544529;11708798;11724772;11960013;12056906;12110890;12138165;12140561;12214235;12297423;12447441;12447442;12626582;12637671;12716910;12724322;12817025;1286667;1326551;14530365;14625308;15299793;15331440;15585605;15591124;15598812;15642721;15824103;15944945;16024789;16213021;16258195;16329988;16439361;16507994;1660188;16636067;16751103;16754682;16762923;16778989;16834340;16855214;16878026;17141195;17485511;17553524;17583407;17726518;17767165;17878161;17878374;17890055;17893200;18070880;18070982;18347018;18354232;18438411;18559343;18669862;18692471;18786929;18829464;18832721;18990700;19087201;19112167;19122197;19217269;19224918;19372727;19451397;19498957;19506249;19509286;19592493;19592497;19810752;19835859;19935766;19935772;20037584;20213444;20305658;2039599;20473308;20485341;20523765;20813901;20956805;20966070;21239714;21487906;21606490;21740066;21871094;21912088;22095980;22153078;22223895;22344226;22363402;22454496;22489132;22747601;22808130;22898188;23276281;23289851;23431180;23446148;23613522;23650620;23783831;23875749;23980663;24316379;24715725;24833748;24840642;25083866;25417112;25502872;25576301;25597447;25673070;25877926;25880347;25892735;26154972;26296369;26374642;26853435;26992070;27397612;27452731;27543614;27558335;27726376;27742543;27862975;28218747;28228285;28467828;28855257;29314611;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30115681;30192525;30315122;30397120;30429286;30524438;30626607;30779550;30833945;31222486;31608988;31844290;32157095;32350084;32373127;32387766;32810439;32938616;32983136;33043033;33091337;33123756;3313057;33141586;33388094;33392160;33968037;34019948;3405210;34078123;34087483;34171305;34185709;34211107;34357683;34509645;34932366;35051231;35154160;35318648;35580925;3561500;36010968;36215666;36241641;36284347;37376412;37938771;38148054;38332909;38665916;38780644;39159863;39391311;7685021;7695842;7849642;8089108;8423249;8619876;8692836;8837778;9008162;9083090;9430229;9804763", "class_list": "glycogene", "function": "(Microbial infection) Upon infection by human coronavirus SARS-CoV-2, may induce expansion of aberrant immature neutrophils in a TLR4-dependent manner., [UniProtKB, PubMed]; Association Between Clinicopathological Parameters and S100A8/A9 Expression According to Smoking History in Patients With Non-small Cell Lung Cancer., [RefSeq, PubMed]; Elevated levels of damage-associated molecular patterns HMGB1 and S100A8/A9 coupled with toll-like receptor-triggered monocyte activation are associated with inflammation in patients with myelofibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; Proteomics of plasma-derived extracellular vesicles reveals S100A8 as a novel biomarker for Alzheimer's disease: A preliminary study., [RefSeq, PubMed]; S100A8 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. It can induce neutrophil chemotaxis and adhesion. Predominantly found as calprotectin (S100A8/A9) which has a wide plethora of intra- and extracellular functions. The intracellular functions include: facilitating leukocyte arachidonic acid trafficking and metabolism, modulation of the tubulin-dependent cytoskeleton during migration of phagocytes and activation of the neutrophilic NADPH-oxidase. Also participates in regulatory T-cell differentiation together with CD69 (PubMed:26296369). Activates NADPH-oxidase by facilitating the enzyme complex assembly at the cell membrane, transferring arachidonic acid, an essential cofactor, to the enzyme complex and S100A8 contributes to the enzyme assembly by directly binding to NCF2/P67PHOX. The extracellular functions involve pro-inflammatory, antimicrobial, oxidant-scavenging and apoptosis-inducing activities. Its pro-inflammatory activity includes recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to pattern recognition receptors such as Toll-like receptor 4 (TLR4) and receptor for advanced glycation endproducts (AGER). Binding to TLR4 and AGER activates the MAP-kinase and NF-kappa-B signaling pathways resulting in the amplification of the pro-inflammatory cascade. Has antimicrobial activity towards bacteria and fungi and exerts its antimicrobial activity probably via chelation of Zn(2+) which is essential for microbial growth. Can induce cell death via autophagy and apoptosis and this occurs through the cross-talk of mitochondria and lysosomes via reactive oxygen species (ROS) and the process involves BNIP3. Can regulate neutrophil number and apoptosis by an anti-apoptotic effect; regulates cell survival via ITGAM/ITGB and TLR4 and a signaling mechanism involving MEK-ERK. Its role as an oxidant scavenger has a protective role in preventing exaggerated tissue damage by scavenging oxidants. Can act as a potent amplifier of inflammation in autoimmunity as well as in cancer development and tumor spread. The iNOS-S100A8/A9 transnitrosylase complex directs selective inflammatory stimulus-dependent S-nitrosylation of GAPDH and probably multiple targets such as ANXA5, EZR, MSN and VIM by recognizing a [IL]-x-C-x-x-[DE] motif; S100A8 seems to contribute to S-nitrosylation site selectivity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Serum S100A8/A9 and MMP-9 levels are elevated in systemic lupus erythematosus patients with cognitive impairment. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]; Usp14 deficiency removes alpha-synuclein by regulating S100A8/A9 in Parkinson's disease. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 108, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic; predictive", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5L3;D3DV37;Q5SY70;Q9UC84;Q9UC92;Q9UCJ0;Q9UCM6", "ec_number_list": [], "go_molecular_function": "GO:0050786 RAGE receptor binding;GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006954 inflammatory response;GO:0010043 response to zinc ion;GO:0018119 peptidyl-cysteine S-nitrosylation;GO:0030307 positive regulation of cell growth;GO:0032496 response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "P05109-1", "record_type": "protein", "filter_code": "0011000.1100111.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7KZF4-1", "uniprot_id": [ { "id": "SND1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7KZF4", "type": "external" } ], "mass": 101997.0, "length": 910, "protein_name": "Staphylococcal nuclease domain-containing protein 1", "gene_name": "SND1", "organism": "Human", "refseq_name": "staphylococcal nuclease domain-containing protein 1", "refseq_ac": [ { "id": "NP_055205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055205", "type": "external" } ], "gene_names_uniprotkb": "SND1; TDRD11", "gene_names_refseq": "SND1; TDRD11; TSN; Tudor-SN; p100", "protein_names_uniprotkb": "Staphylococcal nuclease domain-containing protein 1; 100 kDa coactivator; 3.1.31.1; EBNA2 coactivator p100; Tudor domain-containing protein 11; p100 co-activator", "protein_names_refseq": "EBNA2 coactivator p100; staphylococcal nuclease domain-containing protein 1; testis tissue sperm-binding protein Li 82P; tudor domain-containing protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:27044); (R-HSA-6802952)", "pathway_count": 2, "publication_count": 166, "publication_id_list": "11237011;12234934;12917451;14508492;15592455;15630448;16408927;17081065;17081983;18453631;18491316;18669648;18974108;18991276;19413330;19608861;19651622;19664994;19690332;20068231;20166139;20526349;21424530;21872626;22223895;22424782;22645359;22745804;23186163;23301498;23583981;24135138;24275569;24345920;24714562;24715725;25204415;25418920;25502872;25505266;25576301;25645385;25810538;25880248;25892735;25907612;26024233;26154972;26853435;26992070;27543614;27600516;27846572;27862975;27893789;27920218;28011284;28063628;28218747;28228285;28352266;28510447;28514659;28546213;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30397120;30410026;30429286;30484775;30524438;30573663;30779550;30833945;31154438;31217245;31222486;31530632;31717259;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32645525;32870666;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34405274;34433824;34509645;34561969;34725712;34932366;35008409;35051231;35138101;35154160;35251023;35271349;35318648;35561310;35580925;36010968;36213325;36215666;36241641;36284347;37217939;37794589;37938771;38253038;38433625;38607240;38665916;39276108;40596516;40914422;7651391;9809063", "class_list": "", "function": "(Microbial infection) Functions as a transcriptional coactivator for the Epstein-Barr virus nuclear antigen 2 (EBNA2)., [UniProtKB, PubMed]; (Microbial infection) Promotes SARS-CoV-2 RNA synthesis by binding to negative-sense RNA and the viral protein nsp9., [UniProtKB, PubMed]; A Study on the Binding Mechanism and the Impact of Key Residue Mutations between SND1 and MTDH Peptide through Molecular Dynamics Simulations., [RefSeq, PubMed]; Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs (PubMed:18453631, PubMed:28546213). As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition (PubMed:28546213). Functions as a bridging factor between STAT6 and the basal transcription factor (PubMed:12234934). Plays a role in PIM1 regulation of MYB activity (PubMed:9809063). Functions as a transcriptional coactivator for STAT5 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Hypomethylation-associated LINC00987 downregulation induced lung adenocarcinoma progression by inhibiting the phosphorylation-mediated degradation of SND1., [RefSeq, PubMed]; These findings identify p100 as a novel coactivator for STAT6 and suggest that p100 functions as a bridging factor between STAT6 and the basal transcription machinery., [RefSeq, PubMed]; This gene encodes a transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016]., [RefSeq]; [Effect of Staphylococcal Nuclease and Tudor Domain Containing 1/SLC7A11 on the Occurrence and Development of Osteosarcoma by Inhibiting Ferroptosis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q13122;Q96AG0", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "3.1.31.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.31.1", "type": "external" } ], "go_molecular_function": "GO:1905172 RISC complex binding;GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0004519 endonuclease activity;GO:0004521 RNA endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0042470 melanosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0001649 osteoblast differentiation;GO:0006402 mRNA catabolic process;GO:0031047 regulatory ncRNA-mediated gene silencing;GO:0010564 regulation of cell cycle process", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q7KZF4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100100000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXH5-1", "uniprot_id": [ { "id": "SOCS4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXH5", "type": "external" } ], "mass": 50623.0, "length": 440, "protein_name": "Suppressor of cytokine signaling 4", "gene_name": "SOCS4", "organism": "Human", "refseq_name": "suppressor of cytokine signaling 4", "refseq_ac": [ { "id": "NP_543143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543143", "type": "external" } ], "gene_names_uniprotkb": "SOCS4; SOCS7", "gene_names_refseq": "SOCS4; SOCS7", "protein_names_uniprotkb": "Suppressor of cytokine signaling 4; SOCS-4; SOCS-7; Suppressor of cytokine signaling 7", "protein_names_refseq": "SH2 domain containing SOCS box protein; SOCS-4; SOCS-7; suppressor of cytokine signaling 4; suppressor of cytokine signaling 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:122809); (R-HSA-8939242)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "12504904;12809493;15590694;17997974;19423540;21723253;23034403;26992070;27862975;28228285;28904123;31200002;31398463;31530632;31844290;31848261;32161166;32819588;33633747;33912179;34171305", "class_list": "", "function": "Exosome-mediated miR-9-5p promotes proliferation and migration of renal cancer cells both in vitro and in vivo by targeting SOCS4., [RefSeq, PubMed]; Mechanistic investigations demonstrated that TUSC7 can interact with miR-616 and decrease its expression, thereby upregulating the expression of miR-616's targets SOCS4 (SOCS5)., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. Substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits EGF signaling by mediating the degradation of the Tyr-phosphorylated EGF receptor/EGFR., [UniProtKB, PubMed, PubMed]; SOCS4 expression was lower in T-cell-mediated kidney allograft rejection group compared with non-rejected individuals, [RefSeq, PubMed]; The expression of SOCS5 and its closest homolog SOCS4 is elevated in cells following treatment with EGF, similar to several negative feedback regulators of EGFR whose expression is up-regulated upon receptor activation., [RefSeq, PubMed]; The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The structure of the SOCS4-ElonginC-ElonginB complex reveals a distinct SOCS structural class., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0019221 cytokine-mediated signaling pathway;GO:0007175 negative regulation of epidermal growth factor-activated receptor activity", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8WXH5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43699-1", "uniprot_id": [ { "id": "SIGL6_HUMAN", "url": "https://www.uniprot.org/uniprot/O43699", "type": "external" } ], "mass": 49913.0, "length": 453, "protein_name": "Sialic acid-binding Ig-like lectin 6", "gene_name": "SIGLEC6", "organism": "Human", "refseq_name": "sialic acid-binding Ig-like lectin 6 isoform 4", "refseq_ac": [ { "id": "NP_001171018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171018", "type": "external" } ], "gene_names_uniprotkb": "SIGLEC6; CD33L1; CD33L; OBBP1", "gene_names_refseq": "CD327; CD33L1; CD33L2; CD33L; CDW327; OBBP1; SIGLEC6", "protein_names_uniprotkb": "Sialic acid-binding Ig-like lectin 6; CD33 antigen-like 1; CDw327; OB-BP1; Obesity-binding protein 1; Siglec-6", "protein_names_refseq": "CD33 antigen-like 1; obesity-binding protein 1; sialic acid-binding Ig-like lectin 6 isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:946); (R-HSA-198933)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10428856;10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14702039;14719373;14970179;15034010;15057824;15136729;15155468;15187158;15304001;15489334;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;17580316;18031695;18037897;18055229;18209062;18234675;18593354;18818296;19149696;19359216;19592130;20237496;20730098;21241660;21800138;21841309;21877119;22396535;23089140;23171684;23695528;23874842;23929856;24190977;24305946;25703557;25716998;26284469;26300885;28218747;29437277;30294327;30410026;31848261;32350084;32998819;33298915;35051231;35251023;35406705;35953001;36113626;36359823;37074911;37087495;7531291;7542404;8178173;8995416;9285412;9314561;9465907;9700512;9730896", "class_list": "glycogene", "function": "Elevated trophoblastic Siglec6 contributes to the impairment of vascular endothelial cell functions by downregulating Wnt6/beta-catenin signaling in preeclampsia., [RefSeq, PubMed]; Expression and regulation of Siglec-6 (CD327) on human mast cells and basophils., [RefSeq, PubMed]; Functional and Phenotypic Characterization of Siglec-6 on Human Mast Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Preeclampsia involves changes in the gene expression of SIGLEC6 in placental cytotrophoblasts. Review article, [RefSeq, PubMed]; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface., [UniProtKB]; Siglec-6 Signaling Uses Src Kinase Tyrosine Phosphorylation and SHP-2 Recruitment. Publication Status: Online-Only, [RefSeq, PubMed]; Siglec-6 mediates the uptake of extracellular vesicles through a noncanonical glycolipid binding pocket. Publication Status: Online-Only, [RefSeq, PubMed]; The negative signaling potential of Siglec-6 may have a role in human-specific placental expression, to slow the tempo of the human birth process, [RefSeq, PubMed]; This gene encodes a member of the SIGLEC (sialic acid binding immunoglobulin-like lectin) family of proteins. The encoded transmembrane receptor binds sialyl-TN glycans and leptin. Placental expression of the encoded protein is upregulated in preeclampsia. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 680, "reported_interactions": 0, "missing_score": 9630, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8MV71;B2RTS8;C9JBE5;F8WA78;O15388;O43700", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "O43699-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZRY4-1", "uniprot_id": [ { "id": "RBPS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZRY4", "type": "external" } ], "mass": 22497.0, "length": 209, "protein_name": "RNA-binding protein with multiple splicing 2", "gene_name": "RBPMS2", "organism": "Human", "refseq_name": "RNA-binding protein with multiple splicing 2", "refseq_ac": [ { "id": "NP_919248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_919248", "type": "external" } ], "gene_names_uniprotkb": "RBPMS2", "gene_names_refseq": "RBPMS2", "protein_names_uniprotkb": "RNA-binding protein with multiple splicing 2; RNA binding protein, mRNA processing factor 2", "protein_names_refseq": "RNA binding protein with multiple splicing 2; RNA-binding protein with multiple splicing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:348093)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "22683258;23295309;24860013;25064856;27600516;28832583;29242379;29393594;30429286;31848261;32157095;35137653", "class_list": "", "function": "DNA methylation of RNA-binding protein for multiple splicing 2 functions as diagnosis biomarker in gastric cancer pathogenesis and its potential clinical significance., [RefSeq, PubMed]; RBPMS2 is up-regulated in Gastrointestinal stromal tumors compared to normal adult gastrointestinal tissues, indicating that RBPMS2 might represent a new diagnostic marker for GISTs and a potential target for cancer therapy., [RefSeq, PubMed]; RBPMS3 transcripts are up-regulation in colons of patients with chronic psuedo obstruction syndrome., [RefSeq, PubMed]; RNA-binding protein involved in the regulation of smooth muscle cell differentiation and proliferation in the gastrointestinal system (PubMed:25064856). Binds NOG mRNA, the major inhibitor of the bone morphogenetic protein (BMP) pathway. Mediates an increase of NOG mRNA levels, thereby contributing to the negative regulation of BMP signaling pathway and promoting reversible dedifferentiation and proliferation of smooth muscle cells (By similarity). Acts as a pre-mRNA alternative splicing regulator (By similarity). Mediates ACTN1 and FLNB alternative splicing (By similarity). Likely binds to mRNA tandem CAC trinucleotide or CA dinucleotide motifs (PubMed:24860013)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene is a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway. [provided by RefSeq, Aug 2016]., [RefSeq]; The study shows that RBPMS2 homodimerizes through a particular sequence motif located in its RNA recognition motif domain., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RRG0", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0048661 positive regulation of smooth muscle cell proliferation;GO:0030514 negative regulation of BMP signaling pathway;GO:0051151 negative regulation of smooth muscle cell differentiation;GO:0000381 regulation of alternative mRNA splicing, via spliceosome;GO:0048557 embryonic digestive tract morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6ZRY4-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92804-1", "uniprot_id": [ { "id": "RBP56_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92804", "type": "external" } ], "mass": 61830.0, "length": 592, "protein_name": "TATA-binding protein-associated factor 2N", "gene_name": "TAF15", "organism": "Human", "refseq_name": "TATA-binding protein-associated factor 2N isoform 2", "refseq_ac": [ { "id": "NP_003478", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003478", "type": "external" } ], "gene_names_uniprotkb": "TAF15; RBP56; TAF2N", "gene_names_refseq": "Npl3; RBP56; TAF15; TAF2N; TAFII68", "protein_names_uniprotkb": "TATA-binding protein-associated factor 2N; 68 kDa TATA-binding protein-associated factor; RNA-binding protein 56; TAF(II)68; TAFII68", "protein_names_refseq": "RBP56/CSMF fusion; TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56); TATA box-binding protein-associated factor 2N (RNA-binding protein 56); TATA-binding protein-associated factor 2N isoform 2; TBP-associated factor 15", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 6 (Disease Ontology:DOID:0060198); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); chondrosarcoma (Disease Ontology:DOID:3371); frontotemporal dementia (Disease Ontology:DOID:9255)", "pathway": " (hsa:8148); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-674695); (R-HSA-6804756); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 10, "publication_count": 170, "publication_id_list": "10024882;10199401;10435622;10500146;10570149;10602519;10604467;10673500;10673501;10710310;10723029;10884347;11237011;11239457;11433015;11447225;11486021;11511362;11546806;11551930;11739720;11740489;11780126;11784853;11859374;11884399;12064478;12359745;12393879;12676794;12702766;12851404;12914926;1310361;14702041;15053879;15489290;15866171;16322561;17108107;17349958;17525332;17591690;18077418;18452278;18490454;18669648;19121998;19124016;1939271;19608861;19690332;19965871;20068231;20959462;21256132;21317932;21406692;22065782;23000554;23186163;23481700;23485397;23555621;23676219;24055347;24129315;24145406;24275569;2449431;24715725;24874608;25576301;25645385;25810538;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27862975;27893789;27920218;28218747;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30397120;30429286;30444036;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31611695;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33214551;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34932366;35051231;35083852;35318648;35561310;35580925;36241641;36284347;36581221;36963488;37217939;37938771;38226841;38811189;39990658;7151173;7601352;7660122;7660129;7660130;8156590;8330735;8370526;8465201;8490964;8890175;8946909;8954779;9256425;9353262;9405375;9450929;9489704;9660765;9795213;9925639", "class_list": "", "function": "CircRNA TATA-box binding protein associated factor 15 acts as an oncogene to facilitate bladder cancer progression through targeting miR-502-5p/high mobility group box 3., [RefSeq, PubMed]; CircZNF532 promotes endothelial-to-mesenchymal transition in diabetic retinopathy by recruiting TAF15 to stabilize PIK3CD., [RefSeq, PubMed]; Missense mutations of TAF-15, an RNA-binding protein, were found in patients with amyotrophic lateral sclerosis, and gene conferred neurodegeneration when expressend in Drosophila. Erratum:[Proc Natl Acad Sci U S A. 2023 Jan 3;120(1):e2220845120. doi: 10.1073/pnas.2220845120. PMID: 36577079], [RefSeq, PubMed]; RNA and ssDNA-binding protein that may play specific roles during transcription initiation at distinct promoters. Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Can enter the preinitiation complex together with the RNA polymerase II (Pol II)., [UniProtKB, PubMed, PubMed]; The transcription factor gene CIZ/NMP4 is recurrently involved in acute leukemia through fusion with either EWSR1 or TAF15., [RefSeq, PubMed]; This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R837;Q86X94;Q92751", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0003730 mRNA 3'-UTR binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0048255 mRNA stabilization;GO:0045893 positive regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "Q92804-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0A6-1", "uniprot_id": [ { "id": "RNF32_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0A6", "type": "external" } ], "mass": 41516.0, "length": 362, "protein_name": "RING finger protein 32", "gene_name": "RNF32", "organism": "Human", "refseq_name": "RING finger protein 32 isoform a", "refseq_ac": [ { "id": "NP_001171925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171925", "type": "external" } ], "gene_names_uniprotkb": "RNF32; FKSG33; HSD15", "gene_names_refseq": "FKSG33; HSD15; LMBR2; RNF32", "protein_names_uniprotkb": "RING finger protein 32", "protein_names_refseq": "RING finger protein 32 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:140545)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11230166;11237011;11890671;28228285;29557506;30315122;31844290;31998317;32938616;34211107;35051231;35580925", "class_list": "", "function": "May play a role in sperm formation., [UniProtKB, PubMed]; Molecular cloning of a RING domain protein expressed during sperm formation, [RefSeq, PubMed]; The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6FIB3;Q6X7T4;Q8N6V8;Q8TDG0;Q96BM5;Q9Y6U1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005768 endosome;GO:0005829 cytosol;GO:0016235 aggresome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H0A6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYQ9-1", "uniprot_id": [ { "id": "ZCH14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYQ9", "type": "external" } ], "mass": 100042.0, "length": 949, "protein_name": "Zinc finger CCHC domain-containing protein 14", "gene_name": "ZCCHC14", "organism": "Human", "refseq_name": "zinc finger CCHC domain-containing protein 14", "refseq_ac": [ { "id": "NP_055959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055959", "type": "external" } ], "gene_names_uniprotkb": "ZCCHC14; KIAA0579", "gene_names_refseq": "BDG-29; BDG29; ZCCHC14", "protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 14; BDG-29", "protein_names_refseq": "zinc finger CCHC domain-containing protein 14; zinc finger, CCHC domain containing 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:23174)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16959974;19413330;25645385;25892735;26992070;27600516;27997041;28657654;28834231;29557506;29789417;31646585;31801065;32157095;32387766;32451488;32488085;32938616;33298915;33345444;33981976;34019948;34087483;34171305;35051231;35254053;35318648;35494241;35580925;35867748;36010968;36215666;36241641;36284347;36804426;37541260;37938771;38501662;38665916;39531497;39534244", "class_list": "", "function": "A Genome-wide CRISPR Screen Identifies ZCCHC14 as a Host Factor Required for Hepatitis B Surface Antigen Production., [RefSeq, PubMed]; Biochemical analysis of the host factor activity of ZCCHC14 in hepatitis A virus replication., [RefSeq, PubMed]; CircRNA-ZCCHC14 affects the chondrogenic differentiation ability of peripheral blood-derived mesenchymal stem cells by regulating GREM1 through miR-181a. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma concentration of ZCCHC14 contributes to prognostic efficacy in intracerebral hemorrhage patients., [RefSeq, PubMed]; The ZCCHC14/TENT4 complex is required for hepatitis A virus RNA synthesis., [RefSeq, PubMed]; Viral hijacking of the TENT4-ZCCHC14 complex protects viral RNAs via mixed tailing., [RefSeq, PubMed]; ZCCHC14 expression is associated with small vessel disease., [RefSeq, PubMed]; ZCCHC14 regulates proliferation and invasion of non-small cell lung cancer through the MAPK-P38 signalling pathway., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "D3DUN1;O60324;Q3MJD8;Q9UFP0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q8WYQ9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14CM0-1", "uniprot_id": [ { "id": "FRPD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14CM0", "type": "external" } ], "mass": 144379.0, "length": 1322, "protein_name": "FERM and PDZ domain-containing protein 4", "gene_name": "FRMPD4", "organism": "Human", "refseq_name": "FERM and PDZ domain-containing protein 4 isoform e", "refseq_ac": [ { "id": "NP_055543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055543", "type": "external" } ], "gene_names_uniprotkb": "FRMPD4; KIAA0316; PDZD10; PDZK10", "gene_names_refseq": "FRMPD4; MRX104; PDZD10; PDZK10; XLID104", "protein_names_uniprotkb": "FERM and PDZ domain-containing protein 4; PDZ domain-containing protein 10; PSD-95-interacting regulator of spine morphogenesis; Preso", "protein_names_refseq": "FERM and PDZ domain-containing protein 4 isoform e; PDZ domain-containing protein 10; PSD-95-interacting FERM and PDZ domain protein; PSD-95-interacting regulator of spine morphogenesis; Preso", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 104 (Disease Ontology:DOID:0112018); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9758)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;19118189;19913121;20628086;25644381;25664792;26992070;28411811;29557506;30379171;32938616;33216857;34171305;35051231;36010968;37330374;41350704", "class_list": "", "function": "Investigation of FRMPD4 variants associated with X-linked epilepsy., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Preso positively regulates spine density through its interaction with the synaptic plasma membrane, actin filaments, PSD-95, and the betaPix-based Rac1 signaling pathway., [RefSeq, PubMed]; Structure of the FERM domain of a neural scaffold protein FRMPD4 implicated in X-linked intellectual disability., [RefSeq, PubMed]; This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K0X9;O15032", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0043197 dendritic spine;GO:0032991 protein-containing complex;GO:0098978 glutamatergic synapse;GO:0014069 postsynaptic density", "go_biological_process": "GO:0051835 positive regulation of synapse structural plasticity;GO:0098974 postsynaptic actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q14CM0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75152-1", "uniprot_id": [ { "id": "ZC11A_HUMAN", "url": "https://www.uniprot.org/uniprot/O75152", "type": "external" } ], "mass": 89131.0, "length": 810, "protein_name": "Zinc finger CCCH domain-containing protein 11A", "gene_name": "ZC3H11A", "organism": "Human", "refseq_name": "zinc finger CCCH domain-containing protein 11A isoform 1", "refseq_ac": [ { "id": "NP_001306167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306167", "type": "external" } ], "gene_names_uniprotkb": "ZC3H11A; KIAA0663; ZC3HDC11A", "gene_names_refseq": "ZC3H11A; ZC3HDC11A", "protein_names_uniprotkb": "Zinc finger CCCH domain-containing protein 11A", "protein_names_refseq": "zinc finger CCCH domain-containing protein 11A isoform 1; zinc finger CCCH domain-containing protein 11A; zinc finger CCCH-type domain containing 11A", "tax_id": 9606, "disease": "", "pathway": " (hsa:9877); (R-HSA-159236); (R-HSA-72187)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "10228171;10323864;10489353;10668806;11073998;11237011;11256625;11259411;11259602;11579093;11739738;11756420;11979277;12093754;12871933;15998806;16314397;16565220;16964243;17000901;17081983;17190602;17287340;17525332;17984224;18364396;18411249;18423201;18452278;18669648;18957205;19007248;19413330;19415658;19651622;19664994;19664995;19690332;19691289;19836239;20068231;20129943;20166139;20230923;20573985;20844015;21406692;21947206;22207203;22893130;22928037;23186163;23222130;23299939;23301498;23826332;24244187;24275569;25218447;25576301;25662211;25836925;26154972;26992070;27600516;28218747;28510447;28832583;28834231;28855257;28904123;29242379;29437277;29493099;29610341;29786170;30315122;30379171;30429286;31217245;31530632;31844290;31848261;31998317;32157095;32488085;32938616;32983136;33214551;33298915;33465208;33717175;33968037;34019948;34087483;34171305;35051231;35132862;35251023;35580925;36215666;37356722;39302247;40596516;40914422;9618489;9660949", "class_list": "", "function": "(Microbial infection) Plays a role in efficient growth of several nuclear-replicating viruses such as HIV-1, influenza virus or herpes simplex virus 1/HHV-1. Required for efficient viral mRNA export (PubMed:29610341). May be required for proper polyadenylation of adenovirus type 5/HAdV-5 capsid mRNA (PubMed:37356722)., [UniProtKB, PubMed, PubMed]; The RNA-binding protein ZC3H11A interacts with the nuclear poly(A)-binding protein PABPN1 and alters polyadenylation of viral transcripts., [RefSeq, PubMed]; Through its association with TREX complex components, may participate in the export and post-transcriptional coordination of selected mRNA transcripts, including those required to maintain the metabolic processes in embryonic cells (PubMed:22928037, PubMed:37356722). Binds RNA (PubMed:29610341, PubMed:37356722)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q6AHY4;Q6AHY9;Q6AW79;Q6AWA1;Q6PJK4;Q86XZ7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006406 mRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "O75152-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4B4-1", "uniprot_id": [ { "id": "FBX39_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4B4", "type": "external" } ], "mass": 52646.0, "length": 442, "protein_name": "F-box only protein 39", "gene_name": "FBXO39", "organism": "Human", "refseq_name": "F-box only protein 39", "refseq_ac": [ { "id": "NP_694962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694962", "type": "external" } ], "gene_names_uniprotkb": "FBXO39; FBX39", "gene_names_refseq": "CT144; FBOX39; FBXO39; Fbx39", "protein_names_uniprotkb": "F-box only protein 39", "protein_names_refseq": "F-box only protein 39", "tax_id": 9606, "disease": "", "pathway": " (hsa:162517)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;21338577;24377578;29802700;32902238;34380828;35472243;36244247", "class_list": "", "function": "Aberrant Expression of Cancer-Testis Antigen FBXO39 in Breast Cancer and its Clinical Significance., [RefSeq, PubMed]; FBXO39 showed significant up-regulation in invasive ductal breast carcinoma., [RefSeq, PubMed]; High FBXO39 expression is associated with Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Members of the F-box protein family, such as FBXO39, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; Significance of cancer testis-associated antigens (SPAG9 and FBXO39) in colon cancer., [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex., [UniProtKB]; The cancer-testis antigen FBXO39 predicts poor prognosis and is associated with stemness and aggressiveness in glioma., [RefSeq, PubMed]; These data suggest that the BCP-20 (FBXO39) gene is a new Cancer/Testis antigen and may be useful for diagnosis and immunotherapy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8N4B4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAU4-1", "uniprot_id": [ { "id": "SMUF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAU4", "type": "external" } ], "mass": 86196.0, "length": 748, "protein_name": "E3 ubiquitin-protein ligase SMURF2", "gene_name": "SMURF2", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase SMURF2", "refseq_ac": [ { "id": "NP_073576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073576", "type": "external" } ], "gene_names_uniprotkb": "SMURF2", "gene_names_refseq": "SMURF2", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase SMURF2; 2.3.2.26; HECT-type E3 ubiquitin transferase SMURF2; SMAD ubiquitination regulatory factor 2; SMAD-specific E3 ubiquitin-protein ligase 2; hSMURF2", "protein_names_refseq": "E3 ubiquitin ligase SMURF2; E3 ubiquitin-protein ligase SMURF2; HECT-type E3 ubiquitin transferase SMURF2; SMAD ubiquitination regulatory factor 2; hSMURF2", "tax_id": 9606, "disease": "diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745)", "pathway": " (hsa:64750); (R-HSA-201451); (R-HSA-2173788); (R-HSA-2173795); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-5632684); (R-HSA-5689880); (R-HSA-8941858); (R-HSA-983168)", "pathway_count": 10, "publication_count": 291, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10197981;10199400;10433824;10444327;10458166;10485843;10519551;10531062;10535941;10549282;10564661;10587642;10587654;10712517;10757800;10966113;10982817;11016919;11027307;11062501;11121043;11158580;11163210;11237011;11278251;11350924;11389444;11427533;11509558;11566882;11571290;11714695;11779505;11923872;11960000;12050670;12068298;12123571;12138125;12151385;12426310;12519765;12592392;12646216;12717440;12724779;12821673;12857866;12917689;12917691;14528312;14562029;14611647;14661020;14701756;14718519;14734113;14755250;15053880;15115751;15138260;15198976;15224091;15224092;15300262;15496141;15571818;15781469;15820681;15916963;15937478;16027725;16061177;16061793;16136078;16140942;16155214;16156666;16214042;16421275;16459297;16459298;16595681;16611981;16641086;16651542;16672363;16687519;16740475;16751101;16751102;16849449;16884355;16901786;16954532;16964248;16980583;17029022;17068149;17115028;17290220;17311849;17356069;17438144;17442700;17443180;17510063;17591695;17592128;17641202;17719543;17873522;17980597;17981138;18172164;18448069;18455992;18467330;18497258;18568018;18632802;18636086;18662542;18827223;18832070;19015242;19028597;19125156;19135894;19188362;19305393;19343052;19352404;19363159;19368795;19371734;19379695;19398555;19424180;19452197;19489725;19533801;19549984;19592253;19622347;19666503;19684112;19758997;19759537;19808967;19818708;19838211;19851334;19852954;19874575;19874889;19878745;19910467;19917253;19940261;19955409;19996169;20014402;20016067;20061380;20096447;20100835;20129061;20154143;20228808;20360384;20368735;20460306;20487519;20501646;20512148;20643644;20818436;20844016;20858899;20889716;20937913;20956384;21095583;21239494;21362556;21478859;21571647;21572392;21596315;21659512;21695114;21791611;21799911;21801010;21849505;21878643;21962518;21983142;22007132;22029577;22045334;22085928;22128162;22216260;22344298;22391301;22440753;2261476;22982193;23140627;23144924;23159851;23332756;23333304;23395819;23486064;23535009;23719536;23725801;23824326;23825189;23955340;24056413;24072710;24260525;24302888;24493797;24582806;24845016;24854174;24896179;24925320;25197364;25305019;25576301;25578727;25813380;27153775;27846572;28228285;28904123;29577978;29786170;30696809;31076633;31217245;31554791;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32938616;33298915;33592498;33673144;33968037;33981976;34357683;34509645;35017630;35051231;35318648;35580925;36241641;36284347;37861000;38016474;38810422;38945214;7578059;7644468;7791754;8119126;8653785;8893010;9136927;9215638;9335507;9380723;9436979;9601642;9668046;9674432;9856985;9874371", "class_list": "", "function": "(Microbial infection) In case of filoviruses Ebola/EBOV and Marburg/MARV infection, the complex formed by viral matrix protein VP40 and SMURF2 facilitates virus budding., [UniProtKB, PubMed]; AIMP2 restricts EV71 replication by recruiting SMURF2 to promote the degradation of 3D polymerase., [RefSeq, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:11016919, PubMed:38016474). Interacts with SMAD7 to trigger SMAD7-mediated transforming growth factor beta/TGF-beta receptor ubiquitin-dependent degradation, thereby down-regulating TGF-beta signaling (PubMed:11163210, PubMed:12717440, PubMed:21791611). In addition, interaction with SMAD7 activates autocatalytic degradation, which is prevented by interaction with AIMP1 (PubMed:18448069). Also forms a stable complex with TGF-beta receptor-mediated phosphorylated SMAD1, SMAD2 and SMAD3, and targets SMAD1 and SMAD2 for ubiquitination and proteasome-mediated degradation (PubMed:11016919, PubMed:11158580, PubMed:11389444). SMAD2 may recruit substrates, such as SNON, for ubiquitin-dependent degradation (PubMed:11389444). Negatively regulates TGFB1-induced epithelial-mesenchymal transition and myofibroblast differentiation (PubMed:30696809). Acts as an activator of ferroptosis by mediating ubiquitination and degradation of GSTP1, thereby preventing detoxification of 4-hydroxynonenal (4-HNE) reactive aldehyde (PubMed:38016474). Acts as a positive regulator of smoothened signaling pathway by mediating ubiquitination of PTCH1, leading to endocytosis and lysosomal degradation of PTCH1 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; FOXO1 regulates RUNX2 ubiquitination through SMURF2 in calcific aortic valve disease., [RefSeq, PubMed]; Smurf2-Mediated Ubiquitination of FOXO4 Regulates Oxygen-glucose Deprivation/Reperfusion-induced Pyroptosis of Cortical Neurons., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q52LL1;Q9H260", "ec_number_list": [ { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0046332 SMAD binding;GO:0004842 ubiquitin-protein transferase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0030514 negative regulation of BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 29.6, "record_id": "Q9HAU4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22670-1", "uniprot_id": [ { "id": "RFX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P22670", "type": "external" } ], "mass": 104758.0, "length": 979, "protein_name": "MHC class II regulatory factor RFX1", "gene_name": "RFX1", "organism": "Human", "refseq_name": "MHC class II regulatory factor RFX1", "refseq_ac": [ { "id": "NP_002909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002909", "type": "external" } ], "gene_names_uniprotkb": "RFX1", "gene_names_refseq": "EFC; RFX1; RFX", "protein_names_uniprotkb": "MHC class II regulatory factor RFX1; EF-C; Enhancer factor C; RFX; Regulatory factor X 1; Transcription factor RFX1", "protein_names_refseq": "MHC class II regulatory factor RFX1; MHC class II regulatory factor RFX; enhancer factor C; regulatory factor X, 1 (influences HLA class II expression); trans-acting regulatory factor 1; transcription factor RFX1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5989)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "10330134;10706293;11237011;1508204;15302935;18452278;18669648;18691976;19651622;20068231;2253877;24275569;24366607;24715725;25505266;25576301;25880248;25892735;26375851;26811146;27397612;27846572;27862975;27920218;28218747;28832583;28904123;29242379;29351928;29393594;29632046;29769354;29786170;29789417;30192525;30315122;30410026;30429286;30484775;30779550;31154438;31492838;31530632;31844290;32119511;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32938750;33214551;33298915;33592498;33655492;33912179;33968037;34019948;34087483;34725712;34846842;34932366;35051231;35132862;35138101;35143476;35254053;35318648;35580925;36010968;36241641;36284347;37301270;37541260;37938771;38665916;39302247;39531497;40596516;8224874;8413236", "class_list": "", "function": "RFX transcription factors control a miR-150/PDAP1 axis that restrains the proliferation of human T cells. Publication Status: Online-Only, [RefSeq, PubMed]; RFX1-mediated CCN3 induction that may support chondrocyte survival under starved conditions., [RefSeq, PubMed]; RXR agonist, Bexarotene, effectively reduces drug resistance via regulation of RFX1 in embryonic carcinoma cells., [RefSeq, PubMed]; Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. Also binds to an inverted repeat (ENH1) required for hepatitis B virus genes expression and to the most upstream element (alpha) of the RPL30 promoter., [UniProtKB]; This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P22670-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55318-1", "uniprot_id": [ { "id": "FOXA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P55318", "type": "external" } ], "mass": 37140.0, "length": 350, "protein_name": "Hepatocyte nuclear factor 3-gamma", "gene_name": "FOXA3", "organism": "Human", "refseq_name": "hepatocyte nuclear factor 3-gamma", "refseq_ac": [ { "id": "NP_004488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004488", "type": "external" } ], "gene_names_uniprotkb": "FOXA3; HNF3G; TCF3G", "gene_names_refseq": "FKHH3; FOXA3; HNF3G; TCF3G", "protein_names_uniprotkb": "Hepatocyte nuclear factor 3-gamma; Fork head-related protein FKH H3; Forkhead box protein A3; HNF-3-gamma; HNF-3G; TCF-3G; Transcription factor 3G", "protein_names_refseq": "HNF-3-gamma; HNF-3G; TCF-3G; fork head-related protein FKH H3; forkhead box protein A3; hepatocyte nuclear factor 3-gamma; transcription factor 3G", "tax_id": 9606, "disease": "", "pathway": " (hsa:3171); (R-HSA-210745)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10899756;11237011;12695546;19706729;19919681;25672906;32768436;33361765;33368532;34473308;35051231;35625529;38805565;8332212;8499623;9369482", "class_list": "", "function": "FOXA3 Polymorphisms Are Associated with Metabolic Parameters in Individuals with Subclinical Atherosclerosis and Healthy Controls-The GEA Mexican Study. Publication Status: Online-Only, [RefSeq, PubMed]; FOXA3 regulates cholesterol metabolism to compensate for low uptake during the progression of lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; M6A RNA methylation-mediated HNF3gamma reduction renders hepatocellular carcinoma dedifferentiation and sorafenib resistance. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor FOXA3 promotes the development of Hepatoblastoma via regulating HNF1A, AFP, and ZFHX3 expression., [RefSeq, PubMed]; Transcription factor that is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites (By similarity). Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; binds to and activates transcription from the G6PC1 promoter. Binds to the CYP3A4 promoter and activates its transcription in cooperation with CEBPA. Binds to the CYP3A7 promoter together with members of the CTF/NF-I family. Involved in regulation of neuronal-specific transcription. May be involved in regulation of spermatogenesis., [UniProtKB, PubMed]; Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A9LYI5;Q53F16;Q9UMW9", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019904 protein domain specific binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P55318-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N0W7-1", "uniprot_id": [ { "id": "FMR1N_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N0W7", "type": "external" } ], "mass": 29241.0, "length": 255, "protein_name": "FMR1 neighbor protein", "gene_name": "FMR1NB", "organism": "Human", "refseq_name": "FMR1 neighbor protein", "refseq_ac": [ { "id": "NP_689791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689791", "type": "external" } ], "gene_names_uniprotkb": "FMR1NB", "gene_names_refseq": "CT37; FMR1NB; NY-SAR-35; NYSAR35", "protein_names_uniprotkb": "FMR1 neighbor protein; CT37; Cancer/testis antigen 37; Sarcoma antigen NY-SAR-35", "protein_names_refseq": "FMR1 neighbor protein; cancer/testis antigen 37; sarcoma antigen NY-SAR-35", "tax_id": 9606, "disease": "", "pathway": " (hsa:158521)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;12601173;21318630;26648093;28126340;29555781", "class_list": "", "function": "NY-SAR35 was predominantly expressed at the cytoplasm., [RefSeq, PubMed]; The analysis of methylation status of the NY-SAR-35 gene promoter in various cancer cell lines showed that its expression was related to methylation of the promoter region., [RefSeq, PubMed]; Used a next generation sequencing (NGS) approach. NY-SAR-35 expression induced growth, proliferation, metastasis, and stemness genes, as indicated by the up-regulations of CXCR4, EpCAM, CD133, and CD44, at the mRNA and protein levels, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DWT3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N0W7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92736-1", "uniprot_id": [ { "id": "RYR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92736", "type": "external" } ], "mass": 564567.0, "length": 4967, "protein_name": "Ryanodine receptor 2", "gene_name": "RYR2", "organism": "Human", "refseq_name": "ryanodine receptor 2", "refseq_ac": [ { "id": "NP_001026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026", "type": "external" } ], "gene_names_uniprotkb": "RYR2", "gene_names_refseq": "ARVC2; ARVD2; RYR-2; RYR2; RyR; VACRDS; VTSIP", "protein_names_uniprotkb": "Ryanodine receptor 2; Cardiac muscle ryanodine receptor-calcium release channel; Cardiac muscle ryanodine receptor; RYR-2; RyR2; Type 2 ryanodine receptor; hRYR-2", "protein_names_refseq": "cardiac muscle ryanodine receptor-calcium release channel; cardiac-type ryanodine receptor; islet-type ryanodine receptor; kidney-type ryanodine receptor; ryanodine receptor 2 (cardiac); ryanodine receptor 2; type 2 ryanodine receptor", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); catecholaminergic polymorphic ventricular tachycardia (Disease Ontology:DOID:0060674); catecholaminergic polymorphic ventricular tachycardia 1 (Disease Ontology:DOID:0060675); pre-eclampsia (Disease Ontology:DOID:10591); heart disease (Disease Ontology:DOID:114); gestational diabetes (Disease Ontology:DOID:11714); alcohol use disorder (Disease Ontology:DOID:1574); congenital myopathy 1A (Disease Ontology:DOID:3529); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); malignant hyperthermia (Disease Ontology:DOID:8545); ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (MONDO:MONDO:0020745)", "pathway": " (hsa:6262); (R-HSA-2672351); (R-HSA-5578775)", "pathway_count": 3, "publication_count": 211, "publication_id_list": "10.1101/2023.09.13.557529;10220561;10564087;10642508;10720933;10767424;10830164;10831588;10913253;11062458;11157710;11159936;11182090;11208676;11237011;11588175;11687798;11734858;11805843;11842292;11904445;11904675;11956057;12093772;12106942;12119109;12393854;12832055;12907679;12953268;1379744;14556649;14571276;14584882;14634667;14715536;15010458;15044642;15046072;15046073;15147738;15174025;15260953;15318163;15466642;15504734;15505377;15544015;15598648;15754088;15916532;15919655;16188589;16219661;16407108;16626281;16754674;16813530;16849430;16850186;1693919;17224452;17234969;17357072;17381423;17448995;17486119;17606610;17699613;17881003;17984046;18000046;18063579;18310267;18400985;18449189;18508966;18650434;18662336;18724360;18995841;19153159;19278978;19307298;19380724;19387438;19413330;19482609;19620632;19751721;19808995;19953639;20056922;20388639;20388710;20466723;20479242;20525693;20538786;20961976;21040849;21108950;21472222;21527911;21984732;22002868;22210847;2226863;22427649;22456474;22509897;22511749;22707725;22773952;22946059;22972900;2298749;23071315;23112050;2321095;23362265;23549614;23610579;23616951;2430951;2477373;24778430;24793461;25356899;2536303;25372681;25463374;2559024;25645385;25880248;25892735;25994790;26154972;26359375;26405799;26562072;26695843;26992070;27647848;27733687;28071645;28131631;28154142;2838329;28645727;28657654;28790369;29235522;29242379;2953725;29557506;30219899;30315122;30356673;30399185;30530841;32357974;32387766;32938616;32948795;32983136;33298915;33536282;33592498;34171305;34357683;34509645;34561969;35051231;35356048;35580925;35885069;36010968;36241641;38253038;38479959;38825499;38908063;39302247;39408657;41350704;6328127;7588753;7665160;7702581;7795595;7929371;8041726;8112288;8383669;8533761;8544406;8626462;8798450;8809036;8918259;9037075;9148749;9346285;9395096;9571199;9607712;9662395;9700209;9719863;9744806", "class_list": "", "function": "Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) cytosolic levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Diverse Phenotypic Manifestations in a Family with a Novel RYR2 E4107A Variant., [RefSeq, PubMed]; Loss-of-function W4645R mutation in the RyR2-caffeine binding site: implications for synchrony and arrhythmogenesis. Erratum:[Cell Calcium. 2024 Dec;124:102960. doi: 10.1016/j.ceca.2024.102960. PMID: 39432975], [RefSeq, PubMed]; RYR2 Variant and Sudden Death in Patients With Dilated Cardiomyopathy., [RefSeq, PubMed]; The Role of Ryanodine Receptor 2 Polymorphisms in Oral Squamous Cell Carcinoma Susceptibility and Clinicopathological Features. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 299, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q15411;Q546N8;Q5T3P2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0034236 protein kinase A catalytic subunit binding;GO:0005262 calcium channel activity;GO:0005516 calmodulin binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005790 smooth endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0042383 sarcolemma;GO:0030018 Z disc", "go_biological_process": "GO:0019722 calcium-mediated signaling;GO:0051775 response to redox state;GO:0001666 response to hypoxia;GO:0006816 calcium ion transport;GO:0006874 intracellular calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "Q92736-1", "record_type": "protein", "filter_code": "0000000.1100111.000100.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T4F4-1", "uniprot_id": [ { "id": "ZFY27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T4F4", "type": "external" } ], "mass": 45843.0, "length": 411, "protein_name": "Protrudin", "gene_name": "ZFYVE27", "organism": "Human", "refseq_name": "protrudin isoform 1", "refseq_ac": [ { "id": "NP_001002261", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002261", "type": "external" } ], "gene_names_uniprotkb": "ZFYVE27; SPG33", "gene_names_refseq": "PROTRUDIN; SPG33; ZFYVE27", "protein_names_uniprotkb": "Protrudin; Spastic paraplegia 33 protein; Zinc finger FYVE domain-containing protein 27", "protein_names_refseq": "protrudin isoform 1; spastic paraplegia 33 protein; zinc finger FYVE domain containing 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:118813)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "16826525;17082457;18459960;18606302;19289470;21976701;23481700;23969831;24668814;25418920;25576301;25645385;25855459;25880248;26154972;26811146;27846572;28904123;29493099;29557506;29632046;30429286;31844290;32157095;32265295;32387766;32488085;32502341;32686675;32917905;32938616;33141586;33154382;33298915;33392160;33912179;33968037;34509645;34561969;35051231;35580925;36010968;36215666;36284347;37938771", "class_list": "", "function": "Molecular tethering protein, which plays a role in the formation of membrane contact sites between the endoplasmic reticulum and late endosomes/lysosomes (PubMed:17082457, PubMed:25855459, PubMed:32686675). Promotes neurite formation by tethering endosomes to the endoplasmic reticulum membrane: interacts with Rab7-positive late endosomes, acting as a bridge to form endoplasmic reticulum membrane-endosome contact sites (PubMed:25855459, PubMed:32686675). Acts in cooperation with vesicle-associated membrane protein-associated protein (VAPA or VAPB), thereby facilitating loading of the endosome membrane with KIF5, which is required for movement of the endosomes along microtubules in the plus-end direction (PubMed:19289470, PubMed:21976701, PubMed:25855459). Also associates with Rab11-positive recycling endosomes, facilitating exocytosis and membrane expansion (PubMed:17082457). Contributes to both the formation and stabilization of the tubular endoplasmic reticulum network (PubMed:24668814). Involved in endoplasmic reticulum morphogenesis by regulating the sheet-to-tubule balance and possibly the density of tubule interconnections (PubMed:23969831)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutation affects neuronal intracellular trafficking in the corticospinal tract, which is consistent with the pathology of hereditary spastic paraplegia., [RefSeq, PubMed]; Protrudin and PDZD8 contribute to neuronal integrity by promoting lipid extraction required for endosome maturation. Publication Status: Online-Only, [RefSeq, PubMed]; Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS. Publication Status: Online-Only, [RefSeq, PubMed]; Protrudin regulates Rab11-dependent membrane recycling to promote the directional membrane trafficking required for neurite formation [protrudin], [RefSeq, PubMed]; The role of ZFYVE27/protrudin in hereditary spastic paraplegia is reported., [RefSeq, PubMed]; This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3S0;B7Z404;B7Z626;G8JLC3;G8JLF0;J3KP98;Q5T4F1;Q5T4F2;Q5T4F3;Q8N1K0;Q8N6D6;Q8NCA0;Q8NDE4;Q96M08", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0032584 growth cone membrane;GO:0005783 endoplasmic reticulum;GO:0030424 axon;GO:0030425 dendrite;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0031175 neuron projection development;GO:0072659 protein localization to plasma membrane;GO:0016192 vesicle-mediated transport;GO:0045773 positive regulation of axon extension;GO:0048011 neurotrophin TRK receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q5T4F4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4V326-1", "uniprot_id": [ { "id": "GAG2E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4V326", "type": "external" } ], "mass": 12217.0, "length": 110, "protein_name": "G antigen 2E", "gene_name": "GAGE2E", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GAGE2E", "gene_names_refseq": "", "protein_names_uniprotkb": "G antigen 2E; GAGE-2E", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "18179644", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WUD6;A6NFB1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q4V326-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EK9-1", "uniprot_id": [ { "id": "KTI12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EK9", "type": "external" } ], "mass": 38616.0, "length": 354, "protein_name": "Protein KTI12 homolog", "gene_name": "KTI12", "organism": "Human", "refseq_name": "protein KTI12 homolog", "refseq_ac": [ { "id": "NP_612426", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612426", "type": "external" } ], "gene_names_uniprotkb": "KTI12; SBBI81", "gene_names_refseq": "KTI12; SBBI81; TOT4", "protein_names_uniprotkb": "Protein KTI12 homolog", "protein_names_refseq": "KTI12 homolog, chromatin associated; protein KTI12 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:112970)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "18669648;19690332;20068231;23186163;23481700;25505266;25576301;26992070;27846572;27920218;28514659;29242379;29493099;29632046;29769354;30429286;30779550;31154438;31217245;31530632;31844290;31848261;32350084;32387766;32488085;33141586;33298915;33417976;33936100;33968037;33981976;34171305;34357683;34509645;35051231;35580925;36010968", "class_list": "", "function": "Same but different - Molecular comparison of human KTI12 and PSTK., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding", "go_cellular_component": "", "go_biological_process": "GO:0002098 tRNA wobble uridine modification", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q96EK9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBE3-1", "uniprot_id": [ { "id": "FNDC9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBE3", "type": "external" } ], "mass": 25275.0, "length": 224, "protein_name": "Fibronectin type III domain-containing protein 9", "gene_name": "FNDC9", "organism": "Human", "refseq_name": "fibronectin type III domain-containing protein 9", "refseq_ac": [ { "id": "NP_001001343", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001343", "type": "external" } ], "gene_names_uniprotkb": "FNDC9; C5orf40", "gene_names_refseq": "C5orf40; FNDC9", "protein_names_uniprotkb": "Fibronectin type III domain-containing protein 9", "protein_names_refseq": "fibronectin type III domain-containing protein 9; fibronectin type-III domain-containing protein C5orf40", "tax_id": 9606, "disease": "", "pathway": " (hsa:408263)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;20058876;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0Y6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8TBE3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VTL7-1", "uniprot_id": [ { "id": "FNDC7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VTL7", "type": "external" } ], "mass": 78236.0, "length": 733, "protein_name": "Fibronectin type III domain-containing protein 7", "gene_name": "FNDC7", "organism": "Human", "refseq_name": "fibronectin type III domain-containing protein 7 precursor", "refseq_ac": [ { "id": "NP_001138409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138409", "type": "external" } ], "gene_names_uniprotkb": "FNDC7", "gene_names_refseq": "FNDC7", "protein_names_uniprotkb": "Fibronectin type III domain-containing protein 7", "protein_names_refseq": "fibronectin type III domain-containing protein 7 precursor; fibronectin type III domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:163479)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;33141586;35051231", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1L468;E9PAZ5;Q6PF16;Q8NA51", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5VTL7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26885-1", "uniprot_id": [ { "id": "FKBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P26885", "type": "external" } ], "mass": 15649.0, "length": 142, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP2", "gene_name": "FKBP2", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001128680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128680", "type": "external" } ], "gene_names_uniprotkb": "FKBP2; FKBP13", "gene_names_refseq": "FKBP-13; FKBP13; FKBP2; PPIase", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP2; 13 kDa FK506-binding protein; 13 kDa FKBP; 5.2.1.8; FK506-binding protein 2; FKBP-13; FKBP-2; Immunophilin FKBP13; PPIase FKBP2; Rotamase", "protein_names_refseq": "13 kDa FK506-binding protein; 13 kDa FKBP; FK506 binding protein 2, 13kDa; FK506-binding protein 2; PPIase FKBP2; epididymis secretory sperm binding protein; immunophilin FKBP13; peptidyl-prolyl cis-trans isomerase FKBP2 isoform 1 precursor; peptidyl-prolyl cis-trans isomerase FKBP2; proline isomerase; rapamycin-binding protein; rotamase", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 19 (Disease Ontology:DOID:0080065); Huntington's disease (Disease Ontology:DOID:12858); hypothyroidism (Disease Ontology:DOID:1459); renovascular hypertension (Disease Ontology:DOID:1591); middle cerebral artery infarction (Disease Ontology:DOID:3525); proteinuria (Disease Ontology:DOID:576); congestive heart failure (Disease Ontology:DOID:6000); hyperthyroidism (Disease Ontology:DOID:7998); cataract (Disease Ontology:DOID:83); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2286)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;12606707;1281998;1713687;19913121;20068231;20628086;28228285;28385890;29393594;29508533;29557506;30315122;31611695;31844290;32350084;35251023;35580925;38665916", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observed changes in activity of six rER-resident PPIases, cyclophilin B (encoded by the PPIB gene), FKBP13 (FKBP2), FKBP19 (FKBP11), FKBP22 (FKBP14), FKBP23 (FKBP7), and FKBP65 (FKBP10), due to posttranslational modifications of proline residues in the substrate., [RefSeq, PubMed]; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5BJH9;Q9BTS7", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0005528 FK506 binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P26885-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JJ7-1", "uniprot_id": [ { "id": "TMX3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JJ7", "type": "external" } ], "mass": 51872.0, "length": 454, "protein_name": "Protein disulfide-isomerase TMX3", "gene_name": "TMX3", "organism": "Human", "refseq_name": "protein disulfide-isomerase TMX3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061895", "type": "external" } ], "gene_names_uniprotkb": "TMX3; KIAA1830; TXNDC10", "gene_names_refseq": "PDIA13; TMX3; TXNDC10", "protein_names_uniprotkb": "Protein disulfide-isomerase TMX3; 5.3.4.1; Thioredoxin domain-containing protein 10; Thioredoxin-related transmembrane protein 3", "protein_names_refseq": "protein disulfide isomerase family A, member 13; protein disulfide-isomerase TMX3 isoform 1 precursor; protein disulfide-isomerase TMX3; thioredoxin domain containing 10; thioredoxin domain-containing protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:54495); (R-HSA-114608)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;11237011;1435334;14630798;15297306;15623505;17881353;19159218;19240061;20485507;23640497;24190977;24715725;25576301;25645385;26992070;27452731;27846572;27920218;28228285;28467828;28904123;29393594;29557506;29741879;30315122;30429286;31020640;31304984;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34357683;34561969;34725712;34932366;35051231;35154160;35251023;35580925;36010968;36215666;37074911;37938771;38665916;40914422;6457647;8467233", "class_list": "", "function": "Analysis of TMX3 interdomain stabilization of the N-terminal redox-active domain, [RefSeq, PubMed]; Data show that TMX3 expression is upregulated in melanoma cell lines and patient samples. TMX knockdown altered mitochondrial organization, enhanced bioenergetics, and elevated mitochondrial- and NOX4-derived ROS. The TMX-knockdown-induced oxidative stress suppressed melanoma proliferation, migration, and xenograft tumor growth by inhibiting NFAT1. TMX1 is associated with poor disease outcome., [RefSeq, PubMed]; Haploinsufficiency for TMX3 results in a small eye phenotype and represents a novel genetic cause of microphthalmia and coloboma. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase (PubMed:15623505). Acts as a regulator of endoplasmic reticulum-mitochondria contact sites via its ability to regulate redox signals (PubMed:31304984)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TMX3 is a thioredoxin-related transmembrane protein of the endoplasmic reticulum, [RefSeq, PubMed]; This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KV75;Q52LT7;Q8N5J0;Q9NWJ9", "ec_number_list": [ { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" } ], "go_molecular_function": "GO:0015035 protein-disulfide reductase activity;GO:0003756 protein disulfide isomerase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0005789 endoplasmic reticulum membrane;GO:0031092 platelet alpha granule membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q96JJ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15328-1", "uniprot_id": [ { "id": "FOLR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P15328", "type": "external" } ], "mass": 29819.0, "length": 257, "protein_name": "Folate receptor alpha", "gene_name": "FOLR1", "organism": "Human", "refseq_name": "folate receptor alpha precursor", "refseq_ac": [ { "id": "NP_000793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000793", "type": "external" } ], "gene_names_uniprotkb": "FOLR1; FOLR", "gene_names_refseq": "FBP; FOLR1; FOLR; FR-alpha; FRalpha; NCFTD", "protein_names_uniprotkb": "Folate receptor alpha; Adult folate-binding protein; FBP; FR-alpha; Folate receptor 1; Folate receptor, adult; KB cells FBP; Ovarian tumor-associated antigen MOv18", "protein_names_refseq": "KB cells FBP; adult folate-binding protein; folate binding protein; folate receptor 1 (adult); folate receptor alpha precursor; folate receptor, adult; ovarian tumor-associated antigen MOv18", "tax_id": 9606, "disease": "cerebral folate receptor alpha deficiency (Disease Ontology:DOID:0050719)", "pathway": " (hsa:2348); (R-HSA-204005); (R-HSA-5694530); (R-HSA-6807878)", "pathway_count": 4, "publication_count": 197, "publication_id_list": "10.1101/2023.09.13.557529;10052452;10318838;10445031;10559958;10559959;10652252;10679020;10747087;10761932;10787414;10788476;10825291;10903204;10921873;10982397;11035026;11035033;11172815;11285137;11306556;11461920;11689559;11703931;11726511;11748249;11927603;12047556;12070132;12235121;12237308;12388752;12634853;14654841;14742712;15037235;15616190;15632110;15728195;1581364;15813748;15878873;16030262;16129679;16303754;1631136;16495487;16624868;16633337;16723730;1680566;16912714;16926190;16940185;17005010;17010120;17038314;1717147;17192411;17253781;17274799;17287728;17316621;17360540;17429068;17451557;17499046;17562788;17566972;17607000;17684057;17760859;17927562;17956946;18025080;18086915;18182008;18283111;18283113;18287528;1840502;18524849;18780401;18809720;18843296;1898986;19015319;19074442;19109418;19164740;19265014;19269366;19296914;19566487;1957170;19631211;19638414;19656848;19732866;19758564;20357002;20427317;20477988;20533886;20545907;20637885;20679433;20805473;20966969;21219331;21478858;21525241;21532587;21689688;21844168;21878990;22013193;22094269;22121020;22157747;22304919;22675024;23090970;23378591;23479643;23698585;23839779;23851396;23852824;23864707;23934049;24119662;24190977;24806965;24917561;25202031;2527252;2538429;25406594;25436559;25492864;25586378;25619252;25619253;27397612;2768245;28607601;29557506;29741879;30429286;31274231;31848261;32125861;34171305;3476960;35051231;35580925;36241641;37074911;37506533;37883728;38057830;39085882;39534244;7578066;7691276;8001155;8033114;8128252;8132710;8221884;8253837;8505331;8567728;8620540;8636227;8663406;8991093;9063895;9094723;9114004;9150144;9177194;9244307;9288971;9307973;9323141;9380700;9382863;9395526;9405360;9472029;9490716;9647643;9671725;9751720;9990005", "class_list": "", "function": "Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells (PubMed:19074442, PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728). Has high affinity for folate and folic acid analogs at neutral pH (PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728). Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release (PubMed:8567728). Required for normal embryonic development and normal cell proliferation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Cancer-associated fibroblasts induce sorafenib resistance of hepatocellular carcinoma cells through CXCL12/FOLR1. Erratum:[BMC Cancer. 2025 Mar 4;25(1):391. doi: 10.1186/s12885-025-13807-8. PMID: 40038634] Publication Status: Online-Only, [RefSeq, PubMed]; Folate receptor alpha is widely expressed and a potential therapeutic target in uterine and ovarian carcinosarcoma., [RefSeq, PubMed]; Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele., [RefSeq, PubMed]; PARP-1, EpCAM, and FRalpha as potential targets for intraoperative detection and delineation of endometriosis: a quantitative tissue expression analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 68, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q53EW2;Q6FGT8;Q6LC90;Q9UCT2", "ec_number_list": [], "go_molecular_function": "GO:0005542 folic acid binding;GO:0061714 folic acid receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0046654 tetrahydrofolate biosynthetic process;GO:0035036 sperm-egg recognition;GO:0007155 cell adhesion;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization", "synthesized_glycan_count": 0, "hit_score": 27.4, "record_id": "P15328-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RUH7-1", "uniprot_id": [ { "id": "MBPHL_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RUH7", "type": "external" } ], "mass": 38733.0, "length": 354, "protein_name": "Myosin-binding protein H-like", "gene_name": "MYBPHL", "organism": "Human", "refseq_name": "myosin-binding protein H-like isoform 1", "refseq_ac": [ { "id": "NP_001010985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010985", "type": "external" } ], "gene_names_uniprotkb": "MYBPHL", "gene_names_refseq": "MYBPHL", "protein_names_uniprotkb": "Myosin-binding protein H-like", "protein_names_refseq": "myosin-binding protein H-like isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:343263)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "24715725;28778945;31292467;32387766;33772052;39894887", "class_list": "", "function": "A proof-of-concept study for the pathogenetic role of enhancer hypomethylation of MYBPHL in multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; MYBPHL truncations may increase risk for human arrhythmias and cardiomyopathy., [RefSeq, PubMed]; Myosin binding protein H-like (MYBPHL): a promising biomarker to predict atrial damage. Publication Status: Online-Only, [RefSeq, PubMed]; Myosin-binding protein which plays a role in cardiac function (PubMed:28778945). Seems to regulate conduction in the atria and ventricular conduction systems (PubMed:28778945)., [UniProtKB, PubMed]; This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "risk; diagnostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7ZME5;Q5T2Z7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0030017 sarcomere;GO:0036379 myofilament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A2RUH7-1", "record_type": "protein", "filter_code": "1000100.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N448-1", "uniprot_id": [ { "id": "LNX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N448", "type": "external" } ], "mass": 76004.0, "length": 690, "protein_name": "Ligand of Numb protein X 2", "gene_name": "LNX2", "organism": "Human", "refseq_name": "ligand of Numb protein X 2", "refseq_ac": [ { "id": "NP_699202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699202", "type": "external" } ], "gene_names_uniprotkb": "LNX2; PDZRN1", "gene_names_refseq": "LNX2; PDZRN1", "protein_names_uniprotkb": "Ligand of Numb protein X 2; Numb-binding protein 2; PDZ domain-containing RING finger protein 1", "protein_names_refseq": "PDZ domain containing ring finger 1; PDZ domain-containing RING finger protein 1; ligand of Numb protein X 2; numb-binding protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:222484)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;18669648;22045731;23481700;24715725;25418920;25576301;25645385;25892735;26992070;27600516;28218747;28832583;28834231;29242379;29393594;29437277;29557506;29632711;29769354;29789417;30410026;30429286;30779550;31217245;31530632;31844290;31937595;31998317;32157095;32387766;32502341;32938616;33141586;33298915;33912179;33968037;33981976;34171305;34561969;34932366;35051231;36010968;36284347;37237241;37938771", "class_list": "", "function": "LNX1 and LNX2 interact with CD8alpha and promote its ubiquitylation and endocytosis, [RefSeq, PubMed]; LNX2 involves in the role of ghrelin to promote the neuronal differentiation of adipose tissue-derived mesenchymal stem cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5W0P0;Q6ZMH2;Q96SH4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0030165 PDZ domain binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8N448-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6M2-1", "uniprot_id": [ { "id": "FBX33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6M2", "type": "external" } ], "mass": 62630.0, "length": 555, "protein_name": "F-box only protein 33", "gene_name": "FBXO33", "organism": "Human", "refseq_name": "F-box only protein 33", "refseq_ac": [ { "id": "NP_976046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976046", "type": "external" } ], "gene_names_uniprotkb": "FBXO33; FBX33", "gene_names_refseq": "BMND12; FBXO33; Fbx33; c14_5247", "protein_names_uniprotkb": "F-box only protein 33", "protein_names_refseq": "F-box only protein 33", "tax_id": 9606, "disease": "", "pathway": " (hsa:254170)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;23481700;24366607;24714562;24715725;25284319;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27862975;28218747;28228285;28446606;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;30779550;31092671;31154438;31217245;31530632;31566214;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33592498;33691108;33717175;33912179;33968037;33981976;34433824;34509645;34932366;35051231;35251023;35561310;35580925;36241641;36284347", "class_list": "", "function": "Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids., [RefSeq, PubMed]; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. Recognizes YBX1 (By similarity)., [UniProtKB]; This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010]., [RefSeq]; This study findings show tentative evidence for the involvement of FBXO33 in the susceptibility to adult attention-deficit hyperactivity disorder., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PIR2;Q86TR2;Q86YE0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0031398 positive regulation of protein ubiquitination;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q7Z6M2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q10981-1", "uniprot_id": [ { "id": "FUT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q10981", "type": "external" } ], "mass": 39017.0, "length": 343, "protein_name": "Galactoside alpha-(1,2)-fucosyltransferase 2", "gene_name": "FUT2", "organism": "Human", "refseq_name": "galactoside alpha-(1,2)-fucosyltransferase 2", "refseq_ac": [ { "id": "NP_000502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000502", "type": "external" } ], "gene_names_uniprotkb": "FUT2; SEC2", "gene_names_refseq": "B12QTL1; FUT2; SEC2; SE; Se2; sej", "protein_names_uniprotkb": "Galactoside alpha-(1,2)-fucosyltransferase 2; 2.4.1.344; 2.4.1.69; Alpha(1,2)FT 2; Fucosyltransferase 2; GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2; SE2; Secretor blood group alpha-2-fucosyltransferase; Secretor factor; Se; Type 1 galactoside alpha-(1,2)-fucosyltransferase FUT2; Type 2 galactoside alpha-(1,2)-fucosyltransferase FUT2", "protein_names_refseq": "FUT2 fucosyltransferase 2; GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2; alpha (1,2) fucosyltransferase; alpha(1,2)FT 2; alpha(1,2)FT2; fucosyltransferase 2 (secretor status included); galactoside 2-L-fucosyltransferase; galactoside 2-alpha-L-fucosyltransferase 2; galactoside alpha-(1,2)-fucosyltransferase 2; secretor blood group alpha-2-fucosyltransferase; secretor factor; type 1 galactoside alpha-(1,2)-fucosyltransferase FUT2; type 2 galactoside alpha-(1,2)-fucosyltransferase FUT2", "tax_id": 9606, "disease": "vitamin B12 deficiency (Disease Ontology:DOID:0050731)", "pathway": " (hsa:2524); (R-HSA-9033807); (R-HSA-9037629); (R-HSA-9840309)", "pathway_count": 4, "publication_count": 88, "publication_id_list": "10092863;10206952;10212226;10601645;10748143;10993897;11018043;11283017;11956206;12107078;12198488;12222957;12668675;12678917;12692541;12815231;12888565;14688233;15158662;1520296;1601877;16934889;1702034;17123352;1716630;17259183;1740457;18192272;18776911;1977660;20506485;20547865;2118655;21625510;22068912;22735313;23290777;2333095;23746551;23882130;24498430;24733310;24953560;25576301;27862975;29557506;29789417;29802621;30524438;31848261;33537174;33912179;33981976;34087483;34185709;34982351;35051231;35580925;36284347;37342060;37504220;39241136;39390072;7876234;7876235;7890749;7912436;8018146;8207002;8240337;8288606;8333853;8621666;8631849;8643456;8755920;8830034;8910600;8920913;9030544;9125199;9199191;9219535;9226185;9299444;9582303;9760207;9822625", "class_list": "glycogene;glycosyltransferase", "function": "Association between antibiotic use during early life and early-onset colorectal cancer risk overall and according to polygenic risk and FUT2 genotypes., [RefSeq, PubMed]; Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose on both O- and N-linked glycans chains of cell surface glycoproteins and glycolipids and the resulting epitope regulates several processes such as cell-cell interaction including host-microbe interaction, cell surface expression and cell proliferation (PubMed:12692541, PubMed:7876235, PubMed:8018146). Preferentially fucosylates gangliosides GA1 and GM1 in the antrum, cecum and colon and in the female reproductive organs (By similarity). Fucosylated host glycoproteins or glycolipids mediate interaction with intestinal microbiota influencing its composition (PubMed:21625510, PubMed:22068912, PubMed:24733310). Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble ABO blood group antigen synthesis pathway (PubMed:7876235)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Chemo-sensory loss and FUT2 gene in COVID-19 infected Iraqi dentists., [RefSeq, PubMed]; FUT2 promotes colorectal cancer metastasis by reprogramming fatty acid metabolism via YAP/TAZ signaling and SREBP-1. Publication Status: Online-Only, [RefSeq, PubMed]; Relationship between ABO Blood Group Alleles and Pancreatic Cancer Is Modulated by Secretor (FUT2) Genotype, but Not Lewis Antigen (FUT3) Genotype., [RefSeq, PubMed]; This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. The encoded protein is important for the final step in the soluble ABO blood group antigen synthesis pathway. It is also involved in cell-cell interaction, cell surface expression, and cell proliferation. Mutations in this gene are a cause of the H-Bombay blood group where red blood cells lack the H antigen. [provided by RefSeq, May 2022]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 504, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q0VAG5;Q14338;Q5D0G2", "ec_number_list": [ { "id": "2.4.1.344", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.344", "type": "external" }, { "id": "2.4.1.69", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.69", "type": "external" } ], "go_molecular_function": "GO:0008417 fucosyltransferase activity;GO:0031127 alpha-(1,2)-fucosyltransferase activity;GO:0008107 galactoside 2-alpha-L-fucosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0005975 carbohydrate metabolic process;GO:0009101 glycoprotein biosynthetic process;GO:0009312 oligosaccharide biosynthetic process;GO:0042355 L-fucose catabolic process", "synthesized_glycan_count": 1540, "hit_score": 8.9, "record_id": "Q10981-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14543-1", "uniprot_id": [ { "id": "SOCS3_HUMAN", "url": "https://www.uniprot.org/uniprot/O14543", "type": "external" } ], "mass": 24770.0, "length": 225, "protein_name": "Suppressor of cytokine signaling 3", "gene_name": "SOCS3", "organism": "Human", "refseq_name": "suppressor of cytokine signaling 3", "refseq_ac": [ { "id": "NP_003946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003946", "type": "external" } ], "gene_names_uniprotkb": "SOCS3; CIS3; SSI3", "gene_names_refseq": "ATOD4; CIS3; Cish3; SOCS-3; SOCS3; SSI-3; SSI3", "protein_names_uniprotkb": "Suppressor of cytokine signaling 3; CIS-3; Cytokine-inducible SH2 protein 3; SOCS-3; SSI-3; STAT-induced STAT inhibitor 3", "protein_names_refseq": "STAT-induced STAT inhibitor 3; cytokine-inducible SH2 protein 3; suppressor of cytokine signaling 3", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); status epilepticus (Disease Ontology:DOID:1824); invasive ductal carcinoma (Disease Ontology:DOID:3008); cholangiocarcinoma (Disease Ontology:DOID:4947); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9021); (R-HSA-1059683); (R-HSA-2586552); (R-HSA-6785807); (R-HSA-877300); (R-HSA-877312); (R-HSA-8849474); (R-HSA-8939242); (R-HSA-8951664); (R-HSA-909733); (R-HSA-912694); (R-HSA-9674555); (R-HSA-9705462); (R-HSA-982772); (R-HSA-983168)", "pathway_count": 15, "publication_count": 449, "publication_id_list": "10022928;10023775;10064597;10067896;10219247;10369418;10395669;10421843;10510379;10514492;10535940;10537111;10542297;10586089;10597293;10643150;10688912;10777583;10805787;10811609;10851062;10867011;10878807;10944457;10973499;10982844;10986460;11058569;11062501;11069780;11071852;11084045;11092454;11104795;11120780;11121117;11237011;11259415;11278437;11278729;11292861;11292862;11331873;11337497;11350924;11356008;11377645;11404376;11404481;11448122;11454738;11463377;11585831;11585840;11694501;11733065;11748924;11960372;11961546;11972023;12027890;12029096;12040185;12101228;12133942;12186903;12223527;12242343;12438563;12446674;12483717;12504025;12504026;12504904;12526791;12538644;12540842;12600988;12609982;12646216;12682069;12734179;12759363;12766484;12783885;12809493;12816948;12829785;12832402;12842042;12855578;12897384;12907755;12915721;1396683;14512302;14559241;14586410;14634100;14690597;14712222;14722222;14734113;14757770;14769151;15047845;15051545;15070676;1508672;15107455;15116091;15143187;15224091;15224092;15261459;15282312;15312780;15316008;15322115;15361859;15367669;15388922;15449939;1549776;15530433;15537541;15571818;15572695;15574592;15584925;15601820;15601839;15652483;15688063;15694336;15767667;15778442;15799966;15805299;15869882;15950906;16007214;16009940;16048438;16107692;16171779;16171819;16205632;16236134;16237089;16300827;16397018;16401342;16410555;16451196;16459330;16467876;16492764;16510571;16540365;16547496;16568091;16595681;16606674;16647857;16685656;16707496;16710296;16720384;16790436;16849449;16868551;16943200;16954532;16987978;1701053;17081101;17125875;17132228;17183367;17220875;17251292;1730654;17332328;17351669;17363902;17427945;17458857;17497243;17565041;17572495;17785452;17879956;17969444;18031232;18035202;18093314;18206966;18243101;18353781;18362138;18382766;18447642;18488018;18508557;18516053;18519587;18575461;18591661;18644434;18644974;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19124156;19185846;19250909;19321346;19352404;19393627;19397496;19452197;19453968;1948064;19489725;19617556;19748355;19851334;19874575;19927328;19940261;20049711;20130243;20304997;20363976;20493732;20643137;20929863;21098664;21102457;21252155;21447816;21463634;2147944;21689689;21723253;21730069;21778237;21863050;21937440;21940857;21994466;22046235;2211721;22205702;22306028;22311708;22383755;22466964;22537386;22547065;2261476;2261637;22693070;22851691;22959436;23019338;23034403;23061660;23086340;23121362;23124025;23172665;23201271;23333871;23401859;23453757;23455323;23535662;23535663;23555662;23563313;23583660;23912815;23967200;23986495;24076655;24097101;24220695;24366543;24417533;24636985;24743777;24793695;24793696;25234944;25314029;25349211;25355947;25371710;25531226;25576301;26344709;26460955;26632597;26906416;27030794;27222660;27565346;2788034;28115426;2825030;29153394;29493099;30379171;30485383;30610225;30644389;30779550;31844290;32005965;32032529;32113509;32157095;32284348;32306778;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33117408;33123756;33189161;33193462;33239784;33314148;33396578;33444648;3349036;33968037;34087483;35051231;35580925;36241641;38533493;38637274;38975347;39079086;39468152;6162102;6548414;688397;7510216;7512451;7512720;7514165;7521688;7526154;7529288;7530745;7537377;7540766;7615558;7617032;7657660;7673114;7690989;7691587;7701321;7795521;7796299;7796300;7805849;7812050;7871433;7898939;7907877;8085155;8134389;8140422;8156998;8176225;8188682;8197119;8197134;8232552;8272873;8343952;8483949;8530158;8550631;8602263;8605876;8621447;8621622;8631301;8662591;8662795;8663118;8668165;8702790;8797861;8816495;8943354;8977235;9013879;9020115;9030599;9058373;9061609;9092791;9096384;9111318;9121453;9143706;9226159;9242679;9266833;9285712;9334213;9344848;9380723;9382798;9405487;9600917;9630226;9651359;9660177;9668046;9723655;9736340;9790970;9794795;9822675;9847332;9861020;9864153;9874564;9885206;9887101;9891082", "class_list": "", "function": "DNA methylation near MAD1L1, KDM2B, and SOCS3 mediates the effect of socioeconomic status on elevated body mass index in African American adults., [RefSeq, PubMed]; Exploring the clinical and cellular mechanisms of LncRNA-KCNQ1OT1/miR-29a-3p/SOCS3 molecular axis in cases of unexplained recurrent spontaneous abortion., [RefSeq, PubMed]; LncRNA BRE-AS1 regulates the JAK2/STAT3-mediated inflammatory activation via the miR-30b-5p/SOC3 axis in THP-1 cells. Publication Status: Online-Only, [RefSeq, PubMed]; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS3 is involved in negative regulation of cytokines that signal through the JAK/STAT pathway (PubMed:16459330). Inhibits signal transduction by binding to transmembrane signaling receptors including IL6ST/gp130, LIFR, EPOR, INSR, IL12RB2, CSF3R/G-CSF-R and LEPR. Binding to JAK2 inhibits its kinase activity and regulates IL6 signaling. Suppresses fetal liver erythropoiesis. Regulates onset and maintenance of allergic responses mediated by T-helper type 2 cells (By similarity). Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820). Upon OSM stimulation, negatively regulates the JAK-STAT signaling mediated through type II OSM receptor complex by interacting directly with JAK1 (PubMed:16459330)., [UniProtKB, UniProtKB, PubMed, PubMed]; SOCS1 and SOCS3 as key checkpoint molecules in the immune responses associated to skin inflammation and malignant transformation. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Suppressor of cytokine signaling-3 expression and its regulation in relation to inflammation in Chronic Obstructive Pulmonary Disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O14509", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0004860 protein kinase inhibitor activity;GO:0035198 miRNA binding;GO:0005126 cytokine receptor binding;GO:0019210 kinase inhibitor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0016567 protein ubiquitination;GO:0019221 cytokine-mediated signaling pathway;GO:0046426 negative regulation of receptor signaling pathway via JAK-STAT", "synthesized_glycan_count": 0, "hit_score": 45.2, "record_id": "O14543-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCM7-1", "uniprot_id": [ { "id": "FBSL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCM7", "type": "external" } ], "mass": 110907.0, "length": 1045, "protein_name": "Fibrosin-1-like protein", "gene_name": "FBRSL1", "organism": "Human", "refseq_name": "fibrosin-1-like protein isoform 1", "refseq_ac": [ { "id": "NP_001136113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136113", "type": "external" } ], "gene_names_uniprotkb": "FBRSL1; AUTS2L; KIAA1545; XTP9", "gene_names_refseq": "FBRSL1", "protein_names_uniprotkb": "Fibrosin-1-like protein; AUTS2-like protein; HBV X-transactivated gene 9 protein; HBV XAg-transactivated protein 9", "protein_names_refseq": "AUTS2-like protein; HBV X-transactivated gene 9 protein; HBV XAg-transactivated protein 9; fibrosin-1-like protein isoform 1; fibrosin-1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57666)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;19690332;19851445;20934997;21406692;23186163;23481700;28218747;28904123;30379171;30833945;31154438;31217245;31844290;32161166;32350084;32357974;32387766;32488085;33298915;33912179;34352340;34357683;35051231;35254053;35580925;37217939;37938771;38501224", "class_list": "", "function": "Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson's disease., [RefSeq, PubMed]; Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q86XQ1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9HCM7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC36-1", "uniprot_id": [ { "id": "MRM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC36", "type": "external" } ], "mass": 47020.0, "length": 420, "protein_name": "rRNA methyltransferase 3, mitochondrial", "gene_name": "MRM3", "organism": "Human", "refseq_name": "rRNA methyltransferase 3, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001304876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304876", "type": "external" } ], "gene_names_uniprotkb": "MRM3; HC90; RNMTL1", "gene_names_refseq": "MRM3; RMTL1; RNMTL1", "protein_names_uniprotkb": "rRNA methyltransferase 3, mitochondrial; 16S rRNA (guanosine(1370)-2'-O)-methyltransferase; 16S rRNA [Gm1370] 2'-O-methyltransferase; 2.1.1.-; RNA methyltransferase-like protein 1", "protein_names_refseq": "16S rRNA (guanosine(1370)-2'-O)-methyltransferase; 16S rRNA [Gm1370] 2'-O-methyltransferase; RNA methyltransferase like 1; RNA methyltransferase-like protein 1; putative RNA methyltransferase; rRNA methyltransferase 3, mitochondrial isoform 2; rRNA methyltransferase 3, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:55178); (R-HSA-6793080)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11237011;11809803;12296377;12496758;15110318;19356719;19417006;21531335;22341444;22949673;23022348;23303773;23804760;24036117;25009282;25074936;25418920;26154972;26464487;27667664;27920218;27974379;28082677;28904123;29242379;29351928;29393594;29557506;29632046;29769354;30379171;31844290;32157095;32161166;32265295;32387766;32938616;33141586;33968037;34229054;34357683;34932366;35051231;35177605;40596516", "class_list": "", "function": "Data show that 2'-O-methyltransferases MRM1, MRM2, and RNMTL1 are responsible for modification of large subunit rRNA at residues G1145, U1369, and G1370, respectively., [RefSeq, PubMed]; Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; MRM2 and MRM3 are human mitochondrial methyltransferases involved in the modification of 16S rRNA and are important factors for the biogenesis and function of the large subunit of the mitochondrial ribosome., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 1370 (Gm1370) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a conserved modification in the peptidyl transferase domain of the mtLSU rRNA (PubMed:24036117, PubMed:25009282, PubMed:25074936, PubMed:35177605). Also required for formation of 2'-O-methyluridine at position 1369 (Um1369) mediated by MRM2 (PubMed:35177605)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The ATF/CREB site is the key element for transcription of this protein found on human chromosome 17., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53GN1;Q86VC3;Q96F76;Q9NVQ5", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0070039 rRNA (guanosine-2'-O-)-methyltransferase activity;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0008173 RNA methyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006364 rRNA processing;GO:1902775 mitochondrial large ribosomal subunit assembly;GO:0000451 rRNA 2'-O-methylation;GO:0001510 RNA methylation", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9HC36-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KM6-1", "uniprot_id": [ { "id": "Z512B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KM6", "type": "external" } ], "mass": 97264.0, "length": 892, "protein_name": "Zinc finger protein 512B", "gene_name": "ZNF512B", "organism": "Human", "refseq_name": "zinc finger protein 512B", "refseq_ac": [ { "id": "NP_065764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065764", "type": "external" } ], "gene_names_uniprotkb": "ZNF512B; KIAA1196", "gene_names_refseq": "GM632; ZNF512B", "protein_names_uniprotkb": "Zinc finger protein 512B", "protein_names_refseq": "zinc finger protein 512B", "tax_id": 9606, "disease": "", "pathway": " (hsa:57473); (R-HSA-9013424)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "14521508;17081983;17355222;18452278;18669648;19007248;19691289;20058876;20068231;20639536;21665992;22339630;23168171;23481700;25645385;25892735;26154972;26992070;27846572;28514659;29237092;29242379;29351928;29493099;29508533;29557506;29713939;29769354;30059200;30379171;30429286;31092671;31217245;31492838;31844290;31871319;32119511;32157095;32502341;32574038;33141586;33387304;33633747;33968037;34087483;34211107;34846842;35051231;35132862;35254053;35289036;35580925;37541260;38665916;39302247;39460621;39531497;39534244;40596516;9778532", "class_list": "", "function": "A functional SNP (rs2275294) in ZNF512B was found to be significantly associated with amyotrophic lateral sclerosis in Japanese., [RefSeq, PubMed]; Association of Single Nucleotide Polymorphism at rs2275294 in the ZNF512B Gene with Prognosis in Amyotrophic Lateral Sclerosis., [RefSeq, PubMed]; Evidence that GAM/ZFp/ZNF512B may potentially maintain homeostasis by affecting the levels of regulators such as E2F1 and Ras, by modulating miR-17-92 miRNAs, by interacting with Drosha, and by interfering with TGFbeta signaling., [RefSeq, PubMed]; Five case-control studies involving 2559 patients with sporadic amyotrophic lateral sclerosis (ALS) and 5740 controls were analyzed. Based on random-effects meta-analysis, the ZNF512B polymorphism rs2275294 was associated with increased risk of ALS disease in an allele model. The available evidence suggests that the ZNF512B polymorphism rs2275294 is associated with ALS risk. Review article, [RefSeq, PubMed]; Involved in transcriptional regulation by repressing gene expression (PubMed:39460621). Associates with the nucleosome remodeling and histone deacetylase (NuRD) complex, which promotes transcriptional repression by histone deacetylation and nucleosome remodeling (PubMed:39460621). Sequence-specific DNA-binding protein that recognizes repetitive and non-consecutive TTC sequences in pericentric repeat and initiate heterochromatin formation through interaction with SUV39H1/2 methyltransferases which catalyze histone H3K9 methylation (By similarity)., [UniProtKB, PubMed, UniProtKB]; The objective of our study was to examine whether the new single-nucleotide polymorphism in the ZNF512B gene might influence the phenotype of amyotrophic lateral sclerosis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 19, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "Q08AK9;Q9ULM4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:1902894 negative regulation of miRNA transcription;GO:0140719 constitutive heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q96KM6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N19-1", "uniprot_id": [ { "id": "G137A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N19", "type": "external" } ], "mass": 46059.0, "length": 417, "protein_name": "Integral membrane protein GPR137", "gene_name": "GPR137", "organism": "Human", "refseq_name": "integral membrane protein GPR137 isoform 2", "refseq_ac": [ { "id": "NP_001164351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164351", "type": "external" } ], "gene_names_uniprotkb": "GPR137; C11orf4; GPR137A; TM7SF1L1", "gene_names_refseq": "C11orf4; GPR137A; GPR137; TM7SF1L1", "protein_names_uniprotkb": "Integral membrane protein GPR137; Transmembrane 7 superfamily member 1-like 1 protein", "protein_names_refseq": "integral membrane protein GPR137 isoform 2; integral membrane protein GPR137; transmembrane 7 superfamily member 1-like 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:56834)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;24715725;24870220;25490967;25496438;25576301;25892735;27846572;29739299;29769354;30315122;31036939;31464892;32350084;32938616;33912179;34357683;35051231;35318648;36010968;36920340;38163861", "class_list": "", "function": "ALKBH1 contributes to renal cell carcinoma progression by reducing N6-methyladenine of GPR137., [RefSeq, PubMed]; GPR137 as an essential player in urinary bladder cancer cell growth Erratum:[Biotechnol Appl Biochem. 2023 Aug;70(4):1560. doi: 10.1002/bab.2499. PMID: 37559496], [RefSeq, PubMed]; GPR137 inactivates Hippo signaling to promote gastric cancer cell malignancy. Publication Status: Online-Only, [RefSeq, PubMed]; High GRP137 expression is associated with metastasis in ovarian cancer., [RefSeq, PubMed]; Knockdown of GPR137 in HepG2 cells led to cell cycle arrest at G0/G1 phase and G2/M phase, and induced cell apoptosis, as determined by flow cytometry analysis, which contributed to cell growth inhibition., [RefSeq, PubMed]; Lysosomal integral membrane protein that may regulate MTORC1 complex translocation to lysosomes (PubMed:31036939). May play a role in autophagy (PubMed:31036939)., [UniProtKB, PubMed]; May activate Wnt/beta-catenin signaling to modulate epithelial cell function., [UniProtKB, UniProtKB]; Our results indicated that GPR137 is involved in the progression of human glioma, [RefSeq, PubMed]; Results show the expression of GPR137 in patients with bladder cancer was significantly higher than that in normal tissues at both mRNA and protein levels. The expression of GPR137 was associated with tumor size and low survival rate., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DTG7;B7Z7M1;Q4G0Y9;Q8N4K6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005765 lysosomal membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0010506 regulation of autophagy;GO:0006914 autophagy;GO:0045671 negative regulation of osteoclast differentiation;GO:0045779 negative regulation of bone resorption", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96N19-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31644-1", "uniprot_id": [ { "id": "GBRA5_HUMAN", "url": "https://www.uniprot.org/uniprot/P31644", "type": "external" } ], "mass": 52146.0, "length": 462, "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-5", "gene_name": "GABRA5", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit alpha-5 precursor", "refseq_ac": [ { "id": "NP_000801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000801", "type": "external" } ], "gene_names_uniprotkb": "GABRA5", "gene_names_refseq": "DEE79; EIEE79; GABRA5", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit alpha-5; GABA(A) receptor subunit alpha-5; GABAAR subunit alpha-5", "protein_names_refseq": "GABA(A) receptor subunit alpha-5; GABAAR subunit alpha-5; gamma-aminobutyric acid (GABA) A receptor, alpha 5; gamma-aminobutyric acid receptor subunit alpha-5 precursor; gamma-aminobutyric acid type A receptor alpha5 subunit", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 79 (Disease Ontology:DOID:0112215); autistic disorder (Disease Ontology:DOID:12849); depressive disorder (Disease Ontology:DOID:1596); bipolar disorder (Disease Ontology:DOID:3312)", "pathway": " (hsa:2558); (R-HSA-977443)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10449790;10542332;11237011;1315307;1321750;14993607;15024690;1664410;17364682;17370265;17398006;18382465;1849271;19828786;2465923;28411811;2847710;28860189;29557506;29961870;30140029;31056671;34530807;35562522;35822698;36469977;37217939;8264558;8382267;8388764;8391122;8632757;8719414;8719416;9205108", "class_list": "", "function": "Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:29961870, PubMed:30140029, PubMed:31056671). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (PubMed:30140029). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:14993607, PubMed:30140029). GABAARs containing alpha-5/GABRA5 subunits are mainly extrasynaptic and contribute to the tonic GABAergic inhibition in the hippocampus (By similarity). Extrasynaptic alpha-5-containing GABAARs in CA1 pyramidal neurons play a role in learning and memory processes (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population. Publication Status: Online-Only, [RefSeq, PubMed]; Effects of alpha5 GABAA receptor modulation on social interaction, memory, and neuroinflammation in a mouse model of Alzheimer's disease., [RefSeq, PubMed]; GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands., [RefSeq, PubMed]; GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Novel variants in GABAA receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K338;Q14DC2;Q53XL6;Q9NYT3;Q9NYT4;Q9NYT5", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0050811 GABA receptor binding;GO:0004890 GABA-A receptor activity;GO:0038023 signaling receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0098794 postsynapse;GO:0034707 chloride channel complex;GO:0032809 neuronal cell body membrane", "go_biological_process": "GO:0060384 innervation;GO:0007165 signal transduction;GO:0007214 gamma-aminobutyric acid signaling pathway;GO:1902476 chloride transmembrane transport;GO:0060119 inner ear receptor cell development", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P31644-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UU5-1", "uniprot_id": [ { "id": "GGN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UU5", "type": "external" } ], "mass": 66699.0, "length": 652, "protein_name": "Gametogenetin", "gene_name": "GGN", "organism": "Human", "refseq_name": "gametogenetin", "refseq_ac": [ { "id": "NP_689870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689870", "type": "external" } ], "gene_names_uniprotkb": "GGN", "gene_names_refseq": "GGN", "protein_names_uniprotkb": "Gametogenetin", "protein_names_refseq": "gametogenetin", "tax_id": 9606, "disease": "spermatogenic failure 69 (Disease Ontology:DOID:0070568)", "pathway": " (hsa:199720)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;12574169;21114676;23481700;24715725;25505266;27846572;29412153;29557506;30429286;31985809;32157095;32387766;33108537;33592498;34932366;35051231;36010968;38253038", "class_list": "", "function": "GGN played a tumor-promoting role in bladder cancer through regulation of NFkappaB/caspase3-mediated apoptosis signaling., [RefSeq, PubMed]; GGN1 and GGN3, interacted with POG, regulated the localization of POG, and played a role in spermatogenesis., [RefSeq, PubMed]; May be involved in spermatogenesis., [UniProtKB]; No significant associations with fertility status were observed, suggesting that variance in the GGN gene are not a common cause of oligospermic infertility in Australian men, [RefSeq, PubMed]; This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q7RTU6;Q86UU4;Q8NAA1", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006302 double-strand break repair;GO:0007276 gamete generation", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q86UU5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60893-1", "uniprot_id": [ { "id": "GPR85_HUMAN", "url": "https://www.uniprot.org/uniprot/P60893", "type": "external" } ], "mass": 41995.0, "length": 370, "protein_name": "Probable G protein-coupled receptor 85", "gene_name": "GPR85", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 85", "refseq_ac": [ { "id": "NP_001139737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139737", "type": "external" } ], "gene_names_uniprotkb": "GPR85; SREB2", "gene_names_refseq": "GPR85; SREB2; SREB", "protein_names_uniprotkb": "Probable G protein-coupled receptor 85; Super conserved receptor expressed in brain 2", "protein_names_refseq": "probable G-protein coupled receptor 85; seven transmembrane helix receptor; super conserved receptor expressed in brain 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54329)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10833454;10978537;11237011;15893849;18413613;22968816;25780553;29557506", "class_list": "", "function": "Members of the G protein-coupled receptor (GPCR) family, such as GPR85, have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli, such as neurotransmitters, hormones, or light, induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins (Matsumoto et al., 2000 [PubMed 10833454]).[supplied by OMIM, Aug 2008]., [RefSeq]; Orphan receptor., [UniProtKB, UniProtKB, UniProtKB]; Risk-associated variants in GPR85 are associated with phenotypes similar to those found in patients with schizophrenia., [RefSeq, PubMed]; The areas expressing high levels of SREB2 mRNA overlap with brain structures known to possess high levels of plasticity, namely, the hippocampal formation, olfactory system, and supraoptic and paraventricular nuclei., [RefSeq, PubMed]; Theses data implicate SREB2 as a potential risk factor for psychiatric disorders., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q9JHI6;Q9NPD1", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P60893-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCW6-1", "uniprot_id": [ { "id": "GLT11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCW6", "type": "external" } ], "mass": 68919.0, "length": 608, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 11", "gene_name": "GALNT11", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 11 isoform 1", "refseq_ac": [ { "id": "NP_071370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071370", "type": "external" } ], "gene_names_uniprotkb": "GALNT11", "gene_names_refseq": "GALNAC-T11; GALNACT11; GALNT11", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 11; 2.4.1.41; GalNAc-T11; Polypeptide GalNAc transferase 11; Protein-UDP acetylgalactosaminyltransferase 11; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11; pp-GaNTase 11", "protein_names_refseq": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11); polypeptide GalNAc transferase 11; polypeptide N-acetylgalactosaminyltransferase 11 isoform 1; pp-GaNTase 11; protein-UDP acetylgalactosaminyltransferase 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:63917); (R-HSA-913709)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;10330415;10430883;10753916;11042166;11237011;11283017;11304796;11821425;11925450;12853948;12855678;1329093;14702039;15486459;15489334;15560372;15620693;16207894;17113861;18537974;20422447;20547088;21282601;22183981;24076351;24190977;24226769;24643043;25493955;29557506;30429286;30459171;32350084;32938616;33968037;34509645;35051231;35251023;37074911;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Evidence suggests that CLL patient samples harbor aberrant O-glycosylation highlighted by Tn antigen expression and that the over-expression of GALNT11 constitutes a new molecular marker for CLL, [RefSeq, PubMed]; GALNT11, the human ortholog to Drosophila melanogaster pgant35A, was shown not to support rescue of the l(2)35Aa lethality during Drosophila embryogenesis., [RefSeq, PubMed]; Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O-glycosylation of NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). Polypeptide N-acetylgalactosaminyltransferases catalyze the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same enzyme activity toward MUC1, MUC4, and EA2 than GALNT1. Not involved in glycosylation of erythropoietin (EPO)., [UniProtKB, PubMed, PubMed, PubMed]; Possible role in the deterioration of kidney function [meta-analysis], [RefSeq, PubMed]; Single nucleiotide polymorphism in the GALNT11 genes were investigated to assess allele frequencies in different populations. This SNP would be useful marker for forensic individualization, in particular, as ancestry-informative markers. GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 682, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KWF4;Q6PCD1;Q9H6C2;Q9H6Z5;Q9UDR8", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005112 Notch binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0061314 Notch signaling involved in heart development;GO:0007220 Notch receptor processing;GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0060271 cilium assembly", "synthesized_glycan_count": 7434, "hit_score": 5.5, "record_id": "Q8NCW6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJ42-1", "uniprot_id": [ { "id": "GP160_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJ42", "type": "external" } ], "mass": 39787.0, "length": 338, "protein_name": "Probable G protein-coupled receptor 160", "gene_name": "GPR160", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 160", "refseq_ac": [ { "id": "NP_055188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055188", "type": "external" } ], "gene_names_uniprotkb": "GPR160; GPCR150", "gene_names_refseq": "GPCR150; GPCR1; GPR160", "protein_names_uniprotkb": "Probable G protein-coupled receptor 160; G protein-coupled receptor GPCR1; hGPCR1", "protein_names_refseq": "G-protein coupled receptor GPCR1; hGPCR1; probable G-protein coupled receptor 160; putative G protein-coupled receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:26996)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;11466977;12044878;19851296;20198315;24190977;26871479;27259691;27862975;28832583;29242379;30779550;31844290;32387766;33981976;34168114;35051231;35580925", "class_list": "", "function": "GPR160 is a potential biomarker associated with prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Orphan receptor., [UniProtKB]; Our data suggest that the expression level of endogenous GPR160 is associated with the pathogenesis of prostate cancer, [RefSeq, PubMed]; These findings suggest an important role of GPR160 in regulating the entry of BCG into macrophages by targeting the ERK signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DNQ2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9UJ42-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAK6-1", "uniprot_id": [ { "id": "OLIG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAK6", "type": "external" } ], "mass": 27905.0, "length": 271, "protein_name": "Oligodendrocyte transcription factor 1", "gene_name": "OLIG1", "organism": "Human", "refseq_name": "oligodendrocyte transcription factor 1", "refseq_ac": [ { "id": "NP_620450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620450", "type": "external" } ], "gene_names_uniprotkb": "OLIG1; BHLHB6; BHLHE21", "gene_names_refseq": "BHLHB6; BHLHE21; OLIG1", "protein_names_uniprotkb": "Oligodendrocyte transcription factor 1; Class B basic helix-loop-helix protein 6; Class E basic helix-loop-helix protein 21; Oligo1; bHLHb6; bHLHe21", "protein_names_refseq": "basic domain, helix-loop-helix protein, class B, 6; class B basic helix-loop-helix protein 6; class E basic helix-loop-helix protein 21; oligo1; oligodendrocyte lineage transcription factor 1; oligodendrocyte transcription factor 1; oligodendrocyte-specific bHLH transcription factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:116448)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10719889;11237011;11526205;14516699;23165259;23720758;25930075;28253550;29557506;31154438;31844290;32983136;38324685", "class_list": "", "function": "Olig1 has a critical function in regulation of postnatal neural progenitor cell production in response to Noggin., [RefSeq, PubMed]; Olig1 is a Smad cofactor involved in TGF-beta-induced cell motility, [RefSeq, PubMed]; Orchestrates progenitor cell fates during cortical gliogenesis and gliomagenesis. In cooperation with OLIG2, activates oligodendrocyte precursor cells (OPCs) formation while repressing the generation of olfactory bulb interneuron intermediate progenitors (OBIN) through transcriptional regulation of GSX2. Mechanistically, binds and silences multiple conserved enhancer elements of GSX2. Cooperates with OLIG2 to establish the pMN domain of the embryonic neural tube (By similarity)., [UniProtKB, PubMed, UniProtKB]; This study demonstrated that increased expression of mRNA of OLIG1 in ventral prefrontal white matter in major depressive disorder., [RefSeq, PubMed]; This study review OLIG1 have developmental functions in patterning, neuron subtype specification and the formation of oligodendrocytes and play the role in the postnatal brain during repair processes and in neurological disease states. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7RTS0", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0070888 E-box binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0014003 oligodendrocyte development;GO:0061564 axon development;GO:0007423 sensory organ development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8TAK6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51817-1", "uniprot_id": [ { "id": "PRKX_HUMAN", "url": "https://www.uniprot.org/uniprot/P51817", "type": "external" } ], "mass": 40896.0, "length": 358, "protein_name": "cAMP-dependent protein kinase catalytic subunit PRKX", "gene_name": "PRKX", "organism": "Human", "refseq_name": "cAMP-dependent protein kinase catalytic subunit PRKX", "refseq_ac": [ { "id": "NP_005035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005035", "type": "external" } ], "gene_names_uniprotkb": "PRKX; PKX1", "gene_names_refseq": "PKX1; PRKX", "protein_names_uniprotkb": "cAMP-dependent protein kinase catalytic subunit PRKX; 2.7.11.1; PrKX; Protein kinase PKX1; Protein kinase X-linked; Protein kinase X; Serine/threonine-protein kinase PRKX", "protein_names_refseq": "cAMP-dependent protein kinase catalytic subunit PRKX; protein kinase PKX1; protein kinase X-linked; protein kinase X; serine/threonine-protein kinase PRKX", "tax_id": 9606, "disease": "", "pathway": " (hsa:5613); (R-HSA-111931); (R-HSA-442720); (R-HSA-9660821); (R-HSA-9664323)", "pathway_count": 5, "publication_count": 84, "publication_id_list": "10026146;10496952;10579907;10861086;12036966;12082174;12106601;12117970;12150772;12417718;12860470;1325798;1372004;15161916;15879134;15879576;16236808;16491121;16921024;17908236;17980165;18070890;18577758;18818202;19244110;19367327;20819953;21037092;21684272;22020623;23675550;24273487;24714562;25418920;2553705;2573431;25892735;26154972;26252946;26811146;26929215;26992070;27630294;27846572;27920218;28063628;28860189;29242379;29393594;29493099;29557506;29632046;29769354;29786170;3127824;31844290;32161166;32265295;32387766;32938616;33141586;33717175;33912179;7517665;7522622;7530449;7633447;8007951;8226994;8340414;8522976;8527267;8657103;8862523;9000504;9042338;9050880;9162098;9302280;9314552;9651336;9733829;9857068;9860982", "class_list": "", "function": "Findings reveals a major role of PRKX, TTBK2 and RSK4 in triggering Sunitinib resistance formation; data suggest transcriptional regulation of these kinases together with other proteins might play an important role in formation of Sunitinib resistance by affecting transcription factors, [RefSeq, PubMed]; PRKX, WNT3 and WNT16 genes, belonging to the WNT signaling pathway, are involved in the tumorigenic process of nodular basal cell carcinoma, [RefSeq, PubMed]; Serine/threonine protein kinase regulated by and mediating cAMP signaling in cells. Acts through phosphorylation of downstream targets that may include CREB, SMAD6 and PKD1 and has multiple functions in cellular differentiation and epithelial morphogenesis. Regulates myeloid cell differentiation through SMAD6 phosphorylation. Involved in nephrogenesis by stimulating renal epithelial cell migration and tubulogenesis. Also involved in angiogenesis through stimulation of endothelial cell proliferation, migration and vascular-like structure formation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The characteristics and developmental functions of PRKX. [review] Review article, [RefSeq, PubMed]; This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004691 cAMP-dependent protein kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005952 cAMP-dependent protein kinase complex", "go_biological_process": "GO:0060562 epithelial tube morphogenesis;GO:2000696 regulation of epithelial cell differentiation involved in kidney development;GO:0060993 kidney morphogenesis;GO:0001525 angiogenesis;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P51817-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30047-1", "uniprot_id": [ { "id": "GFRP_HUMAN", "url": "https://www.uniprot.org/uniprot/P30047", "type": "external" } ], "mass": 9698.0, "length": 84, "protein_name": "GTP cyclohydrolase 1 feedback regulatory protein", "gene_name": "GCHFR", "organism": "Human", "refseq_name": "GTP cyclohydrolase 1 feedback regulatory protein", "refseq_ac": [ { "id": "NP_005249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005249", "type": "external" } ], "gene_names_uniprotkb": "GCHFR; GFRP", "gene_names_refseq": "GCHFR; GFRP; HsT16933; P35", "protein_names_uniprotkb": "GTP cyclohydrolase 1 feedback regulatory protein; GFRP; GTP cyclohydrolase I feedback regulatory protein; p35", "protein_names_refseq": "GTP cyclohydrolase 1 feedback regulatory protein; GTP cyclohydrolase I feedback regulatory protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:2644); (R-HSA-1474151)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10531334;11237011;11580249;11799107;11825621;11879202;1286669;15476407;16696853;16778797;18511317;1883349;19666465;19926872;20351752;20628086;25418920;26154972;26929215;27452731;27920218;28063628;28218747;28649982;28904123;29393594;29437277;29557506;29632046;30315122;31020640;31154438;31844290;32357974;32488085;32983136;33043033;33141586;33229582;33387654;33392160;33537174;34185709;3536512;7563095;7663943;8068008;8137809;8137944;8307017;8502995", "class_list": "", "function": "A hybrid approach reveals the allosteric regulation of GTP cyclohydrolase I., [RefSeq, PubMed]; Bacterial lipopolysaccharide down-regulates expression of GTP cyclohydrolase I feedback regulatory protein, [RefSeq, PubMed]; Biophysical and structural investigation of the regulation of human GTP cyclohydrolase I by its regulatory protein GFRP., [RefSeq, PubMed]; Crystal structure, [RefSeq, PubMed]; GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008]., [RefSeq]; Homozygous individuals for the TT haplotype were less likely to respond to the SSRI fluoxetine than to the nortriptyline suggesting a biological process through which GCHFR promoter variants might influence antidepressant response. GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Studies provide a new mechanism for regulation of endothelial GTPCH-1 by its phosphorylation and interplay with GFRP., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R4L6;B7ZLM8;Q2M1Q2;Q99749", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0044549 GTP cyclohydrolase binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030425 dendrite", "go_biological_process": "GO:0009890 negative regulation of biosynthetic process;GO:0045428 regulation of nitric oxide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P30047-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06744-1", "uniprot_id": [ { "id": "G6PI_HUMAN", "url": "https://www.uniprot.org/uniprot/P06744", "type": "external" } ], "mass": 63147.0, "length": 558, "protein_name": "Glucose-6-phosphate isomerase", "gene_name": "GPI", "organism": "Human", "refseq_name": "glucose-6-phosphate isomerase isoform 2", "refseq_ac": [ { "id": "NP_000166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000166", "type": "external" } ], "gene_names_uniprotkb": "GPI", "gene_names_refseq": "AMF; CNSHA4; GNPI; GPI; NLK; PGI; PHI; SA-36; SA36", "protein_names_uniprotkb": "Glucose-6-phosphate isomerase; 5.1.3.-; 5.3.1.9; AMF; Autocrine motility factor; D-hexose-6-phosphate anomerase; GPI; Glucose-6-phosphate C2-epimerase; NLK; Neuroleukin; PGI; PHI; Phosphoglucose isomerase; Phosphohexose isomerase; SA-36; Sperm antigen 36", "protein_names_refseq": "D-hexose-6-phosphate anomerase; autocrine motility factor; glucose-6-phosphate C2-epimerase; glucose-6-phosphate isomerase isoform 2; hexose monophosphate isomerase; hexosephosphate isomerase; neuroleukin; oxoisomerase; phosphoglucose isomerase; phosphohexomutase; phosphohexose isomerase; phosphosaccharomutase; sperm antigen-36", "tax_id": 9606, "disease": "congenital nonspherocytic hemolytic anemia 4 (Disease Ontology:DOID:0051005); intellectual disability (Disease Ontology:DOID:1059); heart disease (Disease Ontology:DOID:114); Parkinson's disease (Disease Ontology:DOID:14330); congenital nonspherocytic hemolytic anemia (Disease Ontology:DOID:2861); neuromuscular disease (Disease Ontology:DOID:440); congenital hemolytic anemia (Disease Ontology:DOID:589); acute myeloid leukemia (Disease Ontology:DOID:9119); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:2821); (R-HSA-5628897); (R-HSA-6798695); (R-HSA-70171); (R-HSA-70263)", "pathway_count": 5, "publication_count": 260, "publication_id_list": "10.1101/2023.09.13.557529;10229653;10329961;10714828;10716435;10727272;10745013;10980602;11004567;11029283;11034341;11237011;11340051;11371164;11437381;11486029;11506403;11545734;11780755;11851336;11959846;12054796;12093795;12161445;12163179;12203114;12437512;12438239;12453409;12527360;12573240;12616532;12714747;12777791;1278465;12869586;12906785;12965206;12965222;13298683;13538944;14651849;14718531;14722102;15105503;15223;15589136;15637053;15710582;16139798;16140933;16408927;16413492;16511037;16636147;16728594;16760263;16839880;17145369;17298220;17486094;17540029;17804405;18198340;18337460;18344994;183598;18449899;18613815;18669648;18692468;1871135;18910716;18910717;18927083;19113821;19118303;19439913;19487573;19608861;19664994;19690332;19822145;20068231;20080666;20182617;20351271;20378837;21750704;21908771;21949678;21958598;22219026;22363791;22424782;22645359;23168256;23186163;23251456;23328677;23446454;23481700;23506893;23650620;23775793;2387591;24066844;24275569;24366874;24383451;2462567;24718924;25418920;25502872;25579166;25645385;25648650;26024233;26154972;26652033;26853435;26992070;27090790;27726376;27862975;27893789;27920218;2793178;28218747;28228285;2846554;28467828;28514659;28803808;28855257;28904123;29127146;29242379;29314611;29317506;29331515;29393594;29437277;29493099;29508533;29557506;2960695;29632711;29741879;29774024;29775581;29786170;29789417;29992549;30315122;30397120;30410026;30429286;30484775;30517626;30573663;30779550;31020640;31154438;31217245;3170585;31844290;3208766;32119511;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33073968;33141586;33214551;33298915;33392160;3352745;3355497;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34093574;34171305;34357683;34433824;34509645;3453121;34704234;34725712;34782236;34932366;35051231;35138101;35154160;35251023;3529090;35561310;35580925;36010968;36215666;36241641;36284347;37307481;37938771;38665916;4076245;40930100;4413246;4555506;4827367;5009693;5666113;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7573034;7717389;7825568;7979252;7989588;8117307;8119488;8211187;8325892;8447317;8499925;8571957;8645161;8692836;8786021;8822952;8822954;9382095;9428641;9438414;9446754;9493266;9585002;9657976;9678974;9758626;9856489;9926927", "class_list": "glycogene", "function": "Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report., [RefSeq, PubMed]; Elevated Serum Glucose-6-Phosphate Isomerase Level in Patients with Knee Osteoarthritis., [RefSeq, PubMed]; Isomerase that catalyzes the conversion of alpha-D-glucose-6-phosphate to beta-D-fructose-6-phosphate, the second step in glycolysis, and the reverse reaction in gluconeogenesis, within the cytoplasm. Also shows C2-epimerase activity, interconverting D-glucose-6-phosphate (G6P) and D-mannose-6-phosphate (M6P). Also displays anomerase activity, interconverting alpha and beta-anomeric forms of G6P, D-fructose-6-phosphate and M6P. In addition to its metabolic role, this enzyme functions extracellularly as a cytokine: acts as autocrine motility factor (AMF), a secreted angiogenic factor that enhances endothelial cell motility. Functions as neuroleukin, a neurotrophic factor supporting the survival of spinal and sensory neurons. Released by lectin-stimulated T-cells to induce immunoglobulin secretion., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; PGI is a moonlighting protein that functions as a cytosolic enzyme involved in glycolysis and gluconeogenesis, and as cytokine through binding to its cell surface receptor., [RefSeq, PubMed]; The results demonstrate that the enzymatic activity of PGI is not essential for either receptor binding or cytokine function of human PGI., [RefSeq, PubMed]; This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 664, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 9, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DG39;Q9BRD3;Q9BSK5;Q9UHE6", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": 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"id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity;GO:0004347 glucose-6-phosphate isomerase activity;GO:0016857 racemase and epimerase activity, acting on carbohydrates and derivatives", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0016020 membrane;GO:0034774 secretory granule lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007611 learning or memory;GO:0043066 negative regulation of apoptotic process;GO:0005975 carbohydrate metabolic process;GO:0010595 positive regulation of endothelial cell migration;GO:0006094 gluconeogenesis", "synthesized_glycan_count": 0, "hit_score": 26.9, "record_id": "P06744-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95819-1", "uniprot_id": [ { "id": "M4K4_HUMAN", "url": "https://www.uniprot.org/uniprot/O95819", "type": "external" } ], "mass": 142101.0, "length": 1239, "protein_name": "Mitogen-activated protein kinase kinase kinase kinase 4", "gene_name": "MAP4K4", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase kinase 4 isoform 4", "refseq_ac": [ { "id": "NP_001229488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229488", "type": "external" } ], "gene_names_uniprotkb": "MAP4K4; HGK; KIAA0687; NIK", "gene_names_refseq": "FLH21957; HEL-S-31; HGK; MAP4K4; MEKKK4; NIK", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase kinase 4; 2.7.11.1; HPK/GCK-like kinase HGK; MAPK/ERK kinase kinase kinase 4; MEK kinase kinase 4; MEKKK 4; Nck-interacting kinase", "protein_names_refseq": "HPK/GCK-like kinase HGK; MAPK/ERK kinase kinase kinase 4; MEK kinase kinase 4; Ste20 group protein kinase HGK; epididymis secretory protein Li 31; hepatocyte progenitor kinase-like/germinal center kinase-like kinase; mitogen-activated protein kinase kinase kinase kinase 4 isoform 4; nck-interacting kinase", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); epilepsy (Disease Ontology:DOID:1826); hepatitis B (Disease Ontology:DOID:2043); lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:9448); (R-HSA-2559580)", "pathway_count": 2, "publication_count": 140, "publication_id_list": "10.1101/2023.09.13.557529;10347217;10722742;10772813;10871633;11237011;11564866;12134156;12189133;12193592;12387898;12421820;12435631;12612079;12808055;13130464;14507994;14532106;14966141;15287722;15563468;15866172;16186825;16337592;16436515;16826196;17210787;17254968;17255097;17332741;17344414;17344846;17395714;17765224;17825402;17875933;18220336;18365017;18669648;18691976;18793328;19369195;19451217;19451218;19462008;19528227;19690332;20068231;21406692;21690388;21986495;22020331;22325352;22336108;22424782;22683641;23186163;23481700;24275569;25576301;25892735;26154972;26437443;26992070;27600516;27846572;28218747;28228285;28411811;28832583;28834231;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30779550;30833945;31154438;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33298915;33592498;33633747;33912179;33968037;33981976;34019948;34171305;34185709;34509645;35051231;35132862;35251023;35318648;35580925;36284347;37938771;38724987;38844365;7535770;7588633;7816143;7859739;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8741839;8774846;8846784;8974401;9030721;9162092;9195981;9529249;9564042;9628874;9768359;9824166;9890973", "class_list": "", "function": "MAP4K4 exacerbates cardiac microvascular injury in diabetes by facilitating S-nitrosylation modification of Drp1. Publication Status: Online-Only, [RefSeq, PubMed]; MAP4K4 is a putative effector of Rap2, a Ras family small GTP-binding protein, mediating the activation of JNK by Rap2, [RefSeq, PubMed]; Role of Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 Signaling in Liver and Metabolic Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine kinase that plays a role in the response to environmental stress and cytokines such as TNF. Appears to act upstream of the JUN N-terminal pathway (PubMed:9890973). Activator of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. MAP4Ks act in parallel to and are partially redundant with STK3/MST2 and STK4/MST2 in the phosphorylation and activation of LATS1/2, and establish MAP4Ks as components of the expanded Hippo pathway (PubMed:26437443). Phosphorylates SMAD1 on Thr-322 (PubMed:21690388)., [UniProtKB, PubMed, PubMed, PubMed]; The STE20 kinase HGK is broadly expressed in human tumor cells and can modulate cellular transformation, invasion, and adhesion., [RefSeq, PubMed]; The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 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"2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004111 creatine kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0008349 MAP kinase kinase kinase kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005925 focal adhesion", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0030335 positive regulation of cell migration;GO:0035556 intracellular signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0000165 MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "O95819-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47869-1", "uniprot_id": [ { "id": "GBRA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P47869", "type": "external" } ], "mass": 51326.0, "length": 451, "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-2", "gene_name": "GABRA2", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor", "refseq_ac": [ { "id": "NP_000798", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000798", "type": "external" } ], "gene_names_uniprotkb": "GABRA2", "gene_names_refseq": "DEE78; EIEE78; GABRA2", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit alpha-2; GABA(A) receptor subunit alpha-2; GABAAR subunit alpha-2", "protein_names_refseq": "GABA(A) receptor subunit alpha-2; GABAAR subunit alpha-2; gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor; gamma-aminobutyric acid type A receptor alpha2 subunit", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); developmental and epileptic encephalopathy 78 (Disease Ontology:DOID:0112214); autistic disorder (Disease Ontology:DOID:12849); alcohol use disorder (Disease Ontology:DOID:1574); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:2555); (R-HSA-977443)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10449790;10542332;11237011;1315307;1321750;15024690;1664410;17364682;17398006;18382465;1849271;19828786;2465923;2847710;29422393;29961870;31032849;32157095;32938616;32983136;33968037;34086081;34932366;35051231;35580925;36422192;36469977;8264558;8382267;8391122;8632757;8719414;8719416", "class_list": "", "function": "Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790, PubMed:29961870, PubMed:31032849). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interfaces (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:10449790). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (By similarity). The alpha-2 subunit exhibits synaptogenic activity together with beta-2 and very little to no activity together with beta-3, the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed]; GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]., [RefSeq]; Gabra2 is a genetic modifier of Dravet syndrome in mice., [RefSeq, PubMed]; Novel variants in GABAA receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy., [RefSeq, PubMed]; Prospective DNA Methylation Analysis of the CpG GABRA2 Receptor Subunit in Alcohol Dependence during Detoxification. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K0U7;B7Z1H8;Q59G14", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0004890 GABA-A receptor activity;GO:0008503 benzodiazepine receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0099507 ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0030424 axon;GO:0043025 neuronal cell body;GO:0098794 postsynapse", "go_biological_process": "GO:0007214 gamma-aminobutyric acid signaling pathway;GO:1902476 chloride transmembrane transport;GO:0051932 synaptic transmission, GABAergic;GO:1904862 inhibitory synapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P47869-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0R5-1", "uniprot_id": [ { "id": "GBP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0R5", "type": "external" } ], "mass": 68114.0, "length": 595, "protein_name": "Guanylate-binding protein 3", "gene_name": "GBP3", "organism": "Human", "refseq_name": "guanylate-binding protein 3 isoform 4", "refseq_ac": [ { "id": "NP_001306110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306110", "type": "external" } ], "gene_names_uniprotkb": "GBP3", "gene_names_refseq": "GBP3", "protein_names_uniprotkb": "Guanylate-binding protein 3; 3.6.5.-; GBP-3; GTP-binding protein 3; Guanine nucleotide-binding protein 3", "protein_names_refseq": "GTP-binding protein 3; guanine nucleotide-binding protein 3; guanylate-binding protein 3 delta C; guanylate-binding protein 3 isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:2635); (R-HSA-877300); (R-HSA-9948001); (R-HSA-9953170); (R-HSA-9956593)", "pathway_count": 5, "publication_count": 103, "publication_id_list": "10067896;10986460;11230166;11237011;11687658;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;16511497;17125875;17266443;18362138;18591661;20049711;20130243;20237496;20304997;20363976;21151871;22106366;23061660;23516580;24417533;25119034;25576301;28593173;28645896;29024643;29144452;29177860;29493099;29557506;30429286;30692621;31091448;31216343;31268602;32109412;32157095;32357974;32488085;32502341;32510692;32581219;32897882;32938616;32983136;33239784;33592498;33691108;33876762;33912179;33936100;33968037;34087483;34171305;34185709;34671164;34916628;35051231;35318648;35561310;35580925;35780181;36010968;36624349;37161254;37558421;37938771;38301888;39394410;40914422;7510216;7512561;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;8830800;9111318;9143706", "class_list": "", "function": "GBP3 promotes glioblastoma resistance to temozolomide by enhancing DNA damage repair., [RefSeq, PubMed]; Helical domain of hGBP3 cannot stimulate the second phosphate cleavage of GTP., [RefSeq, PubMed]; Interferon (IFN)-inducible GTPase that plays important roles in innate immunity against a diverse range of bacterial, viral and protozoan pathogens (PubMed:22106366). Hydrolyzes GTP very efficiently; GDP rather than GMP is the major reaction product (By similarity). Following infection, recruited to the pathogen-containing vacuoles or vacuole-escaped bacteria and acts as a positive regulator of inflammasome assembly by promoting the release of inflammasome ligands from bacteria (By similarity). Acts by promoting lysis of pathogen-containing vacuoles, releasing pathogens into the cytosol (By similarity). Following pathogen release in the cytosol, promotes recruitment of proteins that mediate bacterial cytolysis: this liberates ligands that are detected by inflammasomes, such as lipopolysaccharide (LPS) that activates the non-canonical CASP4/CASP11 inflammasome or double-stranded DNA (dsDNA) that activates the AIM2 inflammasome (By similarity). Exhibits antiviral activity against influenza virus (PubMed:22106366)., [UniProtKB, PubMed, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Shows the most prominent antiviral activity in epithelial cells., [UniProtKB, PubMed]; The function of guanylate binding protein 3 (GBP3) in human cancers by pan-cancer bioinformatics., [RefSeq, PubMed]; This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2A317;A6NF86;B2RTW0;F8UW81;Q05D54;Q5T8L8;Q5T8L9;Q6P3V3;Q9NV33", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.4.22.57", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.57", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0051607 defense response to virus;GO:0071222 cellular response to lipopolysaccharide;GO:0042742 defense response to bacterium;GO:0071346 cellular response to type II interferon;GO:0071356 cellular response to tumor necrosis factor", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9H0R5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ84-1", "uniprot_id": [ { "id": "GPC5C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ84", "type": "external" } ], "mass": 48193.0, "length": 441, "protein_name": "G protein-coupled receptor family C group 5 member C", "gene_name": "GPRC5C", "organism": "Human", "refseq_name": "G-protein coupled receptor family C group 5 member C isoform a precursor", "refseq_ac": [ { "id": "NP_001353191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001353191", "type": "external" } ], "gene_names_uniprotkb": "GPRC5C; PSEC0087; RAIG3", "gene_names_refseq": "GPRC5C; RAIG-3; RAIG3", "protein_names_uniprotkb": "G protein-coupled receptor family C group 5 member C; RAIG-3; Retinoic acid-induced gene 3 protein", "protein_names_refseq": "G-protein coupled receptor family C group 5 member C isoform a precursor; G-protein coupled receptor family C group 5 member C; orphan G-protein coupled receptor; retinoic acid responsive gene protein; retinoic acid-induced gene 3 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55890)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10945465;11237011;11311935;16303743;17525332;19054851;20068231;23186163;24275569;24715725;25892735;28228611;29242379;29331515;31844290;32157095;32938616;34087483;35051231;36010968;37639313", "class_list": "", "function": "Data suggest that agents (such as all-trans retinoic acid) that activate GPRC5C restore and/or maintain functional insulin-secreting cells; GPRC5C appears to play role in regulation of expression of genes controlling apoptosis, cell survival, and cell proliferation in insulin-secreting cells., [RefSeq, PubMed]; GPRC5C drives branched-chain amino acid metabolism in leukemogenesis., [RefSeq, PubMed]; The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; This retinoic acid-inducible G protein-coupled receptor provide evidence for a possible interaction between retinoid and G-protein signaling pathways., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5BUN4;Q2NL85;Q9NZG5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0030295 protein kinase activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0070062 extracellular exosome;GO:0030659 cytoplasmic vesicle membrane;GO:0031982 vesicle", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9NQ84-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16083-1", "uniprot_id": [ { "id": "NQO2_HUMAN", "url": "https://www.uniprot.org/uniprot/P16083", "type": "external" } ], "mass": 25919.0, "length": 231, "protein_name": "Ribosyldihydronicotinamide dehydrogenase [quinone]", "gene_name": "NQO2", "organism": "Human", "refseq_name": "ribosyldihydronicotinamide dehydrogenase [quinone] isoform 1", "refseq_ac": [ { "id": "NP_000895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000895", "type": "external" } ], "gene_names_uniprotkb": "NQO2; NMOR2", "gene_names_refseq": "DHQV; DIA6; NMOR2; NQO2; QR2", "protein_names_uniprotkb": "Ribosyldihydronicotinamide dehydrogenase [quinone]; 1.10.5.1; NRH dehydrogenase [quinone] 2; NRH:quinone oxidoreductase 2; QR2; Quinone reductase 2", "protein_names_refseq": "N-ribosyldihydronicotinamide:quinone reductase 2; NAD(P)H dehydrogenase, quinone 2; NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2; NAD(P)H quinone dehydrogenase 2; NRH:quinone oxidoreductase 2; quinone reductase 2; ribosyldihydronicotinamide dehydrogenase [quinone] isoform 1; ribosyldihydronicotinamide dehydrogenase", "tax_id": 9606, "disease": "agranulocytosis (Disease Ontology:DOID:12987); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); breast carcinoma (Disease Ontology:DOID:3459)", "pathway": " (hsa:4835); (R-HSA-211945)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10433694;10445380;10945627;11154734;11237011;11422004;12725862;12732646;1351198;15078100;15350128;15492766;15523003;15535985;16129418;16614850;16765324;1691923;17400359;18254726;18256025;18285471;18579530;18691976;19053771;19236722;19369195;19588076;19764817;20007405;20068231;20177059;20422440;20542992;22700792;22813719;23616950;23953689;24423752;24677340;24900196;25144769;25425164;25446851;25923589;26992070;28218747;28832583;2897122;29437277;29557506;29769354;30315122;31431515;31530632;32152082;32157095;32171872;32187464;32205870;32210741;32350084;32387766;32488085;32938616;33298915;33968037;33981976;35251023;35318648;36142607;38254976;7980644;8182056;8985016;9050836;9169443;9367528;9653080", "class_list": "", "function": "An Axis between the Long Non-Coding RNA HOXA11-AS and NQOs Enhances Metastatic Ability in Oral Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Cancer-associated variants of human NQO1: impacts on inhibitor binding and cooperativity. Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphisms and Pharmacogenomics of NQO2: The Past and the Future. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinones involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R492;Q5TD04", "ec_number_list": [ { "id": "1.10.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.10.5.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0009055 electron transfer activity;GO:0042803 protein homodimerization activity;GO:0071949 FAD binding;GO:0031404 chloride ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:1901662 quinone catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P16083-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF74-1", "uniprot_id": [ { "id": "WIPF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF74", "type": "external" } ], "mass": 46289.0, "length": 440, "protein_name": "WAS/WASL-interacting protein family member 2", "gene_name": "WIPF2", "organism": "Human", "refseq_name": "WAS/WASL-interacting protein family member 2", "refseq_ac": [ { "id": "NP_573571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_573571", "type": "external" } ], "gene_names_uniprotkb": "WIPF2; PP10631; WICH; WIRE", "gene_names_refseq": "WICH; WIPF2; WIRE", "protein_names_uniprotkb": "WAS/WASL-interacting protein family member 2; WASP-interacting protein-related protein; WIP- and CR16-homologous protein; WIP-related protein", "protein_names_refseq": "WAS/WASL-interacting protein family member 2; WASP-binding protein; WASP-interacting protein-related protein; WIP- and CR16-homologous protein; WIP-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:147179); (R-HSA-2029482); (R-HSA-5663213); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013409); (R-HSA-9664422)", "pathway_count": 7, "publication_count": 405, "publication_id_list": "10.1101/2023.09.13.557529;10219243;10232922;10464238;10490598;10496324;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10699171;10699464;10724160;10781580;10873802;10878810;10958683;10967094;10995437;11007481;11058585;11085924;11149925;11157975;11231582;11237011;11276226;11278486;11306516;11329366;11340081;11373293;11396949;11431473;11432776;11553796;11584276;11606631;11672528;11696321;11704860;11707441;11747816;11756552;11773441;11803464;11804587;11804589;11804590;11829459;11854399;11884391;11912491;11948177;11961559;12055636;12071859;12093360;12096337;12105426;12172552;12189515;12195014;12213210;12221096;12235133;12351724;12432077;12456725;12464619;12531887;12546821;12547822;12650940;12665586;12743368;12773384;12857875;12860998;12877655;12907671;12923183;1314888;14506234;14512443;14514689;1464587;14675773;14676198;14718541;15023524;15033976;15040784;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15452139;15485661;15498874;15507211;15579468;15601624;15611138;15657136;15710388;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16262445;16473593;16492808;16507994;16519628;16546099;16630611;16636067;16641196;16702231;16714282;16762923;16777452;16777849;16862148;16880808;16896804;16914516;16968698;17064668;17077126;17145773;17188549;17196961;17202194;17214551;17244649;17308335;17583407;17599059;17697703;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18070890;18218625;18249095;18347018;18363964;18391171;18396277;18426980;18653540;18669648;18786931;18835169;18838382;18929667;19269969;19494238;19605563;19673492;19713215;19741094;19934221;19955216;20068231;20400958;20460433;20679435;20810653;21037092;21148482;21419341;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22734669;22970203;22971344;23029280;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23675550;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24584464;24714562;24715725;2474607;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25505266;25576301;25645385;25704760;25721503;25795300;25862245;25880248;25892735;25963737;26129894;26154972;26299518;26375851;26529257;26598554;26728094;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;28028151;28114311;28196833;28228285;28514659;28649982;28657654;28825699;28832583;28860633;28904123;29089502;29237092;29242379;29358323;29382922;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30059200;30061681;30192525;30315122;30410026;30429286;30524438;30620550;30779550;30853411;31092671;31154438;31222486;31373491;31492838;31844290;31848261;31871319;31998317;32157095;32161166;32203420;32302585;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34561969;34932366;35051231;35132862;35318648;35513511;35561310;35580925;36010968;36241641;36284347;37217939;37938771;39531497;39534244;40596516;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7848918;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8809042;8810315;8816443;8939998;8986718;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9600938;9659915;9670022;9705280;9792683;9799231;9822598;9829970;9843499;9846874;9883880;9885284;9988689", "class_list": "", "function": "Plays an active role in the formation of cell surface protrusions downstream of activated PDGFB receptors. Plays an important role in actin-microspike formation through cooperation with WASL. May cooperate with WASP and WASL to induce mobilization and reorganization of the actin filament system., [UniProtKB, PubMed, PubMed]; The WASP-binding protein WIRE has a role in the regulation of the actin filament system downstream of the platelet-derived growth factor receptor, [RefSeq, PubMed]; This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8K0L3;Q658J8;Q71RE1;Q8TE44", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 41.8, "record_id": "Q8TF74-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52565-1", "uniprot_id": [ { "id": "GDIR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P52565", "type": "external" } ], "mass": 23207.0, "length": 204, "protein_name": "Rho GDP-dissociation inhibitor 1", "gene_name": "ARHGDIA", "organism": "Human", "refseq_name": "rho GDP-dissociation inhibitor 1 isoform a", "refseq_ac": [ { "id": "NP_001172006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001172006", "type": "external" } ], "gene_names_uniprotkb": "ARHGDIA; GDIA1", "gene_names_refseq": "ARHGDIA; GDIA1; HEL-S-47e; NPHS8; RHOGDI-1; RHOGDI", "protein_names_uniprotkb": "Rho GDP-dissociation inhibitor 1; Rho GDI 1; Rho-GDI alpha", "protein_names_refseq": "GDP-dissociation inhibitor, aplysia RAS-related 1; Rho GDP dissociation inhibitor (GDI) alpha; epididymis secretory sperm binding protein Li 47e; rho GDP-dissociation inhibitor 1 isoform a; rho GDP-dissociation inhibitor 1", "tax_id": 9606, "disease": "nephrotic syndrome type 8 (Disease Ontology:DOID:0080389); hypertension (Disease Ontology:DOID:10763); nephrotic syndrome (Disease Ontology:DOID:1184)", "pathway": " (hsa:396); (R-HSA-193634); (R-HSA-209563); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013407); (R-HSA-9013408)", "pathway_count": 10, "publication_count": 437, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10652265;10699171;10699464;10724160;10847683;10873388;10873802;10958683;11007481;11058585;11085924;11145705;11149925;11201742;11207612;11237011;11306516;11368848;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11809807;11864571;11884391;11912491;11919634;11948177;11961559;11967128;12071859;12093360;12096337;12172552;12177196;12195014;12221077;12221096;12351724;12376551;12426574;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12692556;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;14966521;15023524;15033976;15064355;15107133;15128850;15133129;15147912;15157669;15169870;15225553;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15542837;15579468;15601624;15611138;15728722;15814684;15850391;15858067;15866170;15897194;16002401;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16339170;16408927;16467373;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16916647;16943322;16968698;17027967;17028588;17060455;17064668;17077126;17145773;17158234;17196961;17214551;17244649;17269730;17562871;17583407;17599059;17698854;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18191593;18218625;18249095;18292551;18347018;18363964;18396277;18426980;18512783;18653540;18662984;18768928;18786931;18829452;18835169;18838382;18929667;18991276;19269969;19494238;19581409;19605563;19608861;19635168;19673492;19713215;19934221;20030946;20068231;20101212;20166139;20184954;20400958;20460433;20591975;20628200;20660154;20679435;20810653;20851766;21081667;21122136;21148482;21151158;21351730;21378159;21454492;21542010;21565175;21576392;21613211;21621533;21685891;21699497;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22790947;22911862;22918940;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23301498;23406282;23434736;23481700;23572525;23707487;23718289;23757206;23776598;23870057;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24623723;24659802;24859002;24933155;24960694;24996924;25024229;25114211;25211221;25425145;25428919;25502872;25576301;25704760;25721503;25795300;25862245;25961457;25963737;26016997;26129894;26299518;26371245;26375851;26529257;26598554;26646181;26768311;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27835684;27846572;27862975;27986909;28028151;28112683;28114311;28196833;28467828;28584191;28825699;28860633;28904123;29089502;29121646;29146911;29242379;29314611;29358323;29377108;29382922;29437277;29493099;29510700;29557506;29786170;29789417;30061681;30429286;30853411;31020640;31105010;31154438;31389670;31611695;31844290;31871319;32157095;32203420;32265295;32350084;32488085;32502341;32897882;32983136;33043033;33091337;33214551;33392160;33592498;33691108;33912179;33968037;33981976;34019948;34080651;34171305;34229054;34433824;34725712;35051231;35066091;35154160;35251023;35318648;35561310;35580925;35841528;36010968;36241641;36284347;37938771;38665916;40914422;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8262133;8504089;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9195882;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9705280;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Downregulation of miR4835p inhibits TGFbeta1induced EMT by targeting RhoGDI1 in pulmonary fibrosis., [RefSeq, PubMed]; MiR-497 promotes the migration and invasion of human medulloblast Daoy cell line through targeted regulation of ARHGDIA in vitro., [RefSeq, PubMed]; RhoGDI1 interacts with PHLDA2, suppresses the proliferation, migration, and invasion of trophoblast cells, and participates in the pathogenesis of preeclampsia., [RefSeq, PubMed]; This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MXW0;B2R5X1;B4DDD3;B4DUV9;Q6IBM5", "ec_number_list": [], "go_molecular_function": "GO:0005094 Rho GDP-dissociation inhibitor activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0071526 semaphorin-plexin signaling pathway;GO:0007266 Rho protein signal transduction;GO:0035023 regulation of Rho protein signal transduction;GO:0098693 regulation of synaptic vesicle cycle", "synthesized_glycan_count": 0, "hit_score": 44.0, "record_id": "P52565-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94808-1", "uniprot_id": [ { "id": "GFPT2_HUMAN", "url": "https://www.uniprot.org/uniprot/O94808", "type": "external" } ], "mass": 76931.0, "length": 682, "protein_name": "Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2", "gene_name": "GFPT2", "organism": "Human", "refseq_name": "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2", "refseq_ac": [ { "id": "NP_005101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005101", "type": "external" } ], "gene_names_uniprotkb": "GFPT2", "gene_names_refseq": "GFAT 2; GFAT2; GFAT; GFPT2", "protein_names_uniprotkb": "Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2; 2.6.1.16; D-fructose-6-phosphate amidotransferase 2; GFAT 2; GFAT2; Glutamine:fructose-6-phosphate amidotransferase 2; Hexosephosphate aminotransferase 2", "protein_names_refseq": "D-fructose-6-phosphate amidotransferase 2; glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2; glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2; glutamine: fructose-6-phosphate aminotransferase 2; glutamine:fructose-6-phosphate amidotransferase 2; hexosephosphate aminotransferase 2", "tax_id": 9606, "disease": "Machado-Joseph disease (Disease Ontology:DOID:1440); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:9945); (R-HSA-446210)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10198162;10824116;11237011;11707391;11726282;12174217;1460020;14764791;17010375;17574229;18669648;18675810;18767875;20353610;21073341;21310273;22692205;23186163;24715725;25576301;25645385;26154972;27846572;27920218;28514659;28832583;28855257;29242379;29393594;29557506;29786170;29789417;30315122;30429286;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32938616;33298915;33592498;33912179;33968037;33981976;34171305;34405274;34923141;35051231;35229715;35580925;36010968;36195245;36215666;36241641;36284347;37938771;39317702;9990133", "class_list": "glycogene", "function": "Association of nine single nucleotide polymorphisms in ADPRT1, AKR1B1), RAGE, GFPT2 and PAI-1 genes with chronic renal insufficiency among Asian Indians with type 2 diabetes GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; GFPT2 mRNA levels in transformed lymphocytes significantly increased among African-Americans. Associated allele of 3' UTR SNP approximately 2-fold overexpressed. 3' UTR variant results in increased GFPT2 mRNA with resultant increased hexosamine flux. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; GFPT2: A novel biomarker in mesothelioma for diagnosis and prognosis and its molecular mechanism in malignant progression., [RefSeq, PubMed]; Glutamine-Fructose-6-Phosphate Transaminase 2 (GFPT2) Is Upregulated in Breast Epithelial-Mesenchymal Transition and Responds to Oxidative Stress., [RefSeq, PubMed]; Increased GFAT activity appears to be associated with insulin resistance, postprandial hyperglycaemia and oxidative stress in T2DM and may point towards a potential pathway amenable for therapeutic intervention., [RefSeq, PubMed]; Rate-limiting enzyme of the hexosamine biosynthetic pathway (HBP) that catalyzes the formation of glucosamine-6-phosphate from fructose-6-phosphate and glutamine, thereby controlling the flux of glucose into this pathway (PubMed:35229715). Via control of the HPB, likely regulates the availability of precursors for N- and O-linked protein glycosylation (By similarity). Exhibits feedback inhibition by UDP-N-acetylglucosamine (UDP-GlcNAc), although to a lesser extent than GFPT1 (PubMed:35229715)., [UniProtKB, UniProtKB, PubMed]; VCAM-1 and GFPT-2: Predictive markers of osteoblast differentiation in human dental pulp stem cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 844, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53XM2;Q9BWS4", "ec_number_list": [ { "id": "2.6.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.16", "type": "external" } ], "go_molecular_function": "GO:0004360 glutamine-fructose-6-phosphate transaminase (isomerizing) activity;GO:0097367 carbohydrate derivative binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006112 energy reserve metabolic process;GO:0006487 protein N-linked glycosylation;GO:0006048 UDP-N-acetylglucosamine biosynthetic process;GO:0006047 UDP-N-acetylglucosamine metabolic process;GO:0006002 fructose 6-phosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O94808-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPR9-1", "uniprot_id": [ { "id": "GP108_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPR9", "type": "external" } ], "mass": 60633.0, "length": 543, "protein_name": "Protein GPR108", "gene_name": "GPR108", "organism": "Human", "refseq_name": "protein GPR108 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001073921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073921", "type": "external" } ], "gene_names_uniprotkb": "GPR108; LUSTR2", "gene_names_refseq": "GPR108; LUSTR2", "protein_names_uniprotkb": "Protein GPR108; Lung seven transmembrane receptor 2", "protein_names_refseq": "lung seven transmembrane receptor 2; protein GPR108 isoform 1 precursor; protein GPR108", "tax_id": 9606, "disease": "", "pathway": " (hsa:56927)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1038/emboj.2013.79;11237011;17454009;19423540;20406964;20438785;23584533;25502872;26154972;27397612;29557506;30315122;30332431;30410026;30429286;30459171;30620550;31154438;31530632;31784416;31844290;31848261;32157095;32280726;32350084;32357974;32387766;32502341;32938616;33123756;33298915;33592498;33717175;33968037;34171305;34185709;34211107;34357683;35051231;35154160;35251023;35580925;35659621;36010968;37074911;37217939;37330913;40307207", "class_list": "", "function": "(Microbial infection) Plays an essential function in adeno-associated virus (AAV) transduction across multiple serotypes except AAV5. May play a critical role in mediating the endosomal virus escape or in the AAV virions trafficking from endosomes to the nucleus., [UniProtKB, PubMed, PubMed]; A Golgi-resident GPR108 cooperates with E3 ubiquitin ligase Smurf1 to suppress antiviral innate immunity., [RefSeq, PubMed]; GPR108 is required for gambogic acid inhibiting NF-kappaB signaling in cancer., [RefSeq, PubMed]; GPR108, an NF-kappaB activator suppressed by TIRAP, negatively regulates TLR-triggered immune responses. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in intracellular immune modulation by activating NF-kappaB response and attenuating Toll-like-receptor response., [UniProtKB, UniProtKB]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The 18-exon human GPR107 gene is located at 9q34.2-3 and spans 86.4 kb and the cDNA encodes a 552 residue protein; murine Gpr108 cDNA encodes a 562 residue protein that has 49% identity to human GPR107., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B9EJD7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005802 trans-Golgi network;GO:0033106 cis-Golgi network membrane", "go_biological_process": "GO:0050776 regulation of immune response;GO:0034122 negative regulation of toll-like receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9NPR9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SXH7-5", "uniprot_id": [ { "id": "PKHS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SXH7", "type": "external" } ], "mass": 52535.0, "length": 465, "protein_name": "Pleckstrin homology domain-containing family S member 1", "gene_name": "PLEKHS1", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family S member 1 isoform 2", "refseq_ac": [ { "id": "NP_001180363", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180363", "type": "external" } ], "gene_names_uniprotkb": "PLEKHS1; C10orf81", "gene_names_refseq": "C10orf81; HEL185; PLEKHS1", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family S member 1; Epididymis luminal protein 185; PH domain-containing family S member 1; hEL185", "protein_names_refseq": "PH domain-containing family S member 1; PH domain-containing protein C10orf81; epididymis luminal protein 185; epididymis secretory sperm binding protein; pleckstrin homology domain-containing family S member 1 isoform 2; pleckstrin homology domain-containing family S member 1", "tax_id": 9606, "disease": "glucose intolerance (Disease Ontology:DOID:10603)", "pathway": " (hsa:79949)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "27523322;32326836;39894887", "class_list": "", "function": "Risk Stratification Using a Novel Genetic Classifier Including PLEKHS1 Promoter Mutations for Differentiated Thyroid Cancer with Distant Metastasis., [RefSeq, PubMed]; This gene is involved in the mild elevation of blood glucose levels and insulin resistance in obesity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A8Q3WKA6;A8KA02;B3KX00;B6EDE1;Q5SXH8;Q5SXI0;Q6ZQR5;Q8NE42;Q9H5D9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5SXH7-5", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWH2-1", "uniprot_id": [ { "id": "TM242_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWH2", "type": "external" } ], "mass": 14758.0, "length": 141, "protein_name": "Transmembrane protein 242", "gene_name": "TMEM242", "organism": "Human", "refseq_name": "transmembrane protein 242", "refseq_ac": [ { "id": "NP_060922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060922", "type": "external" } ], "gene_names_uniprotkb": "TMEM242; BM-033; C6orf35; HSPC287", "gene_names_refseq": "BM033; C6orf35; TMEM242", "protein_names_uniprotkb": "Transmembrane protein 242", "protein_names_refseq": "UPF0463 transmembrane protein C6orf35; transmembrane protein 242", "tax_id": 9606, "disease": "", "pathway": " (hsa:729515)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;24715725;25418920;26992070;28218747;28904123;29437277;29557506;30315122;30410026;30429286;30779550;31154438;31844290;31848261;32387766;32488085;32502341;32938616;33141586;33592498;33753518;33936100;33968037;34087483;34171305;34509645;35051231;35580925;36215666;36241641", "class_list": "", "function": "Scaffold protein that participates in the c-ring assembly of mitochondrial ATP synthase (F(1)F(0) ATP synthase or complex V) by facilitating the membrane insertion and oligomer formation of the subunit c/ATP5MC3 (PubMed:33753518). Participates in the incorporation of the c-ring into vestigial complexes (PubMed:33753518). Additionally influences the incorporation of subunits MT-ATP6, MT-ATP8, ATP5MJ, and ATP5MK in the ATP synthase (PubMed:33753518)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EJD0;Q9NZ88;Q9P094", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9NWH2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4G4-1", "uniprot_id": [ { "id": "GAPR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4G4", "type": "external" } ], "mass": 17218.0, "length": 154, "protein_name": "Golgi-associated plant pathogenesis-related protein 1", "gene_name": "GLIPR2", "organism": "Human", "refseq_name": "Golgi-associated plant pathogenesis-related protein 1 isoform a", "refseq_ac": [ { "id": "NP_071738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071738", "type": "external" } ], "gene_names_uniprotkb": "GLIPR2; C9orf19; GAPR1", "gene_names_refseq": "C9orf19; GAPR-1; GAPR1; GLIPR2; gliPR 2", "protein_names_uniprotkb": "Golgi-associated plant pathogenesis-related protein 1; GAPR-1; GliPR 2; Glioma pathogenesis-related protein 2; Golgi-associated PR-1 protein", "protein_names_refseq": "17kD fetal brain protein; Golgi-associated plant pathogenesis-related protein 1 isoform a; glioma pathogenesis-related protein 2; golgi-associated PR-1 protein; golgi-associated plant pathogenesis-related protein 1", "tax_id": 9606, "disease": "pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498)", "pathway": " (hsa:152007)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;11865038;12137952;15123429;25255805;25544559;25880248;26678074;28876241;29557506;29786170;31844290;32157095;32350084;32357974;32938616;32983136;33222586;33392160;33912179;34171305;34298062;35051231;35251023;36284347;36586462;37938771;38665916", "class_list": "", "function": "Dynamic and Reversible Aggregation of the Human CAP Superfamily Member GAPR-1 in Protein Inclusions in Saccharomyces cerevisiae., [RefSeq, PubMed]; GAPR-1 Interferes with Condensate Formation of Beclin 1 in Saccharomyces cerevisiae., [RefSeq, PubMed]; GLIPR2 is a negative regulator of autophagy and the BECN1-ATG14-containing phosphatidylinositol 3-kinase complex., [RefSeq, PubMed]; Here, sequence analyses, structural modeling, mutagenesis combined with pull-down assays, X-ray crystal structure determination and small-angle X-ray scattering were used to investigate the Beclin 1-GAPR-1 interaction. changes in the structure of the equatorial groove combined with the improved dimerization of pentad mutant GAPR-1 are likely to abrogate binding to Beclin 1., [RefSeq, PubMed]; This study identified a previously unrecognized role for GAPR-1 to control a unifying TLR4 signaling complex and to regulate type I Interferon signaling activation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VZR1;Q8N2S6;Q8WWC9;Q8WX36", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0005576 extracellular region", "go_biological_process": "GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0010718 positive regulation of epithelial to mesenchymal transition;GO:0010634 positive regulation of epithelial cell migration", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9H4G4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T7W7-1", "uniprot_id": [ { "id": "TSTD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T7W7", "type": "external" } ], "mass": 58263.0, "length": 516, "protein_name": "Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2", "gene_name": "TSTD2", "organism": "Human", "refseq_name": "thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2", "refseq_ac": [ { "id": "NP_640339", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_640339", "type": "external" } ], "gene_names_uniprotkb": "TSTD2; C9orf97; PP4189", "gene_names_refseq": "C9orf97; TSTD2", "protein_names_uniprotkb": "Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2; Rhodanese domain-containing protein 2", "protein_names_refseq": "PP4189; rhodanese domain-containing protein 2; rhodanese like domain containing 2; thiosulfate sulfurtransferase (rhodanese)-like domain containing 2; thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:158427)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;15498874;17924679;18669648;23186163;24714562;25576301;25645385;25880248;25892735;26728094;26992070;27846572;27862975;28832583;28904123;30315122;30379171;30429286;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;34509645;35051231;35561310;35580925;36010968;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NMJ4;A8K584;Q6ZQZ6;Q8IYM3;Q8WY73;Q96ML6;Q96MU1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q5T7W7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13021-1", "uniprot_id": [ { "id": "MALL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13021", "type": "external" } ], "mass": 17350.0, "length": 153, "protein_name": "MAL-like protein", "gene_name": "MALL", "organism": "Human", "refseq_name": "MAL-like protein isoform 1", "refseq_ac": [ { "id": "NP_005425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005425", "type": "external" } ], "gene_names_uniprotkb": "MALL; BENE", "gene_names_refseq": "BENE; MALL", "protein_names_uniprotkb": "MAL-like protein; Protein BENE", "protein_names_refseq": "MAL-like protein isoform 1; MAL-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7851)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10228016;11237011;18305945;25401970;25576301;28904123;29557506;30429286;30833945;31154438;31844290;31848261;33968037;34087483;34171305;34405274;35051231;35580925;36241641;7622049", "class_list": "", "function": "In colonic serrated adenomas three genes (TNFRSF10A, BENE, RARA) with strongly significant expression intensities in the oligonucleotide microarray, [RefSeq, PubMed]; This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008]., [RefSeq]; We report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KWR6;Q9BTU0", "ec_number_list": [], "go_molecular_function": "GO:0019911 structural constituent of myelin sheath", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045121 membrane raft;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0042552 myelination;GO:0042632 cholesterol homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q13021-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12765-1", "uniprot_id": [ { "id": "SCRN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12765", "type": "external" } ], "mass": 46382.0, "length": 414, "protein_name": "Secernin-1", "gene_name": "SCRN1", "organism": "Human", "refseq_name": "secernin-1 isoform a", "refseq_ac": [ { "id": "NP_001138985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138985", "type": "external" } ], "gene_names_uniprotkb": "SCRN1; KIAA0193", "gene_names_refseq": "SCRN1; SES1", "protein_names_uniprotkb": "Secernin-1", "protein_names_refseq": "secernin-1 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:9805)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;11921445;12221138;16630140;20039278;20381070;21385630;22223895;23301498;23481700;24714562;25576301;25645385;26375851;26728094;28218747;28228285;28467828;28832583;28834231;28855257;28904123;29242379;29508533;29632711;30315122;30379171;30429286;30573663;30833945;31154438;31217245;31222486;31844290;32157095;32488085;32502341;32983136;33141586;33298915;33592498;33691108;33912179;33981976;34171305;34725712;34932366;35051231;35154160;35251023;35580925;35874702;36010968;36946611;37691034;38665916", "class_list": "", "function": "In synovial sarcoma, metastasis-free survival was significantly higher in the group with high secernin-1 expression compared to low expression; results indicate secernin-1 may be used as a biomarker to predict overall and metastasis-free survival, [RefSeq, PubMed]; Knockdown of Secernin 1 inhibit cell invasion and migration by activating the TGF-beta/Smad3 pathway in oral squamous cell carcinomas. Publication Status: Online-Only, [RefSeq, PubMed]; Purified and identified bovine secernin, in addition to bioinformatics analysis of similar proteins in mouse, rat and human., [RefSeq, PubMed]; Regulates exocytosis in mast cells. Increases both the extent of secretion and the sensitivity of mast cells to stimulation with calcium (By similarity)., [UniProtKB]; SCRN1 expression is a prognostic factor in colorectal cancer patients, [RefSeq, PubMed]; SCRN1: A cerebrospinal fluid biomarker correlating with tau in Alzheimer's disease., [RefSeq, PubMed]; This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]., [RefSeq]; This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0E9;B4DHM0;B4DIP5;C9JPG0;Q25QX7;Q8IWD1", "ec_number_list": [], "go_molecular_function": "GO:0016805 dipeptidase activity;GO:0070004 cysteine-type exopeptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031965 nuclear membrane;GO:0098793 presynapse", "go_biological_process": "GO:0006508 proteolysis;GO:0006887 exocytosis;GO:0098693 regulation of synaptic vesicle cycle", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q12765-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07492-1", "uniprot_id": [ { "id": "GRP_HUMAN", "url": "https://www.uniprot.org/uniprot/P07492", "type": "external" } ], "mass": 16213.0, "length": 148, "protein_name": "Gastrin-releasing peptide", "gene_name": "GRP", "organism": "Human", "refseq_name": "gastrin-releasing peptide isoform 2 precursor", "refseq_ac": [ { "id": "NP_001012530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012530", "type": "external" } ], "gene_names_uniprotkb": "GRP", "gene_names_refseq": "BN; GRP-10; GRP; preproGRP; proGRP", "protein_names_uniprotkb": "Gastrin-releasing peptide; GRP-10; GRP18-27; GRP", "protein_names_refseq": "bombesin; gastrin-releasing peptide isoform 2 precursor; neuromedin C; pre-progastrin releasing peptide; prepro-GRP; testicular tissue protein Li 103", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); kidney failure (Disease Ontology:DOID:1074); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung small cell carcinoma (Disease Ontology:DOID:5409); pneumonia (Disease Ontology:DOID:552); congestive heart failure (Disease Ontology:DOID:6000); cerebrovascular disease (Disease Ontology:DOID:6713); chronic kidney disease (Disease Ontology:DOID:784); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:2922); (R-HSA-375276); (R-HSA-381771); (R-HSA-416476)", "pathway_count": 4, "publication_count": 157, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11237011;11322507;11385580;11457843;11562423;11564718;11683476;11742120;11753430;11773063;11978683;12120503;12427552;12540594;12540846;12651102;12719537;1280419;12810581;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;14719035;14719797;1499644;15126524;15139756;15539556;15584901;15619630;1567413;15947423;15951850;16182515;16219666;16268778;16339447;1655761;16728727;16754659;16923326;17065399;1710450;1710578;1719979;1722333;17681422;18127230;18434541;1847994;18515384;18519800;18577758;18936096;19001044;1905813;19616501;20130655;23446738;23690594;24714562;24715725;24906252;25374249;2649896;27496565;2841328;29557506;3001723;3003116;30828317;3086311;31637018;3202875;3211139;32552754;32791134;3366244;33860650;3525564;37088873;37409771;3841689;3856870;3900195;6274691;6281660;6373251;6589611;7057924;7524088;7530543;7590751;7592910;7592911;7624359;7797512;7883856;7905839;7937899;8035319;8062389;8063797;8100523;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8798518;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "Circulating pro-gastrin releasing peptide (ProGRP) in patients with medullary thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluating the diagnostic and prognostic value of serum TuM2-PK, NSE, and ProGRP in small cell lung cancer., [RefSeq, PubMed]; GRP/GRPR enhances alcohol-associated liver injury through the IRF1-mediated Caspase-1 inflammasome and NOX2-dependent ROS pathway., [RefSeq, PubMed]; Gastrin-releasing peptide induces fibrotic response in MRC5s and proliferation in A549s. Publication Status: Online-Only, [RefSeq, PubMed]; Induces an itch response through activation of receptors present on mast cells, triggering mast cell degranulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Serum ProGRP as a novel biomarker of bone metastasis in prostate cancer., [RefSeq, PubMed]; Stimulates the release of gastrin and other gastrointestinal hormones (By similarity). Contributes to the perception of prurient stimuli and to the transmission of itch signals in the spinal cord that promote scratching behavior (By similarity). Contributes primarily to nonhistaminergic itch sensation (By similarity). In one study, shown to act in the amygdala as part of an inhibitory network which inhibits memory specifically related to learned fear (By similarity). In another study, shown to act on vasoactive intestinal peptide (VIP)-expressing cells in the auditory cortex, most likely via extrasynaptic diffusion from local and long-range sources, to mediate disinhibition of glutamatergic cells via VIP cell-specific GRPR signaling which leads to enhanced auditory fear memories (By similarity). Contributes to the regulation of food intake (By similarity). Inhibits voltage-gated sodium channels but enhances voltage-gated potassium channels in hippocampal neurons (By similarity). Induces sighing by acting directly on the pre-Botzinger complex, a cluster of several thousand neurons in the ventrolateral medulla responsible for inspiration during respiratory activity (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. The encoded preproprotein is proteolytically processed to generate two peptides, gastrin-releasing peptide and neuromedin-C. These peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P07491;P81553;Q14454;Q53YA0;Q9BSY7", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005184 neuropeptide hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0034774 secretory granule lumen;GO:0043005 neuron projection;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0051970 negative regulation of transmission of nerve impulse;GO:0007165 signal transduction;GO:0007218 neuropeptide signaling pathway;GO:0035176 social behavior;GO:2000987 positive regulation of behavioral fear response", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "P07492-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4J2-1", "uniprot_id": [ { "id": "GL6D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4J2", "type": "external" } ], "mass": 32608.0, "length": 276, "protein_name": "Putative glycosyltransferase 6 domain-containing protein 1", "gene_name": "GLT6D1", "organism": "Human", "refseq_name": "putative glycosyltransferase 6 domain-containing protein 1", "refseq_ac": [ { "id": "NP_892019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_892019", "type": "external" } ], "gene_names_uniprotkb": "GLT6D1; GLTDC1; GT6M7", "gene_names_refseq": "GLT6D1; GLTDC1; GT6M7", "protein_names_uniprotkb": "Putative glycosyltransferase 6 domain-containing protein 1; 2.4.1.-; Galactosyltransferase family 6 domain-containing 1", "protein_names_refseq": "galactosyltransferase family 6 domain containing 1; glycosyltransferase 6 domain-containing protein 1; putative glycosyltransferase 6 domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:360203)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "19218399;19897590;20800603;25682733;35703703", "class_list": "glycogene;glycosyltransferase", "function": "Analysis of GLT6D1 and CDKN2BAS gene polymorphisms in Brazilian patients with advanced periodontitis. Publication Status: Online-Only, [RefSeq, PubMed]; GLT6D1 is a susceptibility locus for periodontitis. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study independently replicated finding that rs1537415, variant in glycosyl transferase gene GLT6D1, is associated with AgP and provided 1st report of genetic associations with AgP Sudanese population., [RefSeq, PubMed]; The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 415, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0016757 glycosyltransferase activity;GO:0016758 hexosyltransferase activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0031982 vesicle", "go_biological_process": "GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q7Z4J2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MX3-1", "uniprot_id": [ { "id": "ZNF48_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MX3", "type": "external" } ], "mass": 67820.0, "length": 618, "protein_name": "Zinc finger protein 48", "gene_name": "ZNF48", "organism": "Human", "refseq_name": "zinc finger protein 48 isoform 1", "refseq_ac": [ { "id": "NP_001201835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001201835", "type": "external" } ], "gene_names_uniprotkb": "ZNF48; ZNF553", "gene_names_refseq": "ZNF48; ZNF553", "protein_names_uniprotkb": "Zinc finger protein 48; Zinc finger protein 553", "protein_names_refseq": "zinc finger protein 48 isoform 1; zinc finger protein 553", "tax_id": 9606, "disease": "", "pathway": " (hsa:197407)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;1505991;23481700;25218447;25755297;25772364;26154972;26992070;27846572;28218747;28834231;28904123;29242379;29437277;30315122;30379171;31844290;32938616;33298915;33392160;33936100;34171305;35051231", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q15920;Q4G0R3;Q69YP3;Q96IL9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0000976 transcription cis-regulatory region binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q96MX3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVH8-1", "uniprot_id": [ { "id": "M4K3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVH8", "type": "external" } ], "mass": 101316.0, "length": 894, "protein_name": "Mitogen-activated protein kinase kinase kinase kinase 3", "gene_name": "MAP4K3", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase kinase 3 isoform 2", "refseq_ac": [ { "id": "NP_001257354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257354", "type": "external" } ], "gene_names_uniprotkb": "MAP4K3; RAB8IPL1", "gene_names_refseq": "GLK; MAP4K3; MAPKKKK3; MEKKK 3; MEKKK3; RAB8IPL1", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase kinase 3; 2.7.11.1; GLK; Germinal center kinase-related protein kinase; MAPK/ERK kinase kinase kinase 3; MEK kinase kinase 3; MEKKK 3", "protein_names_refseq": "MAPK/ERK kinase kinase kinase 3; MEK kinase kinase 3; germinal center kinase-like kinase; germinal center kinase-related protein kinase; mitogen-activated protein kinase kinase kinase kinase 3 isoform 2", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:8491)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;17344846;18691976;19369195;19587239;20227368;22223895;25576301;26437443;28832583;29393594;29557506;29786170;30429286;31578840;31844290;32157095;32938616;32983136;33592498;33968037;34171305;34185709;34610951;35051231;36010968;36284347;9275185", "class_list": "", "function": "Amino acid sufficiency phosphorylates MAP4K3/Ser170, activating mTORC1, but amino acid restriction causes MAP4K3 to interact with PP2A(T61 epsilon), promoting dephosphorylation of Ser170, MAP4K3 inhibition, and, inhibition of mTORC1 signaling., [RefSeq, PubMed]; Genomic sequencing and functional analyses identify MAP4K3/GLK germline and somatic variants associated with systemic lupus erythematosus., [RefSeq, PubMed]; MAP4K3 orchestrates activation of BAX via the concerted posttranscriptional modulation of PUMA, BAD, and BIM., [RefSeq, PubMed]; MiR-338-3p inhibits growth of glioblastoma through targeting MAP4K3., [RefSeq, PubMed]; Serine/threonine kinase that plays a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway (PubMed:9275185). Activator of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. MAP4Ks act in parallel to and are partially redundant with STK3/MST2 and STK4/MST2 in the phosphorylation and activation of LATS1/2, and establish MAP4Ks as components of the expanded Hippo pathway (PubMed:26437443)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IQ39;Q8IVH7;Q9UDM5;Q9Y6R5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008349 MAP kinase kinase kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0034612 response to tumor necrosis factor;GO:0035556 intracellular signal transduction;GO:0007254 JNK cascade;GO:0009411 response to UV", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8IVH8-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14C86-1", "uniprot_id": [ { "id": "GAPD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14C86", "type": "external" } ], "mass": 164980.0, "length": 1478, "protein_name": "GTPase-activating protein and VPS9 domain-containing protein 1", "gene_name": "GAPVD1", "organism": "Human", "refseq_name": "GTPase-activating protein and VPS9 domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001269608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269608", "type": "external" } ], "gene_names_uniprotkb": "GAPVD1; GAPEX5; KIAA1521; RAP6", "gene_names_refseq": "GAPEX5; GAPVD1; GAPex-5; RAP6", "protein_names_uniprotkb": "GTPase-activating protein and VPS9 domain-containing protein 1; GAPex-5; Rab5-activating protein 6", "protein_names_refseq": "GTPase-activating protein and VPS9 domain-containing protein 1 isoform 1; GTPase-activating protein and VPS9 domain-containing protein 1; Rab5 exchange factor; Rab5-activating protein 6", "tax_id": 9606, "disease": "nephrotic syndrome (Disease Ontology:DOID:1184)", "pathway": " (hsa:26130); (R-HSA-8856828); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 402, "publication_id_list": 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"class_list": "", "function": "Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras., [UniProtKB, PubMed]; An interdependence between GAPVD1 gene polymorphism, expression level and response to interferon beta in patients with multiple sclerosis., [RefSeq, PubMed]; EGF-stimulated receptor ubiquitination and trafficking are mediated via GAPex-5: GAPex-5-mediated EGFR ubiquitination is independent of Rab5 activation, [RefSeq, PubMed]; Phosphorylation of GAPVD1 Is Regulated by the PER Complex and Linked to GAPVD1 Degradation. Publication Status: Online-Only, [RefSeq, PubMed]; The findings suggest that SPIN90, as an adaptor protein, simultaneously binds inactive Rab5 and Gapex5, thereby altering their spatial proximity and facilitating Rab5 activation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8MYK3;B0QZ62;B0QZ63;B0QZ64;Q14C76;Q2Q1W1;Q8ND92;Q8WU86;Q96CZ4;Q9NXQ1;Q9P207;Q9Y4N0", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0045296 cadherin binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0032794 GTPase activating protein binding", "go_cellular_component": "GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030139 endocytic vesicle", "go_biological_process": "GO:0051223 regulation of protein transport;GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 40.7, "record_id": "Q14C86-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SF2-1", "uniprot_id": [ { "id": "GALT7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SF2", "type": "external" } ], "mass": 75389.0, "length": 657, "protein_name": "N-acetylgalactosaminyltransferase 7", "gene_name": "GALNT7", "organism": "Human", "refseq_name": "N-acetylgalactosaminyltransferase 7 isoform 1", "refseq_ac": [ { "id": "NP_059119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059119", "type": "external" } ], "gene_names_uniprotkb": "GALNT7", "gene_names_refseq": "GALNAC-T7; GALNT7; GalNAcT7", "protein_names_uniprotkb": "N-acetylgalactosaminyltransferase 7; 2.4.1.41; GalNAc-T7; Polypeptide GalNAc transferase 7; Protein-UDP acetylgalactosaminyltransferase 7; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7; pp-GaNTase 7", "protein_names_refseq": "N-acetylgalactosaminyltransferase 7 isoform 1; N-acetylgalactosaminyltransferase 7; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7); polypeptide GalNAc transferase 7; pp-GaNTase 7; protein-UDP acetylgalactosaminyltransferase 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:51809); (R-HSA-913709)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "40667337;10.1074/mcp.M114.046862;10330415;10430883;10544240;10753916;11042166;11237011;11283017;11304796;11821425;11925450;12855678;1329093;15486459;15489334;15560372;15620693;16303743;17113861;18537974;19844573;19946888;20068231;21269460;21741600;22183981;22399294;23481700;24643043;25418920;25502872;25576301;25813380;26154972;26503214;26992070;27619677;28218747;28228285;28467828;28832583;29242379;29314611;29970122;30315122;30685086;31020640;31217245;31611695;31844290;32157095;32265295;32350084;32357974;32387766;32416102;32938616;32983136;33298915;33537174;33592498;33912179;33936100;33968037;33981976;34357683;35051231;35132862;35154160;35251023;35513511;35580925;36010968;36040682;36215666;36725887;37633945;37947928;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Ectopic expression of miR-30b/30d promoted the metastatic behavior of melanoma cells by directly targeting the GalNAc transferase GALNT7., [RefSeq, PubMed]; Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer of an N-acetyl-D-galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate peptide substrate may remain unidentified., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Long non-coding RNA TP73-AS1 contributes to glioma tumorigenesis by sponging the miR-103a/GALNT7 pathway., [RefSeq, PubMed]; MiR-214 is a new regulator of GALNT7, and both miR-214 and GALNT7 play important roles in the pathogenesis of cervical cancer, [RefSeq, PubMed]; MiR-30c facilitates natural killer cell cytotoxicity to lung cancer through targeting GALNT7., [RefSeq, PubMed]; MicroRNA miR-378 regulates nephronectin expression modulating osteoblast differentiation by targeting GalNT-7 Publication Status: Online-Only, [RefSeq, PubMed]; SPDEF enhances cancer stem cell-like properties and tumorigenesis through directly promoting GALNT7 transcription in luminal breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The expression of O-linked glycosyltransferase GALNT7 in breast cancer is dependent on estrogen-, progesterone-, and HER2-receptor status, with prognostic implications., [RefSeq, PubMed]; This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of GALNT7 in prostate cancer modifies O-glycosylation and promotes tumour growth., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 723, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KQU3;Q7Z5W7;Q9UJ28", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity;GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 7434, "hit_score": 9.4, "record_id": "Q86SF2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15056-1", "uniprot_id": [ { "id": "SYNJ2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15056", "type": "external" } ], "mass": 165538.0, "length": 1496, "protein_name": "Polyphosphatidylinositol phosphatase SYNJ2", "gene_name": "SYNJ2", "organism": "Human", "refseq_name": "synaptojanin-2 isoform 2", "refseq_ac": [ { "id": "NP_001171559", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171559", "type": "external" } ], "gene_names_uniprotkb": "SYNJ2; KIAA0348", "gene_names_refseq": "INPP5H; SYNJ2", "protein_names_uniprotkb": "Polyphosphatidylinositol phosphatase SYNJ2; 3.1.3.-; 3.1.3.95; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase SYNJ2; Phosphatidylinositol-4-phosphatase SYNJ2; Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2; Synaptojanin-2", "protein_names_refseq": "inositol phosphate 5'-phosphatase 2; inositol polyphosphate-5-phosphatase H; phosphoinositide 5-phosphatase; synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2; synaptojanin-2 isoform 2", "tax_id": 9606, "disease": "early-onset Parkinson's disease (Disease Ontology:DOID:0060894); Down syndrome (Disease Ontology:DOID:14250); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:8871); (R-HSA-1660499); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 257, "publication_id_list": "10194451;10224048;10535736;10542231;10555148;10559856;10559861;10559924;10559940;10593988;10625686;10753883;10766823;10805725;10822173;11001876;11082044;11084340;11231140;11237011;11239472;11279162;11302699;11349134;11470803;11498538;11516654;11517213;11532990;11577110;11604140;11676921;11733541;11877430;11877457;11877461;11889126;11923287;12057195;12101241;12118066;12213833;12324459;12422219;12447393;12536145;12646134;12699622;12808147;12847086;12952949;14516276;14555962;14562116;14581451;14617351;14617813;14622578;14622579;14660569;15080793;15107860;15135396;15252009;15260957;15318165;15339664;15464023;15502812;15502813;15649145;15703209;15716355;15797027;15802264;15840652;15895077;15916959;16103228;16154996;16215232;16326391;16399794;16410077;16476736;16516836;16522682;16707488;16798879;16880396;16903783;16914545;16979564;17008356;17018281;17035995;17158794;17245604;17494869;17512409;17540576;17609109;17651088;17681954;17762867;17765681;17978091;18083107;18093523;18388313;1847920;18491316;18753295;18790740;18981233;19038970;19092055;19287005;19296720;19458185;19536138;19575674;19603039;19696796;19713939;19776351;19809571;19896968;20033059;20058876;20059951;20211604;20231386;20428113;20448150;20534812;20826345;20946875;2115402;21187331;21204784;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22037487;22099461;22233676;22484487;22505844;22647598;22815487;22863004;23076136;23186163;23297414;23481700;23519112;23536704;23758345;23823722;23861397;23891661;24130457;24186068;24275569;24366607;24581490;24715725;24789820;24966051;25107275;25303366;25341920;25495341;25576301;25880248;26042225;26154972;26375851;26403691;26768311;27846572;27862975;27920218;28904123;29242379;29393594;29557506;29786170;29789417;30315122;30379171;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32938616;32983136;33298915;33592498;33641617;33968037;34509645;35051231;35318648;35580925;35581615;36010968;36241641;38665916;39302247;40969890;6146630;7608176;7624799;7877694;8524399;8552632;8681945;8723348;8769125;9092476;9094719;9100026;9113989;9211928;9286278;9295334;9367159;9427626;9428629;9514948;9516481;9524259;9593664;9635431;9660759;9660833;9736607;9811831;9830063", "class_list": "", "function": "Identifying the Prognostic Risk Factors of Synaptojanin 2 and Its Underlying Perturbations Pathways in Hepatocellular Carcinoma., [RefSeq, PubMed]; Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction pathways. May mediate the inhibitory effect of Rac1 on endocytosis., [UniProtKB, UniProtKB]; Phosphatase that hydrolyzes phosphate groups from the inositol ring of phosphoinositides and inositol phosphates, in a domain-specific manner (PubMed:11084340, PubMed:12699622, PubMed:40969890). The 5-PPase domain catalyzes removal of the 5-phosphate from substrates such as phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), inositol-1,4,5-trisphosphate (Ins(1,4,5)P3) and inositol-1,3,4,5-tetrakisphosphate (Ins(1,3,4,5)P4) (PubMed:11084340, PubMed:12699622, PubMed:40969890). The SAC domain hydrolyzes phosphates at the 3- and 4-positions of the inositol ring, targeting phosphatidylinositol-3-phosphate (PI(3)P), phosphatidylinositol-4-phosphate (PI(4)P), and phosphatidylinositol-3,5-bisphosphate (PI(3,5)P2) (By similarity). Plays a role in the phosphatidylinositol metabolic process during the early stage of clathrin-coated-pit formation (PubMed:12699622). During EGF activation, plays a role in receptor-mediated endocytosis (RME) by converting PtdIns(4,5)P2 to PtdIns(4)P through the H2O2-dependent oxidation of the 4-phosphatase domain (By similarity). May play a role in tumor cell invadopodia formation (PubMed:23076136)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; SYNJ2 is a novel and potential biomarker for the prediction and treatment of cancers: from lung squamous cell carcinoma to pan-cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Since Syn 2 is a phosphatidylinositol 4,5-biphosphatase involved in cell growth and rearrangement of actin filaments, the increased Syn 2 expression may correlate with the hairy cell leukemia etiology or the characteristic morphologic alterations., [RefSeq, PubMed]; The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5TA13;Q5TA16;Q5TA19;Q86XK0;Q8IZA8;Q9H226", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" } ], "go_molecular_function": "GO:0034596 phosphatidylinositol phosphate 4-phosphatase activity;GO:0003723 RNA binding;GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity;GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity;GO:0043813 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0016020 membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0061024 membrane organization;GO:0006898 receptor-mediated endocytosis;GO:0048268 clathrin coat assembly;GO:0006661 phosphatidylinositol biosynthetic process;GO:0046856 phosphatidylinositol dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 26.0, "record_id": "O15056-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14849-1", "uniprot_id": [ { "id": "STAR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14849", "type": "external" } ], "mass": 50502.0, "length": 445, "protein_name": "StAR-related lipid transfer protein 3", "gene_name": "STARD3", "organism": "Human", "refseq_name": "stAR-related lipid transfer protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001159409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159409", "type": "external" } ], "gene_names_uniprotkb": "STARD3; CAB1; MLN64", "gene_names_refseq": "CAB1; MLN64; STARD3; es64", "protein_names_uniprotkb": "StAR-related lipid transfer protein 3; MLN 64; Metastatic lymph node gene 64 protein; Protein CAB1; START domain-containing protein 3; StARD3", "protein_names_refseq": "MLN 64; START domain-containing protein 3; StAR-related lipid transfer (START) domain containing 3; metastatic lymph node gene 64 protein; metastatic lymph node protein 64; stAR-related lipid transfer protein 3 isoform 2; stAR-related lipid transfer protein 3; steroidogenic acute regulatory protein related", "tax_id": 9606, "disease": "", "pathway": " (hsa:10948); (R-HSA-196108)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10802740;11053434;11237011;12070139;15718238;15930133;16709157;16990645;18452278;19965586;21322544;22514632;23481700;24105263;25418920;25502872;25542846;25818881;25892735;26929215;27487925;27679500;28218747;28228285;28377464;28467828;28832583;29242379;29314611;29393594;29508533;29632046;2981667;29858488;3001071;3024157;30524438;30573663;31092671;31154438;31217245;31530632;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33124732;33298915;33717175;33912179;33968037;34211107;34357683;35051231;35154160;35251023;35561310;35580925;37245582;37507014;38151289;7490069;8307574;8645003;9270027;9578606;9915832", "class_list": "", "function": "Metastatic Lymph Node 64 (MLN64) Expression in Gastric Cancer: The Clinical and Molecular Implications in Drug Resistance., [RefSeq, PubMed]; Methionine sulfoxide reductases and cholesterol transporter STARD3 constitute an efficient system for detoxification of cholesterol hydroperoxides., [RefSeq, PubMed]; Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:11053434, PubMed:15930133, PubMed:22514632, PubMed:28377464, PubMed:33124732). The sterol transport mechanism is triggered by phosphorylation of FFAT motif that leads to membrane tethering between the endoplasmic reticulum and late endosomes via interaction with VAPA and VAPB (PubMed:24105263, PubMed:28377464, PubMed:33124732). Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes (PubMed:28377464). May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membrane (PubMed:12070139, PubMed:19965586). However, such results need additional experimental evidences; probably mainly mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:28377464). Does not activate transcriptional cholesterol sensing (PubMed:28377464). Able to bind other lipids, such as lutein, a xanthophyll carotenoids that form the macular pigment of the retina (PubMed:21322544)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The ultrastructural function of MLN64 in the late endosome-mitochondria membrane contact sites in placental cells., [RefSeq, PubMed]; This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MXA4;B4DUY1;F5H0G2;Q53Y53;Q96HM9", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0015485 cholesterol binding;GO:0120020 cholesterol transfer activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0044232 organelle membrane contact site;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005768 endosome;GO:0005829 cytosol", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006839 mitochondrial transport;GO:0008203 cholesterol metabolic process;GO:0030301 cholesterol transport;GO:0008202 steroid metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q14849-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14353-1", "uniprot_id": [ { "id": "GAMT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14353", "type": "external" } ], "mass": 26318.0, "length": 236, "protein_name": "Guanidinoacetate N-methyltransferase", "gene_name": "GAMT", "organism": "Human", "refseq_name": "guanidinoacetate N-methyltransferase isoform a", "refseq_ac": [ { "id": "NP_000147", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000147", "type": "external" } ], "gene_names_uniprotkb": "GAMT", "gene_names_refseq": "CCDS2; GAMT; HEL-S-20; PIG2; TP53I2", "protein_names_uniprotkb": "Guanidinoacetate N-methyltransferase; 2.1.1.2", "protein_names_refseq": "epididymis secretory protein Li 20; guanidinoacetate N-methyltransferase isoform a", "tax_id": 9606, "disease": "guanidinoacetate methyltransferase deficiency (Disease Ontology:DOID:0050799); pre-eclampsia (Disease Ontology:DOID:10591); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:2593); (R-HSA-71288); (R-HSA-8986944)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "11237011;11555793;12468279;12889669;15044463;15108290;15651030;16293431;16855203;16981706;17101918;17466557;19388150;22223895;2324105;23660394;24415674;24715725;25576301;26003046;26154972;26319512;26843422;26992070;27846572;28228285;28683304;28832583;28834231;2914937;29242379;29508533;29557506;30315122;30779550;31092671;31154438;31844290;32157095;32161166;32350084;32502341;32938616;33537174;33592498;34019948;34990904;35251023;35580925;35588794;36010968;36241641;37938771;38452609;7945388;8547310;8651275;9148748;9218780;9325156;9722522", "class_list": "", "function": "As early diagnosis results in normal neurodevelopmental outcome, GAMT deficiency should be included in newborn screening programs to diagnose individuals at the asymptomatic stage of the disease, [RefSeq, PubMed]; ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes., [RefSeq, PubMed]; Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:24415674, PubMed:26003046, PubMed:26319512). Important in nervous system development (PubMed:24415674)., [UniProtKB, PubMed, PubMed, PubMed]; Elastic net-based identification of GAMT as potential diagnostic marker for early-stage gastric cancer., [RefSeq, PubMed]; Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome., [RefSeq, PubMed]; The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0A0;Q53Y34;Q8WVJ1", "ec_number_list": [ { "id": "2.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.2", "type": "external" } ], "go_molecular_function": "GO:0030731 guanidinoacetate N-methyltransferase activity;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006936 muscle contraction;GO:0032259 methylation;GO:0006600 creatine metabolic process;GO:0006601 creatine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q14353-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TB36-1", "uniprot_id": [ { "id": "GDAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TB36", "type": "external" } ], "mass": 41346.0, "length": 358, "protein_name": "Ganglioside-induced differentiation-associated protein 1", "gene_name": "GDAP1", "organism": "Human", "refseq_name": "ganglioside-induced differentiation-associated protein 1 isoform b", "refseq_ac": [ { "id": "NP_001035808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035808", "type": "external" } ], "gene_names_uniprotkb": "GDAP1", "gene_names_refseq": "CMT4A; CMT4; CMTRIA; GDAP1", "protein_names_uniprotkb": "Ganglioside-induced differentiation-associated protein 1; GDAP1", "protein_names_refseq": "Charcot-Marie-Tooth neuropathy 4A; ganglioside-induced differentiation-associated protein 1 isoform b", "tax_id": 9606, "disease": "autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis (Disease Ontology:DOID:0051028); Charcot-Marie-Tooth disease axonal type 2K (Disease Ontology:DOID:0110167); Charcot-Marie-Tooth disease axonal type 2C (Disease Ontology:DOID:0110182); Charcot-Marie-Tooth disease type 4A (Disease Ontology:DOID:0110185); Charcot-Marie-Tooth disease recessive intermediate A (Disease Ontology:DOID:0110201); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595)", "pathway": " (hsa:54332); (R-HSA-9603798)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10217254;10430017;10704444;11237011;11390669;11402059;11453642;11590176;11743579;11743580;11883941;12499475;12566285;12601710;12751901;12868504;12924628;14709540;15007061;15713480;15772096;15781447;16172208;16280322;16791427;16857173;16895967;16980692;17069900;18174172;18782765;19608861;20531392;20554521;20685671;21102411;22206013;22624858;23460677;23481700;23628762;24627108;24714562;24715725;25062251;25517356;25576301;25621951;25880248;26154972;26525999;26728094;26777132;26992070;27846572;28244113;28281558;28325759;28832583;28834231;29242379;29508533;29557506;29786170;29789417;30315122;30429286;30779550;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32938616;33141586;33298915;33717175;33968037;33981976;34171305;34211107;34357683;34405274;34509645;35051231;35561310;36912213;37797217;37938771;38705839;9418908", "class_list": "", "function": "Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites., [RefSeq, PubMed]; Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation., [RefSeq, PubMed]; Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families., [RefSeq, PubMed]; Regulates the mitochondrial network by promoting mitochondrial fission., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K957;E7FJF3;E7FJF4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "GO:0006626 protein targeting to mitochondrion;GO:0008053 mitochondrial fusion;GO:0000266 mitochondrial fission;GO:0071305 cellular response to vitamin D", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q8TB36-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNW8-1", "uniprot_id": [ { "id": "GP132_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNW8", "type": "external" } ], "mass": 42499.0, "length": 380, "protein_name": "Probable G protein-coupled receptor 132", "gene_name": "GPR132", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 132 isoform 1", "refseq_ac": [ { "id": "NP_001265623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265623", "type": "external" } ], "gene_names_uniprotkb": "GPR132; G2A", "gene_names_refseq": "G2A; GPR132", "protein_names_uniprotkb": "Probable G protein-coupled receptor 132; G2 accumulation protein", "protein_names_refseq": "G2 accumulation protein; probable G-protein coupled receptor 132 isoform 1; probable G-protein coupled receptor 132", "tax_id": 9606, "disease": "autoimmune disease (Disease Ontology:DOID:417)", "pathway": " (hsa:29933); (R-HSA-373076); (R-HSA-416476)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;10191087;10567430;10727532;10861009;11015615;11237011;11474113;11742120;11753430;12086852;12120503;12482833;12522134;12524422;12586833;12955148;14617636;15141213;15280385;15326175;15929991;15951850;16182515;16236715;16268778;16339447;16540462;1656963;16754659;16754668;16844083;16923326;17139494;17339491;17462861;17876302;18434541;18515384;18577758;18588883;18936096;1905813;19855098;21796212;22299025;2263478;25418920;25880248;26375851;26992070;2841328;28467828;28904123;29242379;29493099;29632711;3086311;31844290;32350084;32357974;32387766;32897882;32948783;32983136;33043033;33298915;33392160;33912179;33936100;33941654;34357683;34509645;34932366;35051231;35154160;35580925;36437247;7498464;7568007;7689702;7775459;7937899;7946354;8664309;9305846;9770463;9770487", "class_list": "", "function": "Activation of orphan receptor GPR132 induces cell differentiation in acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Expression profiles of proton-sensing G-protein coupled receptors in common skin tumors. Publication Status: Online-Only, [RefSeq, PubMed]; G2A is a negative modifier of lymphoid leukemogenesis initiated by the BCR-ABL oncogene, [RefSeq, PubMed]; G2A is a proton-sensing G-protein-coupled receptor antagonized by lysophosphatidylcholine, [RefSeq, PubMed]; In atherosclerotic plaques of human coronary arterial specimens, G2A is expressed by macrophages within the lipid-rich plaques, whereas no immunoreactivity of G2A is observed in fibrous plaques where macrophages do not exist., [RefSeq, PubMed]; Lipid Receptor G2A-Mediated Signal Pathway Plays a Critical Role in Inflammatory Response by Promoting Classical Macrophage Activation., [RefSeq, PubMed]; May be a receptor for oxidized free fatty acids derived from linoleic and arachidonic acids such as 9-hydroxyoctadecadienoic acid (9-HODE). Activates a G alpha protein, most likely G alpha(q). May be involved in apoptosis. Functions at the G2/M checkpoint to delay mitosis. May function as a sensor that monitors the oxidative states and mediates appropriate cellular responses such as secretion of paracrine signals and attenuation of proliferation. May mediate ths accumulation of intracellular inositol phosphates at acidic pH through proton-sensing activity., [UniProtKB, PubMed, PubMed, PubMed]; Results indicate that G protein-coupled receptor G2A is a receptor for 9-hydroxyoctadecadienoic acid (9-HODE) and other oxidized free fatty acids and is activated by oxidized free fatty acids, [RefSeq, PubMed]; This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein was reported to be a receptor for lysophosphatidylcholine action, but PubMedID: 15653487 retracts this finding and instead suggests this protein to be an effector of lysophosphatidylcholine action. This protein may have proton-sensing activity and may be a receptor for oxidized free fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]; We found an additional novel G2A variant (G2A-b) that is the major transcript with functional response to ligand stimulation as well as G2A-a, and succeeded in discriminating proton-sensing and oxidized fatty acid-sensing activities of G2A., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7X7;B4E144;Q9BSU2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0000082 G1/S transition of mitotic cell cycle;GO:0010972 negative regulation of G2/M transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9UNW8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14847-1", "uniprot_id": [ { "id": "LASP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14847", "type": "external" } ], "mass": 29717.0, "length": 261, "protein_name": "LIM and SH3 domain protein 1", "gene_name": "LASP1", "organism": "Human", "refseq_name": "LIM and SH3 domain protein 1 isoform b", "refseq_ac": [ { "id": "NP_001258537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258537", "type": "external" } ], "gene_names_uniprotkb": "LASP1; MLN50", "gene_names_refseq": "LASP1; Lasp-1; MLN50", "protein_names_uniprotkb": "LIM and SH3 domain protein 1; LASP-1; MLN 50; Metastatic lymph node gene 50 protein", "protein_names_refseq": "LIM and SH3 domain protein 1 isoform b; LIM and SH3 domain protein 1; metastatic lymph node gene 50 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:3927)", "pathway_count": 1, "publication_count": 104, "publication_id_list": "11237011;12432067;12571245;12665801;15138294;16094384;17016520;17287340;17322306;17924679;18077418;18088087;18212344;18452278;18669648;19415658;19608861;19651622;19664994;19664995;19690332;19718473;19726686;20068231;20166139;22665060;23186163;24129315;24275569;24714562;24715725;25502872;25576301;25645385;25880248;26154972;26728094;26992070;27600516;27846572;27862975;28228285;28446606;28657654;28832583;28904123;29242379;29331515;29351928;29393594;29485866;29557506;29786170;29789417;30315122;30429286;31092671;31217245;31373491;31611695;31844290;32075106;32157095;32350084;32357974;32502341;32897882;32938616;32983136;33043033;33214551;33392160;33592498;33717175;33968037;34019948;34087483;34171305;34185709;34357683;34725712;34932366;35051231;35132862;35251023;35254053;35580925;36010968;36241641;36284347;36670097;37217939;37303940;37938771;38665916;38713618;38789663;39302247;39531497;39534244;40596516;7490069;7589475;9688835", "class_list": "", "function": "Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway., [RefSeq, PubMed]; E7-mediated repression of miR-203 promotes LASP1-dependent proliferation in HPV-positive cervical cancer., [RefSeq, PubMed]; In rabbits, lasp-1 localizes to sites of dynamic actin assembly, identifies sites that are phosphorylated by protein kinase A in vivo, and shows that the phosphorylation of these sites decreases F-actin-binding to lasp-1., [RefSeq, PubMed]; In rabbits, lasp-1 phosphorylation is increased by histamine H2 receptor activation and elevation of intracellular cAMP, [RefSeq, PubMed]; Long noncoding RNA PPP1R14B-AS1 imitates microRNA-134-3p to facilitate breast cancer progression by upregulating LIM and SH3 protein 1. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an important role in the regulation of dynamic actin-based, cytoskeletal activities. Agonist-dependent changes in LASP1 phosphorylation may also serve to regulate actin-associated ion transport activities, not only in the parietal cell but also in certain other F-actin-rich secretory epithelial cell types (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TRIM15 forms a regulatory loop with the AKT/FOXO1 axis and LASP1 to modulate the sensitivity of HCC cells to TKIs. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DGQ0;Q96ED2;Q96IG0", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051015 actin filament binding;GO:0045296 cadherin binding;GO:0015075 monoatomic ion transmembrane transporter activity;GO:0003779 actin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005925 focal adhesion;GO:0098794 postsynapse;GO:0030864 cortical actin cytoskeleton;GO:0005856 cytoskeleton", "go_biological_process": "GO:0006811 monoatomic ion transport", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q14847-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13646-1", "uniprot_id": [ { "id": "K1C13_HUMAN", "url": "https://www.uniprot.org/uniprot/P13646", "type": "external" } ], "mass": 49588.0, "length": 458, "protein_name": "Keratin, type I cytoskeletal 13", "gene_name": "KRT13", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 13 isoform b", "refseq_ac": [ { "id": "NP_002265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002265", "type": "external" } ], "gene_names_uniprotkb": "KRT13", "gene_names_refseq": "CK13; K13; KRT13; WSN2", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 13; CK-13; Cytokeratin-13; K13; Keratin-13", "protein_names_refseq": "CK-13; cytokeratin 13; keratin 13, type I; keratin, type I cytoskeletal 13 isoform b; keratin, type I cytoskeletal 13", "tax_id": 9606, "disease": "white sponge nevus (Disease Ontology:DOID:0050448); white sponge nevus 2 (Disease Ontology:DOID:0081288)", "pathway": " (hsa:3860); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 87, "publication_id_list": "10066784;10196183;10231017;10411887;10561721;10588656;10771479;11237011;11350120;11379896;11380615;11590230;12902340;14600690;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;17081983;1714783;17287340;17515931;17521629;17562024;17596512;18616775;18843291;19190773;19194479;19664995;20068231;20179351;20657595;20667819;20940292;21406692;21439340;21654840;21997417;23186163;23481192;23629652;24029068;24129315;2414304;2474541;2475110;2477803;2483837;25208914;25606422;25926655;26390218;26758079;27452731;29393594;29476668;29557506;29786170;29789417;30524438;30779550;31611695;31844290;32574038;33981976;34087483;34171305;35051231;35078507;36269681;36610719;38114532;7493031;7543090;8824274;8999895;9395522;9468612;9565599;9714826", "class_list": "", "function": "Cytokeratin 13 (CK13) expression in cancer: a tissue microarray study on 10,439 tumors., [RefSeq, PubMed]; KRT13 and UPK1B for differential diagnosis between metastatic lung carcinoma from oral squamous cell carcinoma and lung squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; KRT13 is upregulated in pancreatic cancer stem-like cells and associated with radioresistance., [RefSeq, PubMed]; KRT13 promotes stemness and drives metastasis in breast cancer through a plakoglobin/c-Myc signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of intermediate filaments in mucosal stratified squamous epithelia. Forms heteropolymers with the type II keratin KRT4, assembling into keratin intermediate filament networks that provides structural integrity and mechanical stability of the mucosal epithelium (PubMed:7493031). Contributes to postnatal tongue mucosal cell homeostasis and tissue organization in response to mechanical stress, potentially through regulation of the G1/S phase cyclins CCNE1 and CCNE2 (By similarity)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53G54;Q6AZK5;Q8N240", "ec_number_list": [], "go_molecular_function": "GO:0030280 structural constituent of skin epidermis;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045111 intermediate filament cytoskeleton", "go_biological_process": "GO:0043555 regulation of translation in response to stress;GO:0030855 epithelial cell differentiation;GO:0007010 cytoskeleton organization;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "P13646-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17947-1", "uniprot_id": [ { "id": "SPI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P17947", "type": "external" } ], "mass": 31083.0, "length": 270, "protein_name": "Transcription factor PU.1", "gene_name": "SPI1", "organism": "Human", "refseq_name": "transcription factor PU.1 isoform 1", "refseq_ac": [ { "id": "NP_001074016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074016", "type": "external" } ], "gene_names_uniprotkb": "SPI1", "gene_names_refseq": "AGM10; OF; PU.1; SFPI1; SPI-1; SPI-A; SPI1", "protein_names_uniprotkb": "Transcription factor PU.1; 31 kDa-transforming protein", "protein_names_refseq": "31 kDa transforming protein; hematopoietic transcription factor PU.1; spleen focus forming virus (SFFV) proviral integration oncogene spi1; transcription factor PU.1 isoform 1", "tax_id": 9606, "disease": "agammaglobulinemia 10 (Disease Ontology:DOID:0081142); alcohol use disorder (Disease Ontology:DOID:1574); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:6688); (R-HSA-8939236); (R-HSA-9616222)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10196196;10207087;10233885;10330422;11237011;11242107;11340171;11369759;11564866;11684017;11847229;11867521;12242300;12702500;12869508;14517214;15678106;16751774;1693183;17063141;17197705;17562868;18280240;18701449;18776924;20661648;20887958;21471526;21571218;21993314;22012064;22371011;22474248;22897851;23001182;23166356;23481700;23658224;23783831;24275569;24379003;24584857;25043025;2524830;25394790;25784653;26019275;26992070;27137657;2721961;27397612;28832583;28834231;28904123;29242379;29393594;29431622;29557506;29786170;30429286;31154438;31844290;31848261;32157095;32350084;32387766;32897882;32983136;33188146;33298915;33392160;33912179;33936100;33951726;34561969;34932366;35051231;35561310;35580925;36284347;37277671;37966708;38078733;38951492;39197215;7862113;8695841;8846917;9177240", "class_list": "", "function": "HIV-1 Vpr combats the PU.1-driven antiviral response in primary human macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites. Once in open chromatin, can directly control gene expression by binding genetic regulatory elements and can also more broadly influence transcription by recruiting transcription factors, such as interferon regulatory factors (IRFs), to otherwise inaccessible genomic regions (PubMed:23658224, PubMed:33951726). Transcriptionally activates genes important for myeloid and lymphoid lineages, such as CSF1R (By similarity). Transcriptional activation from certain promoters, possibly containing low affinity binding sites, is achieved cooperatively with other transcription factors. FCER1A transactivation is achieved in cooperation with GATA1 (By similarity). May be particularly important for the pro- to pre-B cell transition (PubMed:33951726). Binds (via the ETS domain) onto the purine-rich DNA core sequence 5'-GAGGAA-3', also known as the PU-box (PubMed:33951726). In vitro can bind RNA and interfere with pre-mRNA splicing (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; Role of LINC00240 on T-helper 9 differentiation in allergic rhinitis through influencing DNMT1-dependent methylation of PU.1., [RefSeq, PubMed]; SPI1 Regulates the Progression of Ankylosing Spondylitis by Modulating TLR5 via NF-kappaB Signaling., [RefSeq, PubMed]; SPI1-mediated transcriptional activation of CEP55 promotes the malignant growth of triple-negative breast cancer and M2 macrophage polarization., [RefSeq, PubMed]; This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulation of the HIV-1 inhibitory factor human mannose receptor 1 by the myeloid-specific transcription factor PU.1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0097677 STAT family protein binding;GO:0051525 NFAT protein binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0002573 myeloid leukocyte differentiation;GO:1904238 pericyte cell differentiation;GO:0002327 immature B cell differentiation;GO:1904151 positive regulation of microglial cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P17947-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99795-1", "uniprot_id": [ { "id": "GPA33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99795", "type": "external" } ], "mass": 35632.0, "length": 319, "protein_name": "Cell surface A33 antigen", "gene_name": "GPA33", "organism": "Human", "refseq_name": "cell surface A33 antigen precursor", "refseq_ac": [ { "id": "NP_005805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005805", "type": "external" } ], "gene_names_uniprotkb": "GPA33", "gene_names_refseq": "A33; GPA33", "protein_names_uniprotkb": "Cell surface A33 antigen; Glycoprotein A33", "protein_names_refseq": "cell surface A33 antigen precursor; cell surface A33 antigen; glycoprotein A33 (transmembrane); transmembrane glycoprotein A33", "tax_id": 9606, "disease": "", "pathway": " (hsa:10223)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1038/emboj.2013.79;11237011;12114523;23584533;27272411;28226180;29557506;31844290;32215766;32350084;35051231;35580925;9012807;9245713", "class_list": "", "function": "A panel of intestinal differentiation markers (CDX2, GPA33, and LI-cadherin) identifies gastric cancer patients with favourable prognosis., [RefSeq, PubMed]; A33 expression is directly correlated to colorectal tumor differentiation., [RefSeq, PubMed]; A33 shows similar sensitivity to but is more specific than CDX2 as an immunomarker of colorectal carcinoma, [RefSeq, PubMed]; Cloning, chromosomal localizations, exon-intron structures and transcription start sites - target gene for the intestine-specific homeobox transcription factor, CDX1., [RefSeq, PubMed]; May play a role in cell-cell recognition and signaling., [UniProtKB]; The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5VZP6", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q99795-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L622-1", "uniprot_id": [ { "id": "G2E3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L622", "type": "external" } ], "mass": 80504.0, "length": 706, "protein_name": "G2/M phase-specific E3 ubiquitin-protein ligase", "gene_name": "G2E3", "organism": "Human", "refseq_name": "G2/M phase-specific E3 ubiquitin-protein ligase isoform 2", "refseq_ac": [ { "id": "NP_001295026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295026", "type": "external" } ], "gene_names_uniprotkb": "G2E3; KIAA1333", "gene_names_refseq": "G2E3; KIAA1333; PHF7B", "protein_names_uniprotkb": "G2/M phase-specific E3 ubiquitin-protein ligase; 2.3.2.26; G2/M phase-specific HECT-type E3 ubiquitin transferase", "protein_names_refseq": "G2/M phase-specific E3 ubiquitin-protein ligase isoform 2; G2/M phase-specific HECT-type E3 ubiquitin transferase; G2/M-phase specific E3 ubiquitin ligase; PHD finger protein 7B", "tax_id": 9606, "disease": "", "pathway": " (hsa:55632)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11483598;17239372;18511420;24714562;24715725;25576301;25593194;25645385;25892735;26154972;26992070;27846572;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29437277;29557506;29632046;29769354;30315122;30410026;30429286;30484775;30779550;31154438;31217245;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36517818;37938771;41094145", "class_list": "", "function": "Cell cycle phase-specific expression and highly regulated subcellular localization of G2E3 suggest a possible role in cell cycle regulation and the cellular response to DNA damage., [RefSeq, PubMed]; Comprehensive analysis of the expression, prognostic significance, and regulation pathway of G2E3 in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase involved in the establishment of constitutive heterochromatin at pericentric regions by catalyzing histone H3 'Lys-14' monoubiquitination (H3K14ub) (PubMed:41094145). H3K14ub represents a specific tag for heterochromatin formation by facilitating the deposition of histone H3 trimethylated at 'Lys-9' (H3K9me3) (PubMed:41094145). Highly expressed in G2/M phase and associates with mitotic chromosomes in an RNA-dependent manner to catalyze H3K14ub, thereby promoting recruitment of SUV39H (SUV39H1 and/or SUV39H2) and subsequent recruitment of HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones (PubMed:41094145)., [UniProtKB, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death., [UniProtKB, UniProtKB]; Results suggest that G2E3 is a molecular determinant of the DDR and cell survival., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9BVR2;Q9H9E9;Q9NXC0;Q9P2L3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0140851 histone H3K14 ubiquitin ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0061630 ubiquitin protein ligase activity;GO:0016740 transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005721 pericentric heterochromatin", "go_biological_process": "GO:0031508 pericentric heterochromatin formation;GO:0006915 apoptotic process;GO:0016567 protein ubiquitination;GO:0034502 protein localization to chromosome;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q7L622-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTN9-1", "uniprot_id": [ { "id": "SEM4G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTN9", "type": "external" } ], "mass": 91497.0, "length": 838, "protein_name": "Semaphorin-4G", "gene_name": "SEMA4G", "organism": "Human", "refseq_name": "semaphorin-4G isoform 2 precursor", "refseq_ac": [ { "id": "NP_001190173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190173", "type": "external" } ], "gene_names_uniprotkb": "SEMA4G; KIAA1619", "gene_names_refseq": "SEMA4G", "protein_names_uniprotkb": "Semaphorin-4G", "protein_names_refseq": "sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G; semaphorin-4G isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:57715)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16385451;19047128;23186163;24190977;28653886;29242379;29557506;29741879;31787984;32502341;32938616;33968037;34171305;35051231;36010968;36737753;37074911;39894887", "class_list": "", "function": "Cell surface receptor for PLXNB2. May play a role in axon guidance (By similarity)., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; These findings provide evidence that the miR-608 rs4919510 polymorphism may modify cancer susceptibility in a type-specific manner. Furthermore, SEMA4G may function as an oncogene or tumour suppressor to regulate tumour development in a type-specific manner. Further studies with experimental evaluations are warranted., [RefSeq, PubMed]; Variants in TPO rs2048722, PTCSC2 rs925489 and SEMA4G rs4919510 affect thyroid carcinoma susceptibility risk. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 2, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A1A5C6;A6NJY8;Q58EY1;Q9HCF3", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0038191 neuropilin binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway;GO:0001755 neural crest cell migration;GO:0050919 negative chemotaxis;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9NTN9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWV1-1", "uniprot_id": [ { "id": "LAX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWV1", "type": "external" } ], "mass": 44085.0, "length": 398, "protein_name": "Lymphocyte transmembrane adapter 1", "gene_name": "LAX1", "organism": "Human", "refseq_name": "lymphocyte transmembrane adapter 1 isoform b", "refseq_ac": [ { "id": "NP_001129662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129662", "type": "external" } ], "gene_names_uniprotkb": "LAX1; LAX", "gene_names_refseq": "LAX1; LAX", "protein_names_uniprotkb": "Lymphocyte transmembrane adapter 1; Linker for activation of X cells; Membrane-associated adapter protein LAX", "protein_names_refseq": "LAT-like membrane associated protein; linker for activation of x cells; lymphocyte transmembrane adapter 1 isoform b; lymphocyte transmembrane adapter 1; membrane-associated adapter protein LAX", "tax_id": 9606, "disease": "", "pathway": " (hsa:54900)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "12359715;15843560;18981125;19536175;19690332;22662118;24515439;25576301;25892735;28467828;28832583;28834231;28904123;29242379;29317506;29493099;29557506;29769354;30315122;31530632;31844290;33912179;34433824;35580925;36284347;36581221", "class_list": "", "function": "Functions to negatively regulate signaling in lymphocytes GeneRIF: Overexpression of LAX in Jurkat cells specifically inhibits T cell receptor-mediated p38 MAPK activation and NFAT/AP-1 transcriptional activation., [RefSeq, PubMed]; Inhibition of signaling events involved in T cell activation by LAX occurs through mechanisms both dependent on and independent of its tyrosine phosphorylation., [RefSeq, PubMed]; Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and BCR (B-cell antigen receptor)-mediated signaling in B-cells., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TRIM required LAX for binding to Rab8 in a complex, a novel CTLA-4/TRIM/LAX/Rab8 effector complex in the transport of CTLA-4 to the surfaces of T cells, [RefSeq, PubMed]; We identified the transmembrane domain of LAX as a first motif targeting transmembrane protein constructs to detergent-resistant heavy rafts, a novel type of membrane microdomains containing a number of physiologically important proteins., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z744;J3KP69;Q6NSZ6;Q9NXB4", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042169 SH2 domain binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0046649 lymphocyte activation;GO:0006955 immune response;GO:0035556 intracellular signal transduction;GO:0042113 B cell activation;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8IWV1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBF8-1", "uniprot_id": [ { "id": "PI4KB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBF8", "type": "external" } ], "mass": 91379.0, "length": 816, "protein_name": "Phosphatidylinositol 4-kinase beta", "gene_name": "PI4KB", "organism": "Human", "refseq_name": "phosphatidylinositol 4-kinase beta isoform 2", "refseq_ac": [ { "id": "NP_001185702", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185702", "type": "external" } ], "gene_names_uniprotkb": "PI4KB; PIK4CB", "gene_names_refseq": "DFNA87; NPIK; PI4K-BETA; PI4K92; PI4KBETA; PI4KB; PI4KIIIBETA; PI4KIII; PIK4CB", "protein_names_uniprotkb": "Phosphatidylinositol 4-kinase beta; 2.7.1.67; NPIK; PI4K-beta; PI4K92; PI4KIII; PI4Kbeta; PtdIns 4-kinase beta", "protein_names_refseq": "PtdIns 4-kinase beta; phosphatidylinositol 4-kinase beta isoform 2; phosphatidylinositol 4-kinase, catalytic, beta; phosphatidylinositol 4-kinase, wortmannin-sensitive; type III phosphatidylinositol 4-kinase beta", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 87 (Disease Ontology:DOID:0070606)", "pathway": " (hsa:5298); (R-HSA-1660514)", "pathway_count": 2, "publication_count": 121, "publication_id_list": "10101268;10419465;10559940;10567352;10764818;10766823;10805725;10806194;11237011;11277933;11279162;11706043;11716755;11923287;12324459;12749687;14527956;14659893;16100512;16606619;16912074;17081983;17322306;17555535;17556371;18220336;18669648;18767875;18950639;19211563;19413330;19668216;19690332;20068231;21406692;22124328;22253445;22258260;22445341;23186163;23301498;23481700;23572552;24672044;24715725;25505266;25576301;25645385;25892735;26154972;26992070;27009356;27397612;27543614;27600516;27846572;27920218;27989622;28228285;28289207;28514659;28832583;28855257;28904123;29242379;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30917996;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33358777;33392160;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;37616163;38134218;38189249;7628435;7761412;8634694;8999962;9020160;9148941;9405935;9405938;9516481;9878262", "class_list": "", "function": "(Microbial infection) Plays an essential role in Aichi virus RNA replication (PubMed:22124328, PubMed:22258260, PubMed:27989622). Recruited by ACBD3 at the viral replication sites (PubMed:22124328, PubMed:27989622)., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) Required for cellular spike-mediated entry of human coronavirus SARS-CoV., [UniProtKB, PubMed]; Golgi retention and oncogenic KIT signaling via PLCgamma2-PKD2-PI4KIIIbeta activation in gastrointestinal stromal tumor cells., [RefSeq, PubMed]; N-terminal acetyltransferase 6 facilitates enterovirus 71 replication by regulating PI4KB expression and replication organelle biogenesis., [RefSeq, PubMed]; Phosphorylates phosphatidylinositol (PI) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate (PIP). May regulate Golgi disintegration/reorganization during mitosis, possibly via its phosphorylation. Involved in Golgi-to-plasma membrane trafficking (By similarity) (PubMed:10559940, PubMed:11277933, PubMed:12749687, PubMed:9405935). May play an important role in the inner ear development., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Recruitment of PI4KIIIbeta to the Golgi by ACBD3 is dependent on an upstream pathway of a SNARE complex and golgins., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DGI2;O15096;P78405;Q5VWB9;Q5VWC0;Q5VWC1;Q9BWR6", "ec_number_list": [ { "id": "2.7.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.67", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0071889 14-3-3 protein binding;GO:0004430 1-phosphatidylinositol 4-kinase activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005768 endosome;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0007165 signal transduction;GO:0007040 lysosome organization;GO:0006898 receptor-mediated endocytosis;GO:0048015 phosphatidylinositol-mediated signaling;GO:0006661 phosphatidylinositol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q9UBF8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HL8-1", "uniprot_id": [ { "id": "SH3Y1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HL8", "type": "external" } ], "mass": 37148.0, "length": 342, "protein_name": "SH3 domain-containing YSC84-like protein 1", "gene_name": "SH3YL1", "organism": "Human", "refseq_name": "SH3 domain-containing YSC84-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001153069", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153069", "type": "external" } ], "gene_names_uniprotkb": "SH3YL1", "gene_names_refseq": "RAY; SH3YL1", "protein_names_uniprotkb": "SH3 domain-containing YSC84-like protein 1", "protein_names_refseq": "SH3 domain containing, Ysc84-like 1; SH3 domain-containing YSC84-like protein 1 isoform 2; SH3 domain-containing YSC84-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26751)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;21624956;24508479;28904123;29557506;30779550;31154438;31217245;31222486;31492760;31686588;31848261;32157095;33223406;34087483;35051231;35318648;35580925", "class_list": "", "function": "Results provide new insight into the SH3YL1 molecular mechanism of dorsal ruffle formation and its regulation by phosphoinositide metabolism, [RefSeq, PubMed]; SH3YL1 promotes Dock4-mediated cell migration and promotes Dock4-mediated Rac1 activation., [RefSeq, PubMed]; SH3YL1 protein as a novel biomarker for diabetic nephropathy in type 2 diabetes mellitus., [RefSeq, PubMed]; The analyses of variants in theACP1-SH3YL1locus derived from whole exome sequencing data showed an association of several correlatedSNPs (rs11553746, rs2290911, rs7595075, rs2306060 and rs79716074). The rs79716074 defines *B haplotypeof theAPC1gene, which is well known for its functional role, [RefSeq, PubMed]; This study shows that SH3YL1 cooperates with ESCRT-I in the sorting and degradation of the EGF receptor. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8E7;B7WNJ4;B7WPL6;Q8NEL2;Q9H5X4;Q9Y3V5", "ec_number_list": [], "go_molecular_function": "GO:0035091 phosphatidylinositol binding;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0032587 ruffle membrane", "go_biological_process": "GO:1900027 regulation of ruffle assembly", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96HL8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43295-1", "uniprot_id": [ { "id": "SRGP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43295", "type": "external" } ], "mass": 124504.0, "length": 1099, "protein_name": "SLIT-ROBO Rho GTPase-activating protein 3", "gene_name": "SRGAP3", "organism": "Human", "refseq_name": "SLIT-ROBO Rho GTPase-activating protein 3 isoform b", "refseq_ac": [ { "id": "NP_001028289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028289", "type": "external" } ], "gene_names_uniprotkb": "SRGAP3; ARHGAP14; KIAA0411; KIAA1156; MEGAP; SRGAP2", "gene_names_refseq": "ARHGAP14; MEGAP; SRGAP2; SRGAP3; WRP", "protein_names_uniprotkb": "SLIT-ROBO Rho GTPase-activating protein 3; Mental disorder-associated GAP; Rho GTPase-activating protein 14; WAVE-associated Rac GTPase-activating protein; WRP; srGAP3", "protein_names_refseq": "SLIT-ROBO Rho GTPase activating protein 2; SLIT-ROBO Rho GTPase-activating protein 3 isoform b; WAVE-associated Rac GTPase activating protein; mental disorder-associated GAP; rho GTPase-activating protein 14", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9901); (R-HSA-428543); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 4, "publication_count": 284, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10958683;11007481;11058585;11085924;11149925;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12447388;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16730001;16762923;16777452;16777849;16862148;16896804;16914516;16959974;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18088087;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18669648;18786931;18835169;18838382;18929667;19269969;19494238;19605563;19673492;19713215;19807924;19934221;20400958;20460433;20679435;20810653;21148482;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22734669;22970203;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23940355;24086303;24259668;24300292;24335996;24352656;24561795;24584464;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25819436;25862245;25892735;25963737;26129894;26299518;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;28028151;28114311;28196833;28825699;28832583;28860633;29089502;29358323;29382922;29786170;30061681;30192525;30429286;30853411;31844290;31871319;32203420;32938616;33968037;34171305;35051231;35205259;37217939;39894887;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9829970;9843499;9846874;9988689", "class_list": "", "function": "A single PXXP motif in the C-terminal region of srGAP3 mediates binding to multiple SH3 domains., [RefSeq, PubMed]; C5 and SRGAP3 Polymorphisms Are Linked to Paediatric Allergic Asthma in the Italian Population. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that MEGAP negatively regulates cell migration by perturbing the actin and microtubule cytoskeleton and by hindering the formation of focal complexes., [RefSeq, PubMed]; Deletion of SRGAP3 provides the most convincing explanation for our patient's phenotype, and our observations lend further weight to a causative role of SRGAP3 haploinsufficiency in mental retardation., [RefSeq, PubMed]; GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons., [UniProtKB, PubMed, PubMed]; Nuclear-localized srGAP3 interacts with Brg1. This interaction is mediated by the C-terminal of srGAP3 and the ATPase motif of Brg1., [RefSeq, PubMed]; Putative role in severe mental retardation, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IX13;Q8IZV8", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0098794 postsynapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030336 negative regulation of cell migration;GO:0051963 regulation of synapse assembly", "synthesized_glycan_count": 0, "hit_score": 28.7, "record_id": "O43295-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15631-1", "uniprot_id": [ { "id": "TSN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15631", "type": "external" } ], "mass": 26183.0, "length": 228, "protein_name": "Translin", "gene_name": "TSN", "organism": "Human", "refseq_name": "translin isoform 2", "refseq_ac": [ { "id": "NP_001248330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248330", "type": "external" } ], "gene_names_uniprotkb": "TSN", "gene_names_refseq": "BCLF-1; C3PO; RCHF1; REHF-1; TBRBP; TRSLN; TSN", "protein_names_uniprotkb": "Translin; 3.1.-.-; C3PO; Component 3 of promoter of RISC", "protein_names_refseq": "component 3 of promoter of RISC; recombination hotspot associated factor; recombination hotspot-binding protein; testis brain-RNA binding protein; translin isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7247); (R-HSA-426486)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "10025964;11201747;11237011;11466336;11801738;12411504;12411505;15284456;15973356;16142218;16271386;16357216;16424907;17452327;17531811;17932509;18178619;18782830;18842624;19401777;19608861;19966796;20184375;20972213;21552258;21726814;22106413;22163034;22645359;23063653;23186163;23251028;23301498;23481700;23511973;23658827;23661684;24397554;24714562;24715725;25418920;25576301;25793518;25810538;26024233;26154972;26728094;26811146;26929215;26992070;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31442605;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33268667;33298915;33592498;33633747;33912179;33936100;33968037;34171305;34725712;34932366;35008409;35051231;35132862;35154160;35251023;35561310;35580925;36010968;36098897;36215666;36241641;36284347;37938771;40596516;40914422;7663511;9111049;9244443", "class_list": "", "function": "Biochemical characterization of clinically relevant mutations of human Translin., [RefSeq, PubMed]; DNA-binding protein that specifically recognizes consensus sequences at the breakpoint junctions in chromosomal translocations, mostly involving immunoglobulin (Ig)/T-cell receptor gene segments. Seems to recognize single-stranded DNA ends generated by staggered breaks occurring at recombination hot spots., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Exhibits both single-stranded and double-stranded endoribonuclease activity. May act as an activator of RNA-induced silencing complex (RISC) by facilitating endonucleolytic cleavage of the siRNA passenger strand., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Functional characterization of testis-brain RNA-binding protein, TB-RBP/Translin, in translational regulation., [RefSeq, PubMed]; Role of amino acid residues important for nucleic acid binding in human Translin, [RefSeq, PubMed]; This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3X8;Q5U0K7", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0016787 hydrolase activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0035194 regulatory ncRNA-mediated post-transcriptional gene silencing;GO:0030422 siRNA processing;GO:0016070 RNA metabolic process", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q15631-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43826-1", "uniprot_id": [ { "id": "G6PT1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43826", "type": "external" } ], "mass": 46360.0, "length": 429, "protein_name": "Glucose-6-phosphate exchanger SLC37A4", "gene_name": "SLC37A4", "organism": "Human", "refseq_name": "glucose-6-phosphate exchanger SLC37A4 isoform 1", "refseq_ac": [ { "id": "NP_001157749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157749", "type": "external" } ], "gene_names_uniprotkb": "SLC37A4; G6PT1; G6PT; PRO0685; TRG19", "gene_names_refseq": "CDG2W; G6PT1; G6PT2; G6PT3; G6PT; GSD1b; GSD1c; GSD1d; PRO0685; SLC37A4; SPX4; TRG-19; TRG19", "protein_names_uniprotkb": "Glucose-6-phosphate exchanger SLC37A4; Glucose-6-phosphate translocase; Glucose-6-phosphate transporter; Solute carrier family 37 member 4; TRG-19; Transformation-related gene 19 protein", "protein_names_refseq": "glucose-5-phosphate transporter; glucose-6-phosphatase transporter; glucose-6-phosphatase, transport (glucose) protein 3; glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1; glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2; glucose-6-phosphate exchanger SLC37A4 isoform 1; glucose-6-phosphate exchanger SLC37A4; glucose-6-phosphate translocase; microsomal glucose-6-phosphate transporter; solute carrier family 37 (glucose-6-phosphate transporter), member 4; sugar-phosphate exchange protein 4; transformation-related gene 19 protein", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIw (Disease Ontology:DOID:0051051); glycogen storage disease Ib (Disease Ontology:DOID:0081330); glycogen storage disease Ic (Disease Ontology:DOID:0081331)", "pathway": " (hsa:2542); (R-HSA-3229133); (R-HSA-70263)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "10023055;10026167;10229653;10323254;10482875;10482962;10518030;10714828;10874322;10923042;10931421;11071391;11237011;11506403;11851336;11949931;12093795;12409273;12437512;1278465;12965222;14718531;14722102;15059622;15669677;15710582;15953877;18337460;183598;18449899;18613815;19118303;19579760;21629566;21949678;23506893;24715725;25418920;25576301;25892735;26154972;26992070;28218747;28228285;28904123;29437277;29557506;29632046;29769354;30315122;31154438;31217245;3170585;31844290;31998317;3208766;32157095;32161166;32350084;32357974;32502341;32884905;33280276;33298915;3355497;33728255;33912179;33964207;34171305;35251023;3529090;35304602;35494241;35580925;36010968;36241641;36284347;38087503;39433915;41136424;41225049;4827367;5009693;6434534;6771269;7144574;7391027;7573034;7717389;8211187;8447317;8571957;8645161;9382095;9428641;9585002;9657976;9675154;9678974;9758626;9781688;9856496", "class_list": "glycogene", "function": "A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction., [RefSeq, PubMed]; A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis., [RefSeq, PubMed]; Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum (PubMed:10026167, PubMed:21949678). Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction (PubMed:41136424, PubMed:41225049, PubMed:33964207). Responsible for glucose production through glycogenolysis and gluconeogenesis and plays a central role in homeostatic regulation of blood glucose levels (PubMed:10026167, PubMed:21949678, PubMed:33964207)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]., [RefSeq]; Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 726, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O96016;Q5J7V4;Q9UI19;Q9UNS4", "ec_number_list": [], "go_molecular_function": "GO:0061513 glucose 6-phosphate:phosphate antiporter activity;GO:0015152 glucose-6-phosphate transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system;GO:0031090 organelle membrane", "go_biological_process": "GO:0006094 gluconeogenesis;GO:0042593 glucose homeostasis;GO:0006006 glucose metabolic process;GO:0015760 glucose-6-phosphate transport;GO:0035435 phosphate ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "O43826-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14397-1", "uniprot_id": [ { "id": "GCKR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14397", "type": "external" } ], "mass": 68685.0, "length": 625, "protein_name": "Glucokinase regulatory protein", "gene_name": "GCKR", "organism": "Human", "refseq_name": "glucokinase regulatory protein", "refseq_ac": [ { "id": "NP_001477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001477", "type": "external" } ], "gene_names_uniprotkb": "GCKR", "gene_names_refseq": "FGQTL5; GCKR; GKRP", "protein_names_uniprotkb": "Glucokinase regulatory protein; GKRP; Glucokinase regulator", "protein_names_refseq": "glucokinase (hexokinase 4) regulator; glucokinase regulatory protein; hexokinase 4 regulator", "tax_id": 9606, "disease": "end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2646); (R-HSA-170822); (R-HSA-5619107)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "10456334;10601273;11237011;11514627;12802065;14627435;18556336;18678614;19643913;23621087;23733961;28228285;29242379;29557506;31154438;31530632;31844290;33968037;35051231;35580925;37524927;37648893;37829557;38101397;39042259;8589523;9570959", "class_list": "", "function": "ChREBP is activated by reductive stress and mediates GCKR-associated metabolic traits., [RefSeq, PubMed]; GCKR and ADIPOQ gene polymorphisms in women with gestational diabetes mellitus., [RefSeq, PubMed]; Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic steatohepatitis patients of Turkish origin. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-beta and ISIMatusda in the middle-aged T2D individuals., [RefSeq, PubMed]; Prevalence of GCKR rs1260326 Variant in Subjects with Obesity Associated NAFLD and T2DM: A Case-Control Study in South Punjab, Pakistan. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates glucokinase (GCK) by forming an inactive complex with this enzyme (PubMed:23621087, PubMed:23733961). Acts by promoting GCK recruitment to the nucleus, possibly to provide a reserve of GCK that can be quickly released in the cytoplasm after a meal (PubMed:10456334). The affinity of GCKR for GCK is modulated by fructose metabolites: GCKR with bound fructose 6-phosphate has increased affinity for GCK, while GCKR with bound fructose 1-phosphate has strongly decreased affinity for GCK and does not inhibit GCK activity (PubMed:23621087, PubMed:23733961)., [UniProtKB, PubMed, PubMed, PubMed]; Regulates glucokinase (GCK) by forming an inactive complex with this enzyme. Acts by promoting GCK recruitment to the nucleus, possibly to provide a reserve of GCK that can be quickly released in the cytoplasm after a meal. The affinity of GCKR for GCK is modulated by fructose metabolites: GCKR with bound fructose 6-phosphate has increased affinity for GCK, while GCKR with bound fructose 1-phosphate has strongly decreased affinity for GCK and does not inhibit GCK activity., [UniProtKB, UniProtKB]; This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L4C2;B4DPQ2;Q53RY6;Q99522", "ec_number_list": [], "go_molecular_function": "GO:0070095 fructose-6-phosphate binding;GO:0019210 kinase inhibitor activity;GO:0141089 glucose sensor activity;GO:0019904 protein domain specific binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006110 regulation of glycolytic process;GO:0046415 urate metabolic process;GO:0001678 intracellular glucose homeostasis;GO:0034504 protein localization to nucleus;GO:0009749 response to glucose", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q14397-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46091-1", "uniprot_id": [ { "id": "CML2_HUMAN", "url": "https://www.uniprot.org/uniprot/P46091", "type": "external" } ], "mass": 41431.0, "length": 355, "protein_name": "Chemerin-like receptor 2", "gene_name": "CMKLR2", "organism": "Human", "refseq_name": "chemerin-like receptor 2", "refseq_ac": [ { "id": "NP_001091669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091669", "type": "external" } ], "gene_names_uniprotkb": "CMKLR2; GPR1", "gene_names_refseq": "CMKLR2; GPR1", "protein_names_uniprotkb": "Chemerin-like receptor 2; Chemerin chemokine-like receptor 2; Chemokine-like receptor 2; G protein-coupled receptor 1", "protein_names_refseq": "G protein-coupled receptor 1; chemerin-like receptor 2; chemokine-like receptor 2; probable G-protein coupled receptor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2825)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1101/2023.09.13.557529;10233994;11237011;12837283;15919664;16303743;18165312;20385583;24715725;27716822;29279348;32938616;33887347;33968037;34932366;35326488;39466725;7851889", "class_list": "", "function": "(Microbial infection) Coreceptor for HIV-1., [UniProtKB, PubMed]; Chemerin causes lipid metabolic imbalance and induces passive lipid accumulation in human hepatoma cell line via the receptor GPR1., [RefSeq, PubMed]; Data report that a synthetic peptide derived from the NH2-terminal extracellular region of an orphan GPCR, GPR1, inhibited infection of not only an HIV-1 variant that uses GPR1 as a co-receptor, but also X4, R5, and R5X4 viruses., [RefSeq, PubMed]; GPR1 gene is imprinted and paternally expressed in human and mouse., [RefSeq, PubMed]; GPR1 is a senescence-associated gene in normal human oral keratinocytes., [RefSeq, PubMed]; Receptor for chemoattractant adipokine chemerin/RARRES2 suggesting a role for this receptor in the regulation of inflammation and energy homesotasis (PubMed:18165312, PubMed:27716822). Signals mainly via beta-arrestin pathway. Binding of RARRES2 activates weakly G proteins, calcium mobilization and MAPK1/MAPK3 (ERK1/2) phosphorylation too (PubMed:27716822). Also acts as a receptor for TAFA1, mediates its effects on neuronal stem-cell proliferation and differentiation via the activation of ROCK/ERK and ROCK/STAT3 signaling pathway (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Structure of G protein-coupled receptor GPR1 bound to full-length chemerin adipokine reveals a chemokine-like reverse binding mode. Publication Status: Online-Only, [RefSeq, PubMed]; The Atypical Chemerin Receptor GPR1 Displays Different Modes of Interaction with beta-Arrestins in Humans and Mice with Important Consequences on Subcellular Localization and Trafficking. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A5JUU6;A8K4L1;Q53TR9;Q6NVX4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0042923 neuropeptide binding;GO:0097003 adipokinetic hormone receptor activity;GO:0097004 adipokinetic hormone binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0042593 glucose homeostasis;GO:0050727 regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P46091-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYB0-1", "uniprot_id": [ { "id": "SHAN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYB0", "type": "external" } ], "mass": 191338.0, "length": 1806, "protein_name": "SH3 and multiple ankyrin repeat domains protein 3", "gene_name": "SHANK3", "organism": "Human", "refseq_name": "SH3 and multiple ankyrin repeat domains protein 3", "refseq_ac": [ { "id": "NP_001358973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001358973", "type": "external" } ], "gene_names_uniprotkb": "SHANK3; KIAA1650; PROSAP2; PSAP2", "gene_names_refseq": "DEL22q13.3; PROSAP2; PSAP2; SCZD15; SHANK3; SPANK-2", "protein_names_uniprotkb": "SH3 and multiple ankyrin repeat domains protein 3; ProSAP2; Proline-rich synapse-associated protein 2; Shank3", "protein_names_refseq": "SH3 and multiple ankyrin repeat domains protein 3; proline rich synapse associated protein 2; shank postsynaptic density protein; shank3 postsynaptic density protein", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); schizophrenia 15 (Disease Ontology:DOID:0070091); Phelan-McDermid syndrome (Disease Ontology:DOID:0080354); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (R-HSA-6794361); (R-HSA-8853659)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10448070;10806096;10995764;11000521;11002419;11237011;11237712;11258795;11360177;11390647;11431708;11470823;11491658;11604393;11886862;12242309;12504591;12771945;12920066;14766744;15044950;15286081;15540461;15569713;16242404;16624946;16846852;17173049;17897391;17999366;18088087;18477386;18812509;18829961;19690332;20064387;20064388;20385823;20519524;21062623;21282647;21378602;22892527;22922660;23758760;24132240;24153177;24186872;24275569;25378172;28130356;38900637;39094681;39256359;39392881;7665556;7695896;7736595;8576240;8628282;8631863;8637703;8662982;8663426;8674117;9047384;9069287;9192684;9299438;9407096;9491986;9764818;9808458;9883723;9927700", "class_list": "", "function": "Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy., [RefSeq, PubMed]; Haploinsufficiency of the gene SHANK3, which codes for a structural protein of the postsynaptic density, may be a major causative factor in the neurological symptoms of 22q13 deletion syndrome., [RefSeq, PubMed]; Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to promote synapse maturation., [UniProtKB, PubMed]; Mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders., [RefSeq, PubMed]; Shank3 mutation impairs glutamate signaling and myelination in ASD mouse model and human iPSC-derived OPCs., [RefSeq, PubMed]; The SHANK3 gene was analyzed in 128 autistic patients with manifestations similar to those seen in the 22q13.3 deletion syndrome., [RefSeq, PubMed]; This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]., [RefSeq]; Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes., [RefSeq, PubMed]; [review] The presumptive exon containing the variant in the neurodevelopmentally disabled autism case highlighted in this review is not likely to be present in most or all SHANK3 transcripts. Review article, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 35, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AAG2UY11;D7UT47;Q8TET3", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0017124 SH3 domain binding;GO:0097110 scaffold protein binding;GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0043197 dendritic spine;GO:0043005 neuron projection", "go_biological_process": "GO:0097107 postsynaptic density assembly;GO:1900452 regulation of long-term synaptic depression;GO:0097117 guanylate kinase-associated protein clustering;GO:0007612 learning;GO:0007613 memory", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9BYB0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14697-1", "uniprot_id": [ { "id": "GANAB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14697", "type": "external" } ], "mass": 106874.0, "length": 944, "protein_name": "Neutral alpha-glucosidase AB", "gene_name": "GANAB", "organism": "Human", "refseq_name": "neutral alpha-glucosidase AB isoform 4", "refseq_ac": [ { "id": "NP_001265121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265121", "type": "external" } ], "gene_names_uniprotkb": "GANAB; G2AN; KIAA0088", "gene_names_refseq": "G2AN; GANAB; GIIA; GIIalpha; GLUII; PKD3", "protein_names_uniprotkb": "Neutral alpha-glucosidase AB; 3.2.1.207; Alpha-glucosidase 2; Glucosidase II subunit alpha", "protein_names_refseq": "alpha-glucosidase 2; mannosyl-oligosaccharide alpha-1,3-glucosidase; neutral alpha-glucosidase AB isoform 4", "tax_id": 9606, "disease": "polycystic liver disease (Disease Ontology:DOID:0050770); polycystic liver disease 3 (Disease Ontology:DOID:0060976); polycystic kidney disease (Disease Ontology:DOID:0080322); polycystic kidney disease 3 (Disease Ontology:DOID:0110860)", "pathway": " (hsa:23193); (R-HSA-532668); (R-HSA-901042); (R-HSA-9683686); (R-HSA-9694548); (R-HSA-9768727)", "pathway_count": 6, "publication_count": 155, "publication_id_list": "10.1101/2023.09.13.557529;10788335;10929008;11237011;12114544;12145188;1448153;15004565;15215856;15358861;15362974;16055502;16168377;16940051;17081065;17261850;17507649;18491227;18524852;20068231;20129637;22375065;22915798;23186163;23481700;24681004;24714562;24715725;24966173;25348530;25418920;25502872;25576301;25645385;25880248;26154972;26375851;26416966;26611529;26728094;26811146;26853435;26992070;27255086;27259053;27397612;27600516;27920218;28228285;28375157;28467828;28510447;28512129;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29557506;29632046;29632711;29774024;29789417;30315122;30397120;30418433;30429286;30484775;30524438;31020640;31154438;31217245;31222486;31530632;31611695;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32363391;32366695;32387766;32488085;32502341;32518941;32676595;32870666;32897882;32938616;32983136;33097077;33123756;33141586;33214551;33298915;33310888;33465208;33537174;33592498;33633747;33691108;33692335;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34117209;34171305;34357683;34405274;34428449;34433824;34509645;34528721;34545012;34599882;34725712;34932366;34961524;35008409;35051231;35083852;35154160;35251023;35318648;35561310;35580925;35879690;36010968;36215666;36241641;36284347;37074911;37217939;37376599;37938771;38665916;3881423;40596516;40914422;7876246;7982500;7986008;8102790;8910335", "class_list": "glycogene;glycosylhydrolase", "function": "Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; Glycoprotein alpha-Subunit of Glucosidase II (GIIalpha) is a novel prognostic biomarker correlated with unfavorable outcome of urothelial carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Novel GANAB variants associated with polycystic liver disease. Publication Status: Online-Only, [RefSeq, PubMed]; PKD3 promotes metastasis and growth of oral squamous cell carcinoma through positive feedback regulation with PD-L1 and activation of ERK-STAT1/3-EMT signalling. Publication Status: Online-Only, [RefSeq, PubMed]; Protein Kinase D3 Promotes the Reconstruction of OSCC Immune Escape Niche Via Regulating MHC-I and Immune Inhibit Molecules Expression., [RefSeq, PubMed]; This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1064, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NC20;Q8WTS9;Q9P0X0", "ec_number_list": [ { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.2.1.106", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.106", "type": "external" }, { "id": "3.2.1.207", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.207", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0030246 carbohydrate binding;GO:0033919 glucan 1,3-alpha-glucosidase activity;GO:0090599 alpha-glucosidase activity;GO:0106407 Glc2Man9GlcNAc2 oligosaccharide glucosidase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0043231 intracellular membrane-bounded organelle", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006491 N-glycan processing", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "Q14697-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.100.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16260-1", "uniprot_id": [ { "id": "GDC_HUMAN", "url": "https://www.uniprot.org/uniprot/P16260", "type": "external" } ], "mass": 36224.0, "length": 332, "protein_name": "Mitochondrial coenzyme A transporter SLC25A16", "gene_name": "SLC25A16", "organism": "Human", "refseq_name": "mitochondrial coenzyme A transporter SLC25A16 isoform a", "refseq_ac": [ { "id": "NP_689920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689920", "type": "external" } ], "gene_names_uniprotkb": "SLC25A16; GDA", "gene_names_refseq": "D10S105E; GDA; GDC; HGT.1; ML7; SLC25A16; hGP; hML7", "protein_names_uniprotkb": "Mitochondrial coenzyme A transporter SLC25A16; GDC; Graves disease autoantigen; Graves disease carrier protein; Graves' didease protein; Mitochondrial solute carrier protein homolog; Solute carrier family 25 member 16; hGP", "protein_names_refseq": "Graves disease autoantigen), member 16; graves disease carrier protein; graves' didease protein; mitochondrial coenzyme A transporter SLC25A16 isoform a; mitochondrial coenzyme A transporter SLC25A16; mitochondrial solute carrier protein homolog; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "Graves' disease (Disease Ontology:DOID:12361)", "pathway": " (hsa:8034); (R-HSA-199220)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10329687;10334869;10567687;11158296;11237011;12757929;12815048;1457817;16385451;17242360;18669648;19429682;21183659;23266187;25469497;2575220;26154972;27322068;28504827;28904123;29351928;31004344;31217245;31844290;32157095;32234503;32357974;32938616;33912179;33968037;34087483;34357683;35051231;36010968;36316571;36983025;40925986;8934567;9516450", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Mitochondrial inner membrane transporter that regulates coenzyme A homeostasis between cytosol and mitochondria (PubMed:11158296, PubMed:36316571, PubMed:40925986). Could mediate the import of coenzyme A from the cytosol into the mitochondrial matrix (PubMed:11158296, PubMed:40925986). Alternatively, it could function in the export of 3'-dephospho-CoA from the mitochondrial matrix to the cytosol (PubMed:36316571)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The authors findings report an extreme rare missense mutation in SLC25A1 which supports the causality of this variant for autosomal recessive form of isolated fingernail dysplasia., [RefSeq, PubMed]; This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8N2U1", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015228 coenzyme A transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0015939 pantothenate metabolic process;GO:1990559 mitochondrial coenzyme A transmembrane transport;GO:0015880 coenzyme A transport", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P16260-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUC8-1", "uniprot_id": [ { "id": "GLT13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUC8", "type": "external" } ], "mass": 64051.0, "length": 556, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 13", "gene_name": "GALNT13", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 13 isoform 2", "refseq_ac": [ { "id": "NP_001288556", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288556", "type": "external" } ], "gene_names_uniprotkb": "GALNT13; KIAA1918", "gene_names_refseq": "GALNT13", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 13; 2.4.1.41; GalNAc-T13; Polypeptide GalNAc transferase 13; Protein-UDP acetylgalactosaminyltransferase 13; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13; pp-GaNTase 13", "protein_names_refseq": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13); galNAc-T13; polypeptide GalNAc transferase 13; polypeptide N-acetylgalactosaminyltransferase 13 isoform 2; pp-GaNTase 13; protein-UDP acetylgalactosaminyltransferase 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:114805); (R-HSA-913709)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;10330415;10430883;10753916;11042166;11237011;11283017;11304796;11572484;11821425;12407114;12855678;1329093;14702039;15231747;15486459;15489334;15560372;15620693;15815621;17113861;17903295;18537974;18649358;21658281;22183981;22186971;24348519;24643043;24722188;26589799;27499036;27846572;27862975;27913570;29557506;31848261;32387766;34357683;37217939;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Can glycosylate both unmodified peptides and glycopeptides that already contain an O-linked GalNAc sugar. Transfers GalNAc to Thr-/Ser-rich tandem repeats GTTPSPVPTTSTTSAP of MUC5AC, specifically on Thr-3 of non-glycosylated MUC5AC peptide, on Thr-12 and Thr-13 of preglycosylated MUC5AC at Thr-3 (MUC5AC-3), on Thr-3 of preglycosylated MUC5AC at Thr-13 (MUC5AC-13) and on Thr-12 of preglycosylated MUC5AC at Thr-3 and Thr-13 (MUC5AC-3,13). Transfers GalNAc to three consecutive serine/threonine residues on SDC3 forming a triplet-Tn epitope expressed in Purkinje cells of the developing brain., [UniProtKB, PubMed, PubMed]; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine (GalNAc) residue from UDP-GalNAc to a serine or threonine residue on the protein receptor (PubMed:12407114, PubMed:22186971). Generates GalNAc-O-Ser/Thr structure also known as Tn antigen, which itself is immunogenic but also serves as a precursor for the synthesis of different mucin-type O-glycan core structures (PubMed:12407114). Contributes to the synthesis of O-linked glycans on mucins and proteoglycans of the central nervous system. May promote neurogenesis through glycosylation and stabilization of PDPN (By similarity) (PubMed:12407114, PubMed:22186971)., [UniProtKB, PubMed, UniProtKB, PubMed]; Cloning and characterization of pp-GalNAc-T13; expressed in all neuroblastoma cells examined and primary cultured neurons but not in glioblastoma cells and primary cultured astrocytes, [RefSeq, PubMed]; Data suggest microRNA-424 regulates expression of MGAT4A (mannoside beta-1,4-N-acetylglucosaminyltransferase A), OGT (O-linked N-acetylglucosamine transferase), and GALNT13 (polypeptide N-acetylgalactosaminyltransferase 13) in mammary epithelium., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study showed that GALNT13 mRNA is highly expressed in lung cancer patients and associated with poor prognosis. Erratum:[Int J Oncol. 2017 Feb;50(2):746. doi: 10.3892/ijo.2016.3796. PMID: 27959390], [RefSeq, PubMed]; The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004]., [RefSeq]; The GalNAc-T13 isoform is predicted to function similarly to GalNAc-T1 against peptide substrates in vivo, in contrast to a prior report, but is unique by being selectively expressed in the brain., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 823, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q08ER7;Q68VI8;Q6ZWG1;Q96PX0;Q9UIE5", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 7434, "hit_score": 5.2, "record_id": "Q8IUC8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35398-2", "uniprot_id": [ { "id": "RORA_HUMAN", "url": "https://www.uniprot.org/uniprot/P35398", "type": "external" } ], "mass": 58975.0, "length": 523, "protein_name": "Nuclear receptor ROR-alpha", "gene_name": "RORA", "organism": "Human", "refseq_name": "nuclear receptor ROR-alpha isoform c", "refseq_ac": [ { "id": "NP_002934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002934", "type": "external" } ], "gene_names_uniprotkb": "RORA; NR1F1; RZRA", "gene_names_refseq": "IDDECA; NR1F1; ROR1; ROR2; ROR3; RORA; RORa1; RORalpha; RZR-ALPHA; RZRA", "protein_names_uniprotkb": "Nuclear receptor ROR-alpha; Nuclear receptor RZR-alpha; Nuclear receptor subfamily 1 group F member 1; RAR-related orphan receptor A; Retinoid-related orphan receptor-alpha", "protein_names_refseq": "RAR-related orphan nuclear receptor alpha; ROR-alpha; nuclear receptor ROR-alpha isoform c; nuclear receptor ROR-alpha; nuclear receptor RZR-alpha; nuclear receptor subfamily 1 group F member 1; retinoic acid receptor-related orphan receptor alpha; retinoid-related orphan receptor alpha; transcription factor RZR-alpha", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); childhood-onset asthma (Disease Ontology:DOID:0080815); nocturnal asthma (Disease Ontology:DOID:0080826); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); lung non-small cell carcinoma (Disease Ontology:DOID:3908); tuberculosis (Disease Ontology:DOID:399); allergic rhinitis (Disease Ontology:DOID:4481); myocardial infarction (Disease Ontology:DOID:5844); acute myocardial infarction (Disease Ontology:DOID:9408); intellectual developmental disorder with or without epilepsy or cerebellar ataxia (MONDO:MONDO:0060745)", "pathway": " (hsa:6095); (R-HSA-1989781); (R-HSA-383280); (R-HSA-4090294); (R-HSA-6785807); (R-HSA-9707616); (R-HSA-9931509); (R-HSA-9931510); (R-HSA-9933387)", "pathway_count": 9, "publication_count": 236, "publication_id_list": "10023775;10198158;10219247;10235266;10369418;10381560;10478845;10510379;10542397;10586089;10777541;10857746;10867011;11053433;11058569;11084045;11104795;11120780;11121022;11252722;11267664;11278437;11278729;11356008;11387216;11404481;11463377;11554739;11865025;11960372;12077349;12118000;12130498;12144530;12177000;12177166;12223527;12242343;12356737;12377782;12467577;12505311;12511571;12582161;12600988;12832402;14500761;14570920;14634100;14712222;14722075;14742449;14750904;15067378;15116091;15130092;15175151;15175654;15192080;15192092;15261459;15584925;15635043;15665827;15761026;15781255;15790933;15805299;15869882;15896744;15923626;15950906;15961505;16007214;16048438;16107692;16205632;16236134;16380219;16397018;16451196;16462772;16510571;16540365;16606674;16751179;16912044;16959974;16972786;17020914;17105732;17218271;17314004;17427945;17458857;17512500;17572495;17717077;17994337;18005000;18006707;18037887;18243101;18317514;18353781;18354202;18447642;18540824;18644974;18658046;18719978;18848529;19041634;19088433;19124156;19185846;19211567;19381306;19397496;19692572;19710360;19710929;1971514;19850744;19864602;19934321;19955185;19965867;20110263;20122401;20159957;20493732;20581824;20719936;20817722;21102457;21252155;21467194;21479263;21499262;21628546;21689689;21730069;21937440;21994466;22046235;22170608;22205702;22383755;22693070;22789990;22851691;22930759;23063525;23086340;23124025;23172665;23455323;23546875;23555662;23967200;24097101;24196956;24743777;25114211;25234944;2539258;26811146;27754849;28111073;28218747;28228285;28832583;28904123;29242379;29393594;29557506;29656859;30379171;31217245;31748741;31844290;32157095;32354867;32357974;32686824;32695117;32938616;3345742;35051231;35580925;36284347;36834872;38177186;38755404;39010137;39047426;7510216;7512451;7529288;7685352;7795521;7796300;7892212;7898939;7907877;7916608;7926749;8060328;8085155;8156598;8402897;8415693;8602263;8621622;8622974;8647822;8663118;8668165;8797861;8816495;8887638;9012850;9013879;9062340;9079689;9144434;9328355;9651359;9653119;9723655;9736340;9748239;9822675;9862959;9874564", "class_list": "", "function": "Novel Therapeutic Potential of Retinoid-Related Orphan Receptor alpha in Cardiovascular Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of embryonic development, cellular differentiation, immunity, circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively. Recruits distinct combinations of cofactors to target genes regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates genes involved in photoreceptor development including OPN1SW, OPN1SM and ARR3 and skeletal muscle development with MYOD1. Required for proper cerebellum development (PubMed:29656859). Regulates SHH gene expression, among others, to induce granule cells proliferation as well as expression of genes involved in calcium-mediated signal transduction. Regulates the circadian expression of several clock genes, including CLOCK, BMAL1, NPAS2 and CRY1. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORA-mediated activation of clock genes expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Regulates genes involved in lipid metabolism such as apolipoproteins APOA1, APOA5, APOC3 and PPARG. In liver, has specific and redundant functions with RORC as positive or negative modulator of expression of genes encoding phase I and phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as CYP7B1 and SULT2A1. Induces a rhythmic expression of some of these genes. In addition, interplays functionally with NR1H2 and NR1H3 for the regulation of genes involved in cholesterol metabolism. Also involved in the regulation of hepatic glucose metabolism through the modulation of G6PC1 and PCK1. In adipose tissue, plays a role as negative regulator of adipocyte differentiation, probably acting through dual mechanisms. May suppress CEBPB-dependent adipogenesis through direct interaction and PPARG-dependent adipogenesis through competition for DNA-binding. Downstream of IL6 and TGFB and synergistically with RORC isoform 2, is implicated in the lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. Involved in hypoxia signaling by interacting with and activating the transcriptional activity of HIF1A. May inhibit cell growth in response to cellular stress. May exert an anti-inflammatory role by inducing CHUK expression and inhibiting NF-kappa-B signaling., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Retinoic acid receptor-related orphan receptor alpha and synthetic RORalpha agonist against invasion and metastasis in tongue squamous cell carcinoma., [RefSeq, PubMed]; Retinoic acid related orphan receptor alpha is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD., [RefSeq, PubMed]; The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]., [RefSeq]; The single-cell transcriptomic atlas and RORA-mediated 3D epigenomic remodeling in driving corneal epithelial differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; Tumoral periprostatic adipose tissue exovesicles-derived miR-20a-5p regulates prostate cancer cell proliferation and inflammation through the RORA gene. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "P35397;P35399;P45445;Q495X4;Q96H83", "ec_number_list": [], "go_molecular_function": "GO:0008142 oxysterol binding;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000785 chromatin", "go_biological_process": "GO:0001525 angiogenesis;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "P35398-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q502X0-1", "uniprot_id": [ { "id": "MORN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q502X0", "type": "external" } ], "mass": 8939.0, "length": 79, "protein_name": "MORN repeat-containing protein 2", "gene_name": "MORN2", "organism": "Human", "refseq_name": "MORN repeat-containing protein 2", "refseq_ac": [ { "id": "NP_001138922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138922", "type": "external" } ], "gene_names_uniprotkb": "MORN2; MOPT", "gene_names_refseq": "BLOCK27; MOPT; MORN2", "protein_names_uniprotkb": "MORN repeat-containing protein 2; MORN motif protein in testis", "protein_names_refseq": "MORN motif protein in testis; MORN repeat-containing protein 2; protein containing single MORN motif in testis", "tax_id": 9606, "disease": "", "pathway": " (hsa:729967)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;19913896;25576301;25880248;25892735;26154972;27600516;27846572;27862975;27920218;28228285;28832583;28834231;30315122;31154438;31530632;31844290;31848261;32157095;32265295;32357974;32502341;32983136;33592498;33912179;33981976;34932366;35580925;36010968;37938771", "class_list": "", "function": "MOPT is associated with dynamic regulation of acrosome biogenesis during late spermiogenesis., [RefSeq, PubMed]; Might have a role in spermatogenesis., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6UL00", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q502X0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30048-1", "uniprot_id": [ { "id": "PRDX3_HUMAN", "url": "https://www.uniprot.org/uniprot/P30048", "type": "external" } ], "mass": 27693.0, "length": 256, "protein_name": "Thioredoxin-dependent peroxide reductase, mitochondrial", "gene_name": "PRDX3", "organism": "Human", "refseq_name": "thioredoxin-dependent peroxide reductase, mitochondrial isoform c precursor", "refseq_ac": [ { "id": "NP_001289201", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289201", "type": "external" } ], "gene_names_uniprotkb": "PRDX3; AOP1", "gene_names_refseq": "AOP-1; AOP1; HBC189; MER5; PPPCD; PRDX3; PRO1748; SCAR32; SP-22; prx-III", "protein_names_uniprotkb": "Thioredoxin-dependent peroxide reductase, mitochondrial; 1.11.1.24; AOP-1; Antioxidant protein 1; HBC189; Peroxiredoxin III; Peroxiredoxin-3; Protein MER5 homolog; Prx-III; Thioredoxin-dependent peroxiredoxin 3", "protein_names_refseq": "antioxidant protein 1; epididymis secretory sperm binding protein; peroxiredoxin III; protein MER5 homolog; thioredoxin-dependent peroxide reductase, mitochondrial isoform c precursor; thioredoxin-dependent peroxide reductase, mitochondrial; thioredoxin-dependent peroxiredoxin 3", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 32 (Disease Ontology:DOID:0070413); glucose intolerance (Disease Ontology:DOID:10603); corneal dystrophy, punctiform and polychromatic pre-descemet (MONDO:MONDO:0859248)", "pathway": " (hsa:10935); (R-HSA-3299685)", "pathway_count": 2, "publication_count": 144, "publication_id_list": "10029572;10514471;10521424;10656833;10833429;10919671;10982;11018045;11139407;11507097;11518528;11886899;11912930;12011429;12059788;12446202;12492477;12829378;1286669;15044467;15046979;15064408;15280035;15317809;15596429;15750338;15927447;16401067;16615992;1668270;16750198;16880213;17275676;17519234;1763037;17707404;18358825;18703498;18936159;19219623;19462976;19542232;19608861;1999334;20070187;20367259;20690882;2071038;20873783;21215271;21385867;21393238;21850687;21967640;22493009;22869735;22910329;23152058;23164639;23301498;23454490;23455484;23576270;25047527;25418920;25505266;26758079;26811146;26992070;27090790;27238969;27846572;27862975;28832583;28904123;29242379;29437277;29438714;29557506;29632711;30192525;30315122;30444036;31020640;31217245;31782998;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32870666;32938616;32983136;33043033;33592498;33889951;33912179;33968037;34087483;34171305;34211107;34229054;34357683;34369396;3457020;34725712;35051231;35083852;35154160;35251023;35318648;3532102;35580925;3619451;36215666;36241641;36647961;3693360;37312219;37938771;38097136;38665916;38945958;5389100;60;6286671;6961438;7021796;7172448;7487923;7733872;807573;8379940;8428933;8452552;8663465;9295278;9369223;9639555;9726962;9923614", "class_list": "", "function": "Knockdown of circSOD2 ameliorates osteoarthritis progression via the miR-224-5p/PRDX3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; PRDX3 is a c-Myc target gene that is requried to maintain normal mitochondrial function. c-Myc directly activates expression of a mitochondrial peroxiredoxin that is required for Myc-mediated transformation., [RefSeq, PubMed]; PRDX3 promotes resistance to cisplatin in gastric cancer cells., [RefSeq, PubMed]; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides (PubMed:17707404, PubMed:29438714, PubMed:33889951, PubMed:7733872). Acts synergistically with MAP3K13 to regulate the activation of NF-kappa-B in the cytosol (PubMed:12492477). Required for the maintenance of physical strength (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014]., [RefSeq]; USP7-mediated ERbeta stabilization mitigates ROS accumulation and promotes osimertinib resistance by suppressing PRDX3 SUMOylation in non-small cell lung carcinoma., [RefSeq, PubMed]; YAP1 inhibits the senescence of alveolar epithelial cells by targeting Prdx3 to alleviate pulmonary fibrosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7Z0;D3DRC9;E9PH29;P35690;Q0D2H1;Q13776;Q5T5V2;Q96HK4", "ec_number_list": [ { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" } ], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process;GO:0008379 thioredoxin peroxidase activity;GO:0102039 NADH-dependent peroxiredoxin activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0008284 positive regulation of cell population proliferation;GO:0032496 response to lipopolysaccharide;GO:0043066 negative regulation of apoptotic process;GO:0051881 regulation of mitochondrial membrane potential", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "P30048-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62820-1", "uniprot_id": [ { "id": "RAB1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P62820", "type": "external" } ], "mass": 22678.0, "length": 205, "protein_name": "Ras-related protein Rab-1A", "gene_name": "RAB1A", "organism": "Human", "refseq_name": "ras-related protein Rab-1A isoform 1", "refseq_ac": [ { "id": "NP_004152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004152", "type": "external" } ], "gene_names_uniprotkb": "RAB1A; RAB1", "gene_names_refseq": "RAB1A; RAB1; YPT1", "protein_names_uniprotkb": "Ras-related protein Rab-1A; 3.6.5.2; YPT1-related protein", "protein_names_refseq": "GTP binding protein Rab1a; RAB1, member RAS oncogene family; Rab GTPase YPT1 homolog; YPT1-related protein; ras-related protein Rab-1A isoform 1; ras-related protein Rab-1A", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:5861); (R-HSA-162658); (R-HSA-204005); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 7, "publication_count": 444, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10747087;10761932;10788476;10818110;10825291;10903204;10921873;10982397;10990452;11035026;11035033;11038176;11141079;11172815;11179213;11230166;11237011;11238451;11285137;11306556;11389151;11408587;11447212;11447294;11461920;11493604;11516400;11675392;11689439;11689559;11703925;11703931;11726511;11739401;11739780;11746448;11748249;11784320;11917121;11927603;12047556;12058051;12070132;12221131;12235121;12244319;12364329;12388752;12427552;12475894;12634853;12684051;12695496;12839990;12944476;12972505;14504276;14654841;14742712;15029241;15037235;15096524;15138286;1516130;15247254;15272311;15388334;15528189;15561770;15616190;15632110;15678101;15692570;15728195;15813748;15878329;15878873;15914536;15958533;16030262;16207721;16303754;1631136;16373702;16401880;16410077;1648736;16495487;16525024;16525121;16533948;16571673;16571679;16624868;16633337;16641372;16723730;16754960;1680566;16880209;16912714;16926190;16940185;16950109;17005010;17038314;17043139;17113389;17114793;17132146;17182854;17189207;17192411;17208202;17239822;17253781;17274799;17287728;17316621;17360540;17411337;17429068;17451557;17488286;17562788;17574030;17646400;17671165;17678623;17684057;17760859;17927562;17956946;18076383;18086915;18094055;18167358;18182008;18283113;18287528;18354496;18367545;18385516;18434598;1845915;18477474;18524849;18532927;18559336;18585354;18664496;18701652;18779367;18804435;18809720;18843296;1898986;1900457;19015319;1902553;19109418;19109890;19151722;19164740;19296914;19345684;19369418;19403694;19490898;1957170;19603039;19620288;19631211;19638414;19651986;19656848;19725050;19729655;19745841;19758564;19942850;20005805;20008558;20068231;20083603;20136777;20154091;20159109;20159556;20176951;20214750;20305638;20308558;20357002;20404108;20427317;20434987;20462495;20534429;20545907;20592283;20637885;20639577;20679433;20797862;20851765;20861236;20937701;20937827;20966969;21041651;2115402;21183348;21187289;21216617;21219331;21273506;21303926;21330364;21421921;21445324;21458671;21478858;21532587;21550981;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21822290;21844168;21951725;22013193;22065758;22072793;22094269;22157747;22158903;22171327;22223895;22304919;22365832;22416225;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22675024;22694141;22705394;22726585;22762500;22908308;22939626;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23396477;23420520;23444368;23478338;23479643;23481700;23588383;23645161;23678941;23684622;23698585;23713133;23815289;23821544;23839779;23864707;24023390;24119662;24296415;24644286;24694596;24719330;24806965;24891604;24917561;24967941;2501306;25074980;25202031;25341920;25343031;25364732;25406594;25436559;25472813;25492864;25502872;25576301;25586378;25619252;25648148;25713415;25925668;26055712;26177209;26209634;26245486;26434594;26538022;26925400;26936971;26969162;26992070;27041585;27044746;27103185;27246931;27329675;27334615;27452731;27846572;28871256;28904123;29242379;29314611;29557506;30315122;30444036;30484775;31020640;31217245;31844290;31848261;32157095;32350084;32357974;32488085;32504010;32938616;32974215;32983136;33043033;33298915;33592498;33912179;33936100;33968037;34019948;34078123;34171305;34357683;34433824;34725712;34932366;35051231;35083852;35154160;35251023;35318648;35343654;35580925;36010968;36215666;36241641;36284347;36566018;36602343;37117331;37217939;37924809;38040402;38665916;7688123;7691276;7737117;7844144;7911226;7957092;7991565;8001155;8128252;8132710;8144603;8164745;8221884;8253837;8349690;8375503;8408203;8505331;8513495;8522602;8620540;8631982;8636227;8662963;8663406;8836150;8863739;8991093;9020086;9020161;9030515;9094723;9114004;9136770;9150144;9177194;9244307;9288971;9307973;9323141;9323142;9380700;9382863;9405360;9490716;9590177;9647643;9671725;9733780;9751720;9753325;9990005", "class_list": "", "function": "Deubiquitinating enzyme PSMD7 promotes bladder cancer development: Involvement of RAB1A stabilization., [RefSeq, PubMed]; Prognosis value and positive association of Rab1A/IL4Ralpha aberrant expression in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation., [RefSeq, PubMed]; SGOL2 promotes prostate cancer progression by inhibiting RAB1A ubiquitination., [RefSeq, PubMed]; Subcellular Distribution of BALF2 and the Role of Rab1 in the Formation of Epstein-Barr Virus Cytoplasmic Assembly Compartment and Virion Release., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:20639577, PubMed:20861236, PubMed:21303926, PubMed:22939626). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:20639577, PubMed:20861236, PubMed:21303926, PubMed:22939626). RAB1A regulates vesicular protein transport from the endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and growth hormone secretion (PubMed:21303926). Required to modulate the compacted morphology of the Golgi (PubMed:26209634). Regulates the level of CASR present at the cell membrane (PubMed:20861236). Plays a role in cell adhesion and cell migration, via its role in protein trafficking (PubMed:20639577). Plays a role in autophagosome assembly and cellular defense reactions against pathogenic bacteria (PubMed:22939626). Plays a role in microtubule-dependent protein transport by early endosomes and in anterograde melanosome transport (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P11476;Q6FIE7;Q96N61;Q9Y3T2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0045296 cadherin binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0090110 COPII-coated vesicle cargo loading;GO:1903020 positive regulation of glycoprotein metabolic process;GO:0000045 autophagosome assembly;GO:0006886 intracellular protein transport;GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 44.7, "record_id": "P62820-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMM9-1", "uniprot_id": [ { "id": "ST1A3_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMM9", "type": "external" } ], "mass": 34196.0, "length": 295, "protein_name": "Sulfotransferase 1A3", "gene_name": "SULT1A3; SULT1A4", "organism": "Human", "refseq_name": "sulfotransferase 1A3", "refseq_ac": [ { "id": "NP_808220", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808220", "type": "external" } ], "gene_names_uniprotkb": "SULT1A3; SULT1A4; STM; SULT1A3", "gene_names_refseq": "HAST3; HAST; M-PST; ST1A3/ST1A4; ST1A3; ST1A4; ST1A5; STM; SULT1A3; TL-PST", "protein_names_uniprotkb": "Sulfotransferase 1A3; 2.8.2.1; Aryl sulfotransferase 1A3/1A4; Catecholamine-sulfating phenol sulfotransferase; HAST3; M-PST; Monoamine-sulfating phenol sulfotransferase; Placental estrogen sulfotransferase; ST1A3; Sulfotransferase 1A3/1A4; Sulfotransferase, monoamine-preferring; TL-PST; Thermolabile phenol sulfotransferase", "protein_names_refseq": "Sulfotransferase 1A4; aryl sulfotransferase 1A3/1A4; catecholamine-sulfating phenol sulfotransferase; dopamine-specific sulfotransferase; monoamine-sulfating phenosulfotransferase; phenol sulfotransferase 1A5; placental estrogen sulfotransferase; sulfokinase; sulfotransferase 1A3; sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3; thermolabile (monoamine, M form) phenol sulfotransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:445329); (hsa:6818); (R-HSA-156584); (R-HSA-381038); (R-HSA-9753281)", "pathway_count": 5, "publication_count": 102, "publication_id_list": "10199779;10224133;10503886;10512730;10543947;10601334;10741631;10827079;11077054;11154739;11237011;11457664;11714888;11739018;12039030;12145317;12204115;12372849;12473676;12889478;14622112;14672934;15358107;15466936;16083857;16461360;16539657;16696573;17627974;17924658;18232020;18357469;18606703;18664523;18672380;19463;19842618;20068231;20190787;21282569;21666065;21712391;22349737;22406294;2268288;23479625;23481380;23682772;2573352;26049587;26067475;27862975;28510447;29524394;29705271;30429286;31145702;31844290;32152050;32157095;32387766;32472168;32983136;3395122;34171305;35051231;35580925;36241641;36284347;37487659;38069221;6139755;6770210;6950087;70646;7469630;7590364;7678732;7695637;7695643;7779757;7802665;7829089;7961757;8093002;8117269;8185618;8187949;8363592;8666242;8697101;8813074;9024171;9034160;9037597;9080;9450183;9463486;9473480;9501187;9566739;9852044", "class_list": "", "function": "2 SULT1A3 genes were present on chromosome 16 in all DNA samples studied., [RefSeq, PubMed]; Effects of human SULT1A3/SULT1A4 genetic polymorphisms on the sulfation of acetaminophen and opioid drugs by the cytosolic sulfotransferase SULT1A3, [RefSeq, PubMed]; Farnesoid X receptor represses human sulfotransferase 1A3 expression through direct binding to the promoter., [RefSeq, PubMed]; Interaction of the Brain-Selective Sulfotransferase SULT4A1 with Other Cytosolic Sulfotransferases: Effects on Protein Expression and Function., [RefSeq, PubMed]; Role of Conformational Dynamics of Sulfotransferases SULT1A1 and SULT1A3 in Substrate Specificity. Publication Status: Online-Only, [RefSeq, PubMed]; Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16; this gene and SULT1A4 arose from a segmental duplication. This gene is the most centromeric of the four sulfotransferase genes. Read-through transcription exists between this gene and the upstream SLX1A (SLX1 structure-specific endonuclease subunit homolog A) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010]., [RefSeq]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, (R)-adrenaline/epinephrine, (R)-noradrenaline/norepinephrine and serotonin) and phenolic and catechol drugs (PubMed:8093002, PubMed:29524394, PubMed:14622112, PubMed:15358107). Catalyzes the sulfation of T4 (L-thyroxine/3,5,3',5'-tetraiodothyronine), T3 (3,5,3'-triiodothyronine), rT3 (3,3',5'-triiodothyronine) and 3,3'-T2 (3,3'-diiodothyronine), with a substrate preference of 3,3'-T2 > rT3 > T3 > T4 (PubMed:10199779)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The results obtained showed clearly the differential enzymatic characteristics of SULT1A3 allozymes in mediating the sulfation of phenylephrine and salbutamol. This information may contribute toward a better understanding of the pharmacokinetics of these two drugs in individuals with distinct SULT1A3 and/or SULT1A4 genotypes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DNV0;O95603;P50224;Q1ET66;Q6ZWJ5", "ec_number_list": [ { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.1", "type": "external" }, { "id": "2.8.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.4", "type": "external" }, { "id": "2.8.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.14", "type": "external" }, { "id": "2.8.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.2", "type": "external" }, { "id": "2.8.2.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.n2", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0004062 aryl sulfotransferase activity;GO:0047685 amine sulfotransferase activity;GO:0043199 sulfate binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051923 sulfation;GO:0006068 ethanol catabolic process;GO:0006805 xenobiotic metabolic process;GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process;GO:1903351 cellular response to dopamine", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "P0DMM9-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02787-1", "uniprot_id": [ { "id": "TRFE_HUMAN", "url": "https://www.uniprot.org/uniprot/P02787", "type": "external" } ], "mass": 77064.0, "length": 698, "protein_name": "Serotransferrin", "gene_name": "TF", "organism": "Human", "refseq_name": "serotransferrin isoform 1 precursor", "refseq_ac": [ { "id": "NP_001054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001054", "type": "external" } ], "gene_names_uniprotkb": "TF; PRO1400", "gene_names_refseq": "HEL-S-71p; PRO1557; PRO2086; TFQTL1; TF", "protein_names_uniprotkb": "Serotransferrin; Beta-1 metal-binding globulin; Siderophilin; Transferrin", "protein_names_refseq": "beta-1 metal-binding globulin; epididymis secretory sperm binding protein Li 71p; serotransferrin isoform 1 precursor; serotransferrin; siderophilin", "tax_id": 9606, "disease": "restless legs syndrome (Disease Ontology:DOID:0050425); atransferrinemia (Disease Ontology:DOID:0050649); chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419); hypertension (Disease Ontology:DOID:10763); membranous glomerulonephritis (Disease Ontology:DOID:10976); iron deficiency anemia (Disease Ontology:DOID:11758); hepatitis (Disease Ontology:DOID:2237); anemia (Disease Ontology:DOID:2355); glomerulonephritis (Disease Ontology:DOID:2921); hyperglycemia (Disease Ontology:DOID:4195); gastrointestinal system disease (Disease Ontology:DOID:77); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7018); (R-HSA-114608); (R-HSA-381426); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8957275); (R-HSA-917937); (R-HSA-917977)", "pathway_count": 8, "publication_count": 395, "publication_id_list": "37268159;10026136;10029548;10077652;10097102;10218588;10409623;10436022;10512690;10535736;10542231;10559856;10559861;10559924;10567358;10597293;10613896;10614670;10625686;10681634;10766823;10769163;10802645;10810289;10898936;10912521;10929010;10931525;10951195;10983987;10990447;11071885;11076969;11082044;11110675;11158056;11231140;11237011;11239472;11247302;11250653;11264294;11316783;11323407;11454741;11470803;11516654;11517213;11522292;11532990;11577110;11588219;11606061;11702220;11703331;11739083;11751371;11788658;11800564;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12241545;12379487;12429842;12447393;12451172;12453412;12464600;12466191;12504026;12531241;12717448;12810533;12847086;12904166;12944396;12952949;12958161;12958364;1317852;1370451;1383255;1435334;14555962;1456441;14576842;14581451;14617351;14622578;14622579;14630798;14662753;14726597;14760718;15001581;15044468;15084671;15126567;15134832;15201052;15252009;15260957;15297306;15308688;15318165;15339664;1535555;15466165;15469690;15473838;15474009;15485880;15502812;15502813;15525596;15531878;15536627;15537541;15642270;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16143108;16159959;16215232;16227996;16274220;16326391;16335952;16377569;16407072;16410077;16459302;16460808;16510471;16516836;16564538;16609065;16707488;16723738;16740002;16793765;16798879;16880396;16903783;17018281;17035995;17047378;17158794;17249697;17267500;17312271;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17662945;17681954;17713526;17729390;17762867;17765681;17978091;17985932;18032517;18083107;1809186;18093523;18166656;18194661;18199683;18388313;1847920;18514042;18775314;18790740;18794901;18819912;18981233;19092055;19139490;19140243;19159218;19287005;19296720;1932003;19458185;1946430;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19762596;19762597;19776351;19809571;19838169;19853559;20033059;20059951;20211604;20231386;20351096;20428113;20448150;20550936;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;2154449;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22299025;22327295;22343719;22357968;22484487;22505844;2257624;22815487;22863004;22905912;22942912;23090970;23297414;23536704;23576270;23615448;23640497;23823722;23861397;23891661;24130457;24186068;24190977;24384571;24417605;24530628;24581490;24680432;24746795;2476804;24780636;24789820;2479552;24841998;24966051;25107275;25153361;25303366;25341920;25418920;25425657;26042225;26091039;26205815;26375851;26403691;26791533;26829388;27452731;2780570;28218747;2890644;29242379;29391424;29427759;29508533;29632711;29671580;29741879;29950717;29992770;30237853;30337524;30397120;30429286;30459171;3106157;31636418;32125861;33889819;3417785;34725484;36543268;3678832;37074911;37217939;37277838;3786138;37930135;37958917;37964689;38048991;3858812;38665916;39280001;6141558;6146630;6309857;6322780;6457647;6585826;6833213;6953407;7498159;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7569928;7588299;7683646;7689487;7822302;7867791;7877694;7944531;7983023;8041788;8174273;8467233;8524399;8552632;8553074;8695634;8781553;8817670;8837779;8894645;8964575;9092476;9100026;9169477;9272172;9303539;9358047;9427626;9428629;9465039;9497324;9609685;9635431;9666724;9709957;9723620;9733769;9736607;9751792;9760232;9786878;9803271;9812899;9922210", "class_list": "", "function": "(Microbial infection) Serves as an iron source for Neisseria species, which capture the protein and extract its iron for their own use., [UniProtKB, PubMed, PubMed]; (Microbial infection) Serves as an iron source for parasite T.brucei (strain 427), which capture TF via its own transferrin receptor ESAG6:ESAG7 and extract its iron for its own use., [UniProtKB, PubMed]; Association between serum transferrin saturation levels and heart failure in adults aged >/=40 years: a cross-sectional study based on NHANES (2017-2020.03). Publication Status: Online-Only, [RefSeq, PubMed]; Cohort-Based Reference Values for Serum Ferritin and Transferrin and Longitudinal Determinants of Iron Status in European Children Aged 3-15 Years., [RefSeq, PubMed]; Evaluation of salivary transferrin in patients with oral squamous cell carcinoma., [RefSeq, PubMed]; Height of non-Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt., [RefSeq, PubMed]; Meconium Transferrin and Ferritin as Markers of Homeostasis in the Developing Fetus. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]., [RefSeq]; Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 45, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 298, "disease_count": 13, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O43890;Q1HBA5;Q9NQB8;Q9UHV0", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0044325 transmembrane transporter binding;GO:0008198 ferrous iron binding;GO:0034986 iron chaperone activity;GO:1990459 transferrin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0007166 cell surface receptor signaling pathway;GO:0019731 antibacterial humoral response;GO:0006879 intracellular iron ion homeostasis;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 70.2, "record_id": "P02787-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100001001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00635-1", "uniprot_id": [ { "id": "TRI38_HUMAN", "url": "https://www.uniprot.org/uniprot/O00635", "type": "external" } ], "mass": 53416.0, "length": 465, "protein_name": "E3 ubiquitin-protein ligase TRIM38", "gene_name": "TRIM38", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM38", "refseq_ac": [ { "id": "NP_006346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006346", "type": "external" } ], "gene_names_uniprotkb": "TRIM38; RNF15; RORET", "gene_names_refseq": "RNF15; RORET; TRIM38", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM38; 2.3.2.27; RING finger protein 15; Tripartite motif-containing protein 38; Zinc finger protein RoRet", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM38; RING-type E3 ubiquitin transferase TRIM38; Ro/SSA ribonucleoprotein homolog; ring finger protein 15; tripartite motif-containing protein 38; zinc finger protein RoRet", "tax_id": 9606, "disease": "", "pathway": " (hsa:10475); (R-HSA-877300)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10067896;10986460;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;18362138;18591661;20049711;20130243;20304997;20363976;23056470;23061660;23481700;24275569;24417533;24434549;24714562;24715725;25576301;25880248;26728094;26992070;27600516;27846572;27920218;28510447;28832583;28834231;29242379;29493099;29508533;29557506;29632711;29786170;30379171;30429286;30833945;31844290;31848261;32157095;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33239784;33592498;33717175;33912179;33968037;33981976;34906161;35051231;35580925;36010968;36241641;36623352;37116711;37566200;38012139;40596516;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706;9149941", "class_list": "", "function": "E3 ubiquitin-protein and E3 SUMO-protein ligase that acts as a regulator of innate immunity (PubMed:23056470). Acts as a negative regulator of type I interferon IFN-beta production by catalyzing 'Lys-48'-linked polyubiquitination of AZI2/NAP1, leading to its degradation (By similarity). Mediates 'Lys-48'-linked polyubiquitination and proteasomal degradation of the critical TLR adapter TICAM1, inhibiting TLR3-mediated type I interferon signaling (PubMed:23056470). Acts as positive regulator of the cGAS-STING pathway by acting as a E3 SUMO-protein ligase: mediates sumoylation of CGAS and STING, preventing their degradation and thereby activating the innate immune response to DNA virus (By similarity). Also acts as a negative regulator of NF-kappa-B signaling independently of its E3 protein ligase activity by promoting lysosome-dependent degradation of TAB2 and TAB3 adapters (PubMed:24434549)., [UniProtKB, PubMed, UniProtKB, PubMed]; Investigation into the role of the MITA-TRIM38 interaction in regulating pyroptosis and maintaining immune tolerance at the maternal-fetal interface. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM38 suppresses migration, invasion, metastasis, and proliferation in non-small cell lung cancer (NSCLC) via regulating the AMPK/NF-kappaB/NLRP3 pathway., [RefSeq, PubMed]; TRIM38 triggers the uniquitination and degradation of glucose transporter type 1 (GLUT1) to restrict tumor progression in bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The antiviral activity of tripartite motif protein 38 in hepatitis B virus replication and gene expression and its association with treatment responses during PEG-IFN-alpha antiviral therapy., [RefSeq, PubMed]; This gene encodes a member of the tripartite motif (TRIM) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Jul 2012]., [RefSeq]; Tripartite motif 38 alleviates the pathological process of NAFLD-NASH by promoting TAB2 degradation., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R862", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046596 regulation of viral entry into host cell;GO:0016925 protein sumoylation;GO:0045087 innate immune response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0046598 positive regulation of viral entry into host cell", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O00635-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17752-1", "uniprot_id": [ { "id": "TPH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P17752", "type": "external" } ], "mass": 50985.0, "length": 444, "protein_name": "Tryptophan 5-hydroxylase 1", "gene_name": "TPH1", "organism": "Human", "refseq_name": "tryptophan 5-hydroxylase 1", "refseq_ac": [ { "id": "NP_004170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004170", "type": "external" } ], "gene_names_uniprotkb": "TPH1; TPH; TPRH; TRPH", "gene_names_refseq": "TPH1; TPRH; TRPH", "protein_names_uniprotkb": "Tryptophan 5-hydroxylase 1; 1.14.16.4; Tryptophan 5-monooxygenase 1", "protein_names_refseq": "L-tryptophan hydroxylase; indoleacetic acid-5-hydroxylase; tryptophan 5-hydroxylase 1; tryptophan 5-monooxygenase 1; tryptophan hydroxylase (tryptophan 5-monooxygenase)", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); autism spectrum disorder (Disease Ontology:DOID:0060041); scoliosis (Disease Ontology:DOID:0060249); Alzheimer's disease (Disease Ontology:DOID:10652); borderline personality disorder (Disease Ontology:DOID:10930); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); schizophrenia (Disease Ontology:DOID:5419); postpartum depression (Disease Ontology:DOID:9478); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:7166); (R-HSA-209931); (R-HSA-9031628)", "pathway_count": 3, "publication_count": 145, "publication_id_list": "10203854;10381005;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10984481;11018254;11027551;11237011;11280768;11331872;11343657;11567222;11755530;11840323;11956230;12379098;12399542;12511643;1377233;14522948;14597720;14969744;15102911;15161978;1540578;15449318;15542842;15620361;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;16287845;16339507;16407550;16484497;16574654;16732277;17088210;17088211;17088212;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;19061646;19116276;19193899;19194657;19926875;2017159;2040600;20506119;2052361;2072895;21057636;2109185;21326363;21486943;21621608;22053691;22065583;22302795;2237820;2377472;24060757;25248477;25569790;25748042;2590185;26018600;2676516;27041596;27128622;27220739;28076410;28228285;28275114;28286024;29557506;29559111;3127059;32502341;33592498;34772352;35051231;35254053;35473609;36284347;3672127;38509264;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;7986090;7989373;8090221;8090222;8248782;8413279;8483478;8576248;8583621;8661026;8668170;8756618;8846918;8918830;9032251;9084409;9109552;9343422;9390517;9418898;9622090;9722618;9751214;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "A microbially produced AhR ligand promotes a Tph1-driven tolerogenic program in multiple sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Oxidizes L-tryptophan to 5-hydroxy-l-tryptophan in the rate-determining step of serotonin biosynthesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TPH1 gene polymorphism rs211105 is associated with serotonin and tryptophan hydroxylase 1 concentrations in acute pancreatitis patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.[provided by RefSeq, Apr 2009]., [RefSeq]; Tryptophan hydroxylase 1 drives glioma progression by modulating the serotonin/L1CAM/NF-kappaB signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DQX6;O95188;O95189;Q16736;Q3KPG8", "ec_number_list": [ { "id": "1.14.16.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.16.4", "type": "external" } ], "go_molecular_function": "GO:0004510 tryptophan 5-monooxygenase activity;GO:0005506 iron ion binding;GO:0016714 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen", "go_cellular_component": "GO:0005829 cytosol;GO:0043005 neuron projection", "go_biological_process": "GO:0002576 platelet degranulation;GO:0042427 serotonin biosynthetic process;GO:0006587 serotonin biosynthetic process from tryptophan;GO:1900046 regulation of hemostasis;GO:0009072 aromatic amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "P17752-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQR9-1", "uniprot_id": [ { "id": "G6PC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQR9", "type": "external" } ], "mass": 40580.0, "length": 355, "protein_name": "Glucose-6-phosphatase 2", "gene_name": "G6PC2", "organism": "Human", "refseq_name": "glucose-6-phosphatase 2 isoform 2", "refseq_ac": [ { "id": "NP_001075155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075155", "type": "external" } ], "gene_names_uniprotkb": "G6PC2; IGRP", "gene_names_refseq": "G6PC2; IGRP", "protein_names_uniprotkb": "Glucose-6-phosphatase 2; 3.1.3.9; G-6-Pase 2; G6Pase 2; Islet-specific glucose-6-phosphatase catalytic subunit-related protein", "protein_names_refseq": "G-6-Pase 2; G6Pase 2; glucose-6-phosphatase 2 isoform 2; glucose-6-phosphatase 2; glucose-6-phosphatase, catalytic, 2; islet-specific G6CP-related protein; islet-specific glucose-6-phosphatase catalytic subunit-related protein; islet-specific glucose-6-phosphatase-related protein", "tax_id": 9606, "disease": "type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:57818); (R-HSA-70263)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10229653;10714828;11237011;11297555;11506403;11851336;12093795;12437512;1278465;12965222;14718531;14722102;15044018;15710582;16012821;16493034;16493087;16520917;17065343;17065344;17327428;17376840;18305140;18337460;18358785;183598;18449899;18451265;18613815;19118303;19180473;19837003;20086230;21799852;21949678;23506893;23803704;24478396;25249579;25302633;25728493;28228285;28300170;28887632;29196783;29429978;29506985;29851415;30008714;30418433;30428974;3170585;31844290;3208766;32157332;32488085;32928873;3355497;33836029;35051231;3529090;35534112;35657990;37325626;37481700;37855366;38095063;39066679;39121091;4827367;5009693;6434534;6771269;7144574;7391027;7573034;7717389;8211187;8447317;8571957;8645161;9382095;9428641;9585002;9657976;9678974;9758626", "class_list": "glycogene", "function": "Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Alpha mutants containing the beta cell antigen sequence are preferentially degraded in cells, which prevents targeting by pathogenic CD8+ T cells implying that IGRP levels in beta cells could dictate susceptibilities to diabetes., [RefSeq, PubMed]; Data show that islet-specific glucose-6-phosphatase-related protein is an endoplasmic reticulum membrane glycoprotein, and is degraded through the proteasome pathway that generates the major histocompatibility complex class I-presented peptides., [RefSeq, PubMed]; G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity. Publication Status: Online-Only, [RefSeq, PubMed]; IGRP is likely the authentic islet-specific glucose-6-phosphatase catalytic subunit, and selective inhibitors to this molecule can be obtained, [RefSeq, PubMed]; Identification of structural motifs critical for human G6PC2 function informed by sequence analysis and an AlphaFold2-predicted model., [RefSeq, PubMed]; May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis (By similarity)., [UniProtKB]; Multiple promoter and enhancer differences likely contribute to augmented G6PC2 expression in human versus mouse pancreatic islet alpha cells. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in G6PC2 gene with increased risk for development of type 2 diabetes: Understanding via computational approach., [RefSeq, PubMed]; This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 495, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E9PAX2;Q6AHZ0", "ec_number_list": [ { "id": "3.1.3.94", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.94", "type": "external" }, { "id": "3.1.3.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.25", "type": "external" }, { "id": "3.1.3.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.9", "type": "external" } ], "go_molecular_function": "GO:0004346 glucose-6-phosphatase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006094 gluconeogenesis;GO:0042593 glucose homeostasis;GO:0050796 regulation of insulin secretion;GO:0051156 glucose 6-phosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9NQR9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3E0-1", "uniprot_id": [ { "id": "GOT1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3E0", "type": "external" } ], "mass": 15426.0, "length": 138, "protein_name": "Vesicle transport protein GOT1B", "gene_name": "GOLT1B", "organism": "Human", "refseq_name": "vesicle transport protein GOT1B", "refseq_ac": [ { "id": "NP_057156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057156", "type": "external" } ], "gene_names_uniprotkb": "GOLT1B; CGI-141; GCT2; GOT1A; HDCMA39P; PRO793", "gene_names_refseq": "CGI-141; GCT2; GOLT1B; GOT1B; GOT1; YMR292W", "protein_names_uniprotkb": "Vesicle transport protein GOT1B; Germ cell tumor 2; Golgi transport 1 homolog B; Putative NF-kappa-B-activating protein 470; hGOT1a", "protein_names_refseq": "germ cell tumor 2; hGOT1a; putative NF-kappa-B-activating protein 470; vesicle transport protein GOT1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:51026)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10406798;11230166;11237011;12414650;12761501;12975309;22223895;25576301;27846572;28904123;31217245;31611695;31844290;32938616;33592498;33936100;33968037;34561969;36215666", "class_list": "", "function": "May be involved in fusion of ER-derived transport vesicles with the Golgi complex., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4R4;Q54A40;Q6I9W6;Q9P1R9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0015031 protein transport;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9Y3E0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19440-1", "uniprot_id": [ { "id": "GGT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P19440", "type": "external" } ], "mass": 61410.0, "length": 569, "protein_name": "Glutathione hydrolase 1 proenzyme", "gene_name": "GGT1", "organism": "Human", "refseq_name": "glutathione hydrolase 1 proenzyme precursor", "refseq_ac": [ { "id": "NP_001275762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275762", "type": "external" } ], "gene_names_uniprotkb": "GGT1; GGT", "gene_names_refseq": "CD224; D22S672; D22S732; GGT 1; GGT1; GGTD; GGT; GTG", "protein_names_uniprotkb": "Glutathione hydrolase 1 proenzyme; 2.3.2.2; 3.4.19.13; 3.4.19.14; GGT 1; Gamma-glutamyltransferase 1; Gamma-glutamyltranspeptidase 1; Leukotriene-C4 hydrolase", "protein_names_refseq": "gamma-glutamyltranspeptidase 1; glutathione hydrolase 1 proenzyme precursor; glutathione hydrolase 1 proenzyme; leukotriene-C4 hydrolase; testicular tissue protein Li 73", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); gamma-glutamyl transpeptidase deficiency (Disease Ontology:DOID:0111257); gestational diabetes (Disease Ontology:DOID:11714); biliary atresia (Disease Ontology:DOID:13608); melanoma (Disease Ontology:DOID:1909); aflatoxins-related hepatocellular carcinoma (Disease Ontology:DOID:5022); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:2678); (R-HSA-174403); (R-HSA-2142691); (R-HSA-5423646); (R-HSA-5579022); (R-HSA-9035968); (R-HSA-9664535); (R-HSA-9753281)", "pathway_count": 8, "publication_count": 161, "publication_id_list": "10.1101/2023.09.13.557529;10064732;10369661;10391245;10392451;10462554;10741631;10779545;10851239;11237011;11409944;11714888;11844797;11904223;12144777;12235216;12473676;12727802;12933810;1359745;1378736;1504254;15084671;15604543;16385575;1643250;16696573;16795963;16970545;17627974;17924658;18184802;18232020;18357469;18416522;18477386;1848634;18515354;18647347;19109178;19159218;19349973;19463;1968061;19743890;19842618;20190787;20436887;20622017;21447318;21666065;21712391;22349737;22406294;23076889;23090970;23682772;24047895;24190977;24715725;25043373;2563599;2568315;2573352;25931127;26013825;26049587;26067475;26154972;26811146;26840264;27046942;2753893;27646551;2768222;27791009;28063628;28228285;2836406;28467828;28514659;2864155;2866075;2877850;2882965;28832583;28834231;28871256;28904123;2896486;2900635;2904146;2907498;29133059;29242379;29391424;29393594;29483667;29632046;29741879;2995393;3006030;3020588;30669;3118366;3164719;31844290;32125861;32157095;32325220;32350084;32357974;32472168;32938616;33592498;3372534;33912179;3395122;33968037;34433824;34561969;34932366;35051231;35251023;3563417;37074911;39302247;3931076;3933675;6122208;6293969;6490615;6950087;70646;7469630;7646467;7673200;7689219;7759490;7764673;7766804;7826375;7937884;8052639;8095045;8394361;8439558;8576264;8703034;8812420;8813074;8827453;8975785;9024171;9080;9278457;9461497;9516961;9576847;9675072;9738450", "class_list": "", "function": "Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates (such as maresin conjugate (13R)-S-glutathionyl-(14S)-hydroxy-(4Z,7Z,9E,11E,16Z,19Z)-docosahexaenoate, MCTR1) and other gamma-glutamyl compounds (such as leukotriene C4, LTC4) (PubMed:17924658, PubMed:21447318, PubMed:27791009). The metabolism of glutathione by GGT1 releases free glutamate and the dipeptide cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases (PubMed:27791009). In the presence of high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction, transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound (PubMed:17924658, PubMed:21447318, PubMed:7673200, PubMed:7759490, PubMed:8095045, PubMed:8827453). Contributes to cysteine homeostasis, glutathione homeostasis and in the conversion of the leukotriene LTC4 to LTD4., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Seems to be catalytically inactive., [UniProtKB, PubMed]; The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 137, "disease_count": 14, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q08247;Q14404;Q8TBS1;Q9UMK1", "ec_number_list": [ { "id": "2.3.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.2", "type": "external" }, { "id": "3.4.19.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.13", "type": "external" }, { "id": "3.4.19.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.14", "type": "external" } ], "go_molecular_function": "GO:0000048 peptidyltransferase activity;GO:0002951 leukotriene-C(4) hydrolase;GO:0036374 glutathione hydrolase activity;GO:0103068 leukotriene C4 gamma-glutamyl transferase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006750 glutathione biosynthetic process;GO:0006751 glutathione catabolic process;GO:0006508 proteolysis;GO:0006536 glutamate metabolic process;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 30.7, "record_id": "P19440-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RP7-1", "uniprot_id": [ { "id": "G3ST4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RP7", "type": "external" } ], "mass": 54166.0, "length": 486, "protein_name": "Galactose-3-O-sulfotransferase 4", "gene_name": "GAL3ST4", "organism": "Human", "refseq_name": "galactose-3-O-sulfotransferase 4", "refseq_ac": [ { "id": "NP_078913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078913", "type": "external" } ], "gene_names_uniprotkb": "GAL3ST4; PP6968", "gene_names_refseq": "GAL3ST-4; GAL3ST4", "protein_names_uniprotkb": "Galactose-3-O-sulfotransferase 4; 2.8.2.-; Beta-galactose-3-O-sulfotransferase 4; Gal-beta-1,3-GalNAc 3'-sulfotransferase; Gal3ST-4", "protein_names_refseq": "beta-galactose-3-O-sulfotransferase 4; gal-beta-1,3-GalNAc 3'-sulfotransferase; galactose-3-O-sulfotransferase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:79690)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;11333265;14701868;15498874;23147795;25954032;26758079;28228285;29180661;29786170;30429286;31154438;31848261;32157095;32938616;33123756;33592498;35051231;35580925;37340703", "class_list": "glycogene", "function": "Catalyzes the transfer of a sulfate group from 3'-phosphoadenylyl sulfate (PAPS) to the C-3 hydroxyl group of terminal non-reducing beta-1,3-linked galactose residues, exclusively in O-linked glycoproteins (PubMed:11333265, PubMed:14701868). Participates in galactose sulfation and acts on core 1 (Gal-beta-1,3-GalNAc-R) structures (PubMed:11333265, PubMed:14701868). In vitro, also recognizes Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc-R, asialofetuin, the Globo H precursor and Gal-beta-1,3(6-O-sulfo)GalNAc-R structures as good substrates (PubMed:11333265, PubMed:14701868)., [UniProtKB, PubMed, PubMed]; Gal3ST-4 is a substrate for the mucin core-2 trisaccharide, [RefSeq, PubMed]; The GAL3ST4 and the CHGB allele variants 23 and 48 are novel genetic loci involved in susceptibility to leprosy among female and male population, respectively Publication Status: Online-Only, [RefSeq, PubMed]; The genetic mutation of GAL3ST4 affects the functions of the encoded protein., [RefSeq, PubMed]; This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008]., [RefSeq]; We found that loss of Gpr126 upregulated the expression of Gal3st4, a gene implicated in human PE, encoding Galactose-3-O-sulfotransferase 4, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 626, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D2A8;B4DWL8;D6W5U5;Q8N3P7;Q8WZ17;Q96E33;Q9HA78", "ec_number_list": [], "go_molecular_function": "GO:0050656 3'-phosphoadenosine 5'-phosphosulfate binding;GO:0050694 galactose 3-O-sulfotransferase activity;GO:0050698 proteoglycan sulfotransferase activity;GO:0001733 galactosylceramide sulfotransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0032580 Golgi cisterna membrane;GO:0000139 Golgi membrane", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0009101 glycoprotein biosynthetic process;GO:0009247 glycolipid biosynthetic process;GO:0009311 oligosaccharide metabolic process;GO:0006790 sulfur compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96RP7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22234-1", "uniprot_id": [ { "id": "PUR6_HUMAN", "url": "https://www.uniprot.org/uniprot/P22234", "type": "external" } ], "mass": 47079.0, "length": 425, "protein_name": "Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase", "gene_name": "PAICS", "organism": "Human", "refseq_name": "bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 2", "refseq_ac": [ { "id": "NP_001072992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072992", "type": "external" } ], "gene_names_uniprotkb": "PAICS; ADE2; AIRC; PAIS", "gene_names_refseq": "ADE2H1; ADE2; AIRC; PAICSD; PAICS; PAIS", "protein_names_uniprotkb": "Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase; AIR carboxylase; AIRC; PAICS; SAICAR synthetase", "protein_names_refseq": "AIR carboxylase; SAICAR synthetase; bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 2; bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase; multifunctional protein ADE2H1; multifunctional protein ADE2; phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase; phosphoribosylaminoimidazole carboxylase; phosphoribosylaminoimidazolesuccinocarboxamide synthase", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419); phosphoribosylaminoimidazole carboxylase deficiency (MONDO:MONDO:0859244)", "pathway": " (hsa:10606); (R-HSA-73817)", "pathway_count": 2, "publication_count": 157, "publication_id_list": "10958654;11096114;11237011;11381136;11875071;12450384;14529546;14654843;15004565;15104674;15786719;1592113;16964243;17224163;17322306;17924679;18388293;18452278;18609073;18669648;18691976;18767875;18991276;19369195;19413330;19415658;19608861;19651622;19664994;19664995;1967654;19690332;20058876;20068231;20112406;20230923;20305658;21320556;21406692;2147474;2183217;21960835;21993680;22223895;2253271;23186163;23301498;23481700;24275569;24366607;24714562;25418920;25469497;25505266;25576301;25645385;25810538;26154972;26375851;26853435;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29786170;30192525;30315122;30410026;30429286;30524438;30573663;30779550;30833945;31154438;31217245;31222486;31530632;31600779;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34171305;34173716;34185709;34323174;34357683;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35285625;35331738;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37848033;37938771;38665916;40914422;4348202;4726295;762062;7706277;7903306;8089153;8110788;8366112;8380692;8567683", "class_list": "", "function": "Bifunctional phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazole succinocarboxamide synthetase catalyzing two reactions of the de novo purine biosynthetic pathway., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Evidence Supporting Substrate Channeling between Domains of Human PAICS: A Time-Course Analysis of (13)C-Bicarbonate Incorporation., [RefSeq, PubMed]; Multienzyme interactions of the de novo purine biosynthetic protein PAICS facilitate purinosome formation and metabolic channeling., [RefSeq, PubMed]; PAICS is related to glioma grade and can promote glioma growth and migration., [RefSeq, PubMed]; PAICS ubiquitination recruits UBAP2 to trigger phase separation for purinosome assembly., [RefSeq, PubMed]; Regulating COX10-AS1 / miR-142-5p / PAICS axis inhibits the proliferation of non-small cell lung cancer., [RefSeq, PubMed]; This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PDH9;Q68CQ5", "ec_number_list": [ { "id": "4.1.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.21", "type": "external" }, { "id": "6.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.6", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0004639 phosphoribosylaminoimidazolesuccinocarboxamide synthase activity;GO:0004638 phosphoribosylaminoimidazole carboxylase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006177 GMP biosynthetic process;GO:0009113 purine nucleobase biosynthetic process;GO:0006189 'de novo' IMP biosynthetic process;GO:0044208 'de novo' AMP biosynthetic process;GO:0097294 'de novo' XMP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "P22234-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N292-1", "uniprot_id": [ { "id": "GAPT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N292", "type": "external" } ], "mass": 17883.0, "length": 157, "protein_name": "Protein GAPT", "gene_name": "GAPT", "organism": "Human", "refseq_name": "protein GAPT", "refseq_ac": [ { "id": "NP_001291357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291357", "type": "external" } ], "gene_names_uniprotkb": "GAPT; C5orf29", "gene_names_refseq": "C5orf29; GAPT", "protein_names_uniprotkb": "Protein GAPT; GRB2-binding adapter protein, transmembrane; Growth factor receptor-bound protein 2-binding adapter protein, transmembrane", "protein_names_refseq": "GRB2-binding adapter protein, transmembrane; GRB2-binding transmembrane adaptor; growth factor receptor-bound protein 2-binding adapter protein, transmembrane; protein GAPT", "tax_id": 9606, "disease": "", "pathway": " (hsa:202309)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;18559951;26992070;29557506;32387766;32502341;34357683;34509645;37217939", "class_list": "", "function": "Negatively regulates B-cell proliferation following stimulation through the B-cell receptor. May play an important role in maintenance of marginal zone (MZ) B-cells (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002322 B cell proliferation involved in immune response;GO:0001782 B cell homeostasis", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N292-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17706-1", "uniprot_id": [ { "id": "PTN2_HUMAN", "url": "https://www.uniprot.org/uniprot/P17706", "type": "external" } ], "mass": 48473.0, "length": 415, "protein_name": "Tyrosine-protein phosphatase non-receptor type 2", "gene_name": "PTPN2", "organism": "Human", "refseq_name": "tyrosine-protein phosphatase non-receptor type 2 isoform 4", "refseq_ac": [ { "id": "NP_001193942", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193942", "type": "external" } ], "gene_names_uniprotkb": "PTPN2; PTPT", "gene_names_refseq": "PTN2; PTPN2; PTPT; TC-PTP; TC45; TC48; TCELLPTP; TCPTP", "protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 2; 3.1.3.48; T-cell protein-tyrosine phosphatase; TCPTP", "protein_names_refseq": "T-cell protein tyrosine phosphatase; tyrosine-protein phosphatase non-receptor type 2 isoform 4", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155); pre-eclampsia (Disease Ontology:DOID:10591)", "pathway": " (hsa:5771); (R-HSA-6807004); (R-HSA-9008059); (R-HSA-9833482)", "pathway_count": 4, "publication_count": 215, "publication_id_list": "10082513;10348343;10400669;10620360;10626894;10648614;10734133;10848580;10866685;11096080;11134010;11145836;11152499;11156368;11237011;11238103;11238927;11278865;11313968;11337501;11350938;11438540;11500375;11741535;11781817;11839743;11894096;11907034;11909525;11909529;11939789;11985496;12096920;12138178;12231563;12244174;12359225;12381835;12397061;12475979;12551915;12612081;12686592;12809600;12882984;1373135;14585331;14966296;15030318;15123609;15229216;15299030;15527767;15592458;15609043;15696169;15737233;15752359;15828871;15907845;16113677;16179258;16179259;16227611;16373505;16431927;16595549;16600570;16717090;1695551;16982605;17079286;17178829;17196820;17210636;1731319;18096616;18390730;18669648;18819921;18835251;18957415;19109251;19229320;19416861;19710021;19733181;19804757;19838063;20068231;20395957;20519500;20685959;20935647;21072047;21123651;21294215;21406692;21518807;21636578;21937648;21978664;21994559;22080863;22214662;2247437;22986343;23006999;23084476;23186163;23208509;23229543;23732991;24275569;24347309;24481253;24623135;24659800;24715725;24753571;24828152;25418920;2546150;25576301;25653431;25729923;25848059;25880248;26432638;26446704;26488609;26716879;26817845;26992070;27060871;27208315;27269119;27423063;27846572;27974558;28069888;28092676;28167698;28281686;28765891;29170442;29175459;29231267;29348664;29351928;29394925;29395325;29440070;29501855;30174290;30770398;31031002;31844290;31937595;32093270;32157095;32357974;32502341;32716602;32801355;32938616;32983136;33298915;33808629;33911136;33912179;33968037;33981976;34019948;34174402;34974812;35051231;35132862;35561310;35580925;35685460;35947956;36497105;36712380;37127961;37938771;38379221;38652555;39028869;39320556;40596516;7491766;7515177;7545299;7565688;7593185;7693978;7737357;7903669;8576172;8576179;8661426;8810342;8910500;9034343;9079663;9361013;9442054;9488479;9521856;9528799;9687506;9737981;9819388;9920933", "class_list": "", "function": "A genome-wide association study identified PTPN2 as a population-specific susceptibility gene locus for primary biliary cholangitis., [RefSeq, PubMed]; Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus., [RefSeq, PubMed]; Non-receptor type tyrosine-specific phosphatase that dephosphorylates receptor protein tyrosine kinases including INSR, EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor protein tyrosine kinases like JAK1, JAK2, JAK3, Src family kinases, STAT1, STAT3 and STAT6 either in the nucleus or the cytoplasm. Negatively regulates numerous signaling pathways and biological processes like hematopoiesis, inflammatory response, cell proliferation and differentiation, and glucose homeostasis. Plays a multifaceted and important role in the development of the immune system. Functions in T-cell receptor signaling through dephosphorylation of FYN and LCK to control T-cells differentiation and activation. Dephosphorylates CSF1R, negatively regulating its downstream signaling and macrophage differentiation. Negatively regulates cytokine (IL2/interleukin-2 and interferon)-mediated signaling through dephosphorylation of the cytoplasmic kinases JAK1, JAK3 and their substrate STAT1, that propagate signaling downstream of the cytokine receptors. Also regulates the IL6/interleukin-6 and IL4/interleukin-4 cytokine signaling through dephosphorylation of STAT3 and STAT6 respectively. In addition to the immune system, it is involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth. Activated by the integrin ITGA1/ITGB1, it dephosphorylates EGFR and negatively regulates EGF signaling. Dephosphorylates PDGFRB and negatively regulates platelet-derived growth factor receptor-beta signaling pathway and therefore cell proliferation. Negatively regulates tumor necrosis factor-mediated signaling downstream via MAPK through SRC dephosphorylation. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of the hepatocyte growth factor receptor MET. Also plays an important role in glucose homeostasis. For instance, negatively regulates the insulin receptor signaling pathway through the dephosphorylation of INSR and control gluconeogenesis and liver glucose production through negative regulation of the IL6 signaling pathways. May also bind DNA., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PTPN2 inhibits the proliferation of psoriatic keratinocytes by dephosphorylation of STAT3., [RefSeq, PubMed]; Protein tyrosine phosphatase non-receptor type 2 (PTPN2) gene polymorphisms (rs2542151, rs7234029) in Egyptian Behcet's disease patients: a preliminary report., [RefSeq, PubMed]; Stem-Cell-Derived beta-Like Cells with a Functional PTPN2 Knockout Display Increased Immunogenicity. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K955;A8MXU3;K7ENG3;Q96AU5;Q96HR2", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0097677 STAT family protein binding;GO:0005178 integrin binding;GO:0019901 protein kinase binding;GO:0019905 syntaxin binding;GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0070104 negative regulation of interleukin-6-mediated signaling pathway;GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0010888 negative regulation of lipid storage;GO:0050922 negative regulation of chemotaxis", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "P17706-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB19-1", "uniprot_id": [ { "id": "PKHA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB19", "type": "external" } ], "mass": 47245.0, "length": 425, "protein_name": "Pleckstrin homology domain-containing family A member 2", "gene_name": "PLEKHA2", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family A member 2 isoform 1", "refseq_ac": [ { "id": "NP_067636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067636", "type": "external" } ], "gene_names_uniprotkb": "PLEKHA2; TAPP2", "gene_names_refseq": "PLEKHA2; TAPP2", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family A member 2; PH domain-containing family A member 2; TAPP-2; Tandem PH domain-containing protein 2", "protein_names_refseq": "PH domain-containing family A member 2; TAPP-2; pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2; pleckstrin homology domain-containing family A member 2 isoform 1; pleckstrin homology domain-containing family A member 2; tandem PH Domain containing protein-2; tandem PH domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:59339); (R-HSA-1660499)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;14516276;14617813;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;16154996;16399794;16476736;16522682;16914545;16979564;17008356;17245604;17651088;18093523;18220336;18669648;18753295;19038970;19786618;19896968;20534812;21204784;22037487;22647598;23186163;23460911;23519112;23758345;25218447;25495341;27920218;28218747;28228285;28832583;29242379;29393594;29508533;29632711;29786170;29789417;30315122;30429286;31848261;31937595;31998317;37938771;40914422;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity)., [UniProtKB]; These findings identify TAPP2 as a novel link between PI3K signaling and the cytoskeleton with potential relevance for leukemia progression., [RefSeq, PubMed]; This study identified TAPP2 as a novel regulator of malignant B cell migration., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K727", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0043236 laminin binding;GO:0030165 PDZ domain binding;GO:0001968 fibronectin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0001954 positive regulation of cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9HB19-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N983-1", "uniprot_id": [ { "id": "RM43_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N983", "type": "external" } ], "mass": 23431.0, "length": 215, "protein_name": "Large ribosomal subunit protein mL43", "gene_name": "MRPL43", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL43 isoform e", "refseq_ac": [ { "id": "NP_001295325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295325", "type": "external" } ], "gene_names_uniprotkb": "MRPL43", "gene_names_refseq": "L43mt; MRP-L43; MRPL43; bMRP36a; mL43", "protein_names_uniprotkb": "Large ribosomal subunit protein mL43; 39S ribosomal protein L43, mitochondrial; L43mt; MRP-L43; Mitochondrial ribosomal protein bMRP36a", "protein_names_refseq": "39S ribosomal protein L43, mitochondrial; large ribosomal subunit protein mL43 isoform e; mitochondrial large ribosomal subunit protein mL43; mitochondrial ribosomal protein bMRP36a", "tax_id": 9606, "disease": "", "pathway": " (hsa:84545); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 95, "publication_id_list": "11237011;11279069;15358359;15509589;16385451;17803939;18160138;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;22869377;23301498;23481700;24714562;25233460;25278503;25418920;25576301;25645385;25838379;26154972;26811146;26992070;27029019;27600516;27920218;28063628;28228285;28832583;28892042;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30779550;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33147064;33243891;33298915;33537174;33592498;33691108;33878294;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34561969;34932366;35051231;35177605;35580925;35659240;35765761;36010968;36241641;36284347;36302763;36596788;37141370;37938771;38665916", "class_list": "", "function": "Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene. Publication Status: Online-Only, [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; MiR-608 rs4919510 Polymorphism May Affect Susceptibility to Colorectal Cancer by Upregulating MRPL43 Expression., [RefSeq, PubMed]; Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AL06;B1AL07;B1AL09;B1AL10;C9J5Q3;D3DR71;Q5JW06;Q7Z719;Q7Z7H6;Q86XN1;Q9BYC7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:0005840 ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q8N983-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14161-1", "uniprot_id": [ { "id": "GIT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14161", "type": "external" } ], "mass": 84543.0, "length": 759, "protein_name": "ARF GTPase-activating protein GIT2", "gene_name": "GIT2", "organism": "Human", "refseq_name": "ARF GTPase-activating protein GIT2 isoform 6", "refseq_ac": [ { "id": "NP_001128685", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128685", "type": "external" } ], "gene_names_uniprotkb": "GIT2; KIAA0148", "gene_names_refseq": "CAT-2; CAT2; GIT2; PKL", "protein_names_uniprotkb": "ARF GTPase-activating protein GIT2; ARF GAP GIT2; CAT-2; CAT2; Cool-interacting tyrosine-phosphorylated protein 2; G protein-coupled receptor kinase-interactor 2; GRK-interacting protein 2", "protein_names_refseq": "ARF GAP GIT2; ARF GTPase-activating protein GIT2 isoform 6; ARF GTPase-activating protein GIT2; G protein-coupled receptor kinase interacting ArfGAP 2; G protein-coupled receptor kinase-interactor 2; GRK-interacting protein 2; Paxillin kinase linker; cool-associated, tyrosine phosphorylated protein 2; cool-interacting tyrosine-phosphorylated protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9815); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9013424)", "pathway_count": 9, "publication_count": 405, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10724160;10847683;10873802;10896954;10958683;10967094;11007481;11058585;11085924;11145705;11149925;11185749;11237011;11251077;11306516;11373293;11396949;11431473;11432776;11459829;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11919634;11948177;11956649;11961559;12071859;12093360;12096337;12172552;12195014;12221096;12242347;12351724;12432077;12456725;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;14521508;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15144186;15147912;15157669;15169870;15260990;15302923;15304341;15339924;15342493;15350535;15485661;15507211;15542837;15546864;15556869;15579468;15592455;15601624;15611138;15710388;15728722;15814684;15850391;15858067;15897194;16002401;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17060455;17064668;17077126;17081983;17145773;17158234;17196961;17214551;17244649;17269730;17355222;17504809;17583407;17599059;17698854;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18191593;18218625;18220336;18249095;18347018;18363964;18396277;18426980;18452278;18653540;18662984;18669648;18697831;18786931;18835169;18838382;18929667;19064640;19258391;19269969;19494238;19534724;19605563;19651622;19673492;19690332;19713215;19934221;20058876;20068231;20400958;20460433;20547754;20679435;20810653;21148482;21151158;21378159;21454492;21508312;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22339630;22407364;22461490;22475431;22544926;22571869;22608513;22734669;22970203;22971344;23029280;23186163;23200924;23209303;23255595;23285027;23288169;23406282;23434736;23481700;23572525;23615439;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24275569;24297911;24335996;24352656;24355937;24584464;24623723;24714562;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25418920;25428919;25576301;25678704;25704760;25721503;25795300;25862245;25963737;26016997;26129894;26154972;26299518;26529257;26598554;26598620;26628301;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27862975;27920218;28028151;28114311;28196833;28228285;28356423;28514659;28649982;28657654;28825699;28832583;28860633;28904123;29089502;29242379;29351928;29358323;29382922;29393594;29493099;29557506;29632046;29632711;29786170;30061681;30315122;30484775;30524438;30853411;31217245;31389670;31492838;31844290;31871319;32157095;32203420;32265295;32302585;32387766;32488085;32502341;32737221;32743695;32897882;32938616;32938750;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33968037;34087483;34211107;34357683;34405274;34509645;35051231;35154160;35251023;35254053;35494241;35580925;36010968;36215666;36241641;36284347;37156999;37340703;37541260;37938771;38665916;39531497;39534244;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9252344;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9705280;9778532;9792683;9822598;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "GTPase-activating protein for ADP ribosylation factor family members, including ARF1., [UniProtKB, PubMed]; Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries., [RefSeq, PubMed]; Long non-coding RNA MALAT1 promotes odontogenic differentiation of human dental pulp stem cells by impairing microRNA-140-5p-dependent downregulation of GIT2., [RefSeq, PubMed]; This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q86U59;Q96CI2;Q9BV91;Q9Y5V2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005925 focal adhesion;GO:0045202 synapse;GO:0098793 presynapse", "go_biological_process": "GO:0007420 brain development;GO:0036465 synaptic vesicle recycling;GO:0032012 regulation of ARF protein signal transduction;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 41.9, "record_id": "Q14161-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCI6-1", "uniprot_id": [ { "id": "GLBL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCI6", "type": "external" } ], "mass": 74823.0, "length": 653, "protein_name": "Beta-galactosidase-1-like protein 3", "gene_name": "GLB1L3", "organism": "Human", "refseq_name": "beta-galactosidase-1-like protein 3", "refseq_ac": [ { "id": "NP_001073876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073876", "type": "external" } ], "gene_names_uniprotkb": "GLB1L3", "gene_names_refseq": "GLB1L3", "protein_names_uniprotkb": "Beta-galactosidase-1-like protein 3; 3.2.1.23", "protein_names_refseq": "beta-galactosidase-1-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:112937); (R-HSA-2022857); (R-HSA-2024101); (R-HSA-9840310)", "pathway_count": 4, "publication_count": 121, "publication_id_list": "10191093;10196694;10339581;10406958;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11489889;11568288;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12885774;12888274;12909021;1352293;1352993;1463457;15003450;15213228;1522213;15458386;15647514;15714521;15773042;15845354;16229686;16230343;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1794986;1840600;18524657;1889421;1907800;1915858;19224584;1928092;19405096;1946389;19836391;19889881;2001789;20232353;20728381;2122463;22940367;235289;239890;2562955;2717620;28126847;28228285;29443946;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;30379171;3048308;3134052;3136930;31495489;3158659;3196333;3456607;3468507;35494241;36215666;39940;5135907;5164093;527942;5822067;7213753;738706;7504405;7628016;7730378;7744740;7852280;8213840;8281145;8370580;8399327;8573994;8591035;8663398;8804427;8889578;8955159;8985184;9217013;9223416;9338580;9520418;9521684", "class_list": "glycogene;glycosylhydrolase", "function": "Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 959, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEM0;A6NN15;Q6P3S3;Q96FF8", "ec_number_list": [ { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" } ], "go_molecular_function": "GO:0004565 beta-galactosidase activity;GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds", "go_cellular_component": "GO:0005773 vacuole", "go_biological_process": "GO:0019388 galactose catabolic process;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q8NCI6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z601-1", "uniprot_id": [ { "id": "GP142_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z601", "type": "external" } ], "mass": 51106.0, "length": 462, "protein_name": "G protein-coupled receptor 142", "gene_name": "GPR142", "organism": "Human", "refseq_name": "G protein-coupled receptor 142 isoform b", "refseq_ac": [ { "id": "NP_001318005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001318005", "type": "external" } ], "gene_names_uniprotkb": "GPR142; GPRG1B; PGR2", "gene_names_refseq": "GPR142; GPRg1b; PGR2", "protein_names_uniprotkb": "G protein-coupled receptor 142; G protein-coupled receptor PGR2", "protein_names_refseq": "G protein-coupled receptor 142 isoform b; G-protein coupled receptor 142 long form; G-protein coupled receptor PGR2; probable G-protein coupled receptor 142", "tax_id": 9606, "disease": "", "pathway": " (hsa:350383)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12679517;14623098;15845401;27104960;27322810;27807998;29557506;30472415;35051231", "class_list": "", "function": "E developed GPR142 agonists as insulin secretagogues. In this report, we show the discovery of a selective, potent small-molecule GPR142 antagonist, CLP-3094, and its pharmacological characteristics. These data support targeting this receptor for the treatment of chronic inflammatory diseases., [RefSeq, PubMed]; GPR142 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]., [RefSeq]; Highly selective G protein-coupled receptor for aromatic amino acids specifically L-Tryptophan (L-Trp) and L-Phenylalanine (L-Phe), with L-Trp being the most potent and efficacious agonist (PubMed:27104960, PubMed:27322810). GPR142 agonists triggers the activation of both GNAQ/G(q) and GNAI1/G(i)-coupled signaling pathways (PubMed:27104960). L-Trp stimulates glucose-induced insulin secretion and triggers G(q)-mediated signaling (By similarity). GPR142 appears to have a role as a sensor of aromatic essential amino acids controlling the secretion of both insulin in the pancreas and other gastrointestinal hormones including glucagon but also CCK and incretin in the gastrointestinal-tract, contributing to the control of glucose homeostasis by coordinating pancreatic and gut hormone secretion (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4CYJ8;J3QSD0;Q86SL3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0042593 glucose homeostasis;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q7Z601-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZ52-1", "uniprot_id": [ { "id": "GGA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZ52", "type": "external" } ], "mass": 78315.0, "length": 723, "protein_name": "ADP-ribosylation factor-binding protein GGA3", "gene_name": "GGA3", "organism": "Human", "refseq_name": "ADP-ribosylation factor-binding protein GGA3 isoform 1", "refseq_ac": [ { "id": "NP_001166174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166174", "type": "external" } ], "gene_names_uniprotkb": "GGA3; KIAA0154", "gene_names_refseq": "GGA3", "protein_names_uniprotkb": "ADP-ribosylation factor-binding protein GGA3; Golgi-localized, gamma ear-containing, ARF-binding protein 3", "protein_names_refseq": "ADP-ribosylation factor-binding protein GGA3 isoform 1; ADP-ribosylation factor-binding protein GGA3; Golgi-localized, gamma ear-containing, ARF-binding protein 3", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); lysosomal storage disease (Disease Ontology:DOID:3211)", "pathway": " (hsa:23163); (R-HSA-8854214); (R-HSA-8875656); (R-HSA-977225)", "pathway_count": 4, "publication_count": 171, "publication_id_list": "10097139;10202141;10319874;10391242;10411933;10583407;10747089;10749927;10814529;10956649;11237011;11278841;11301005;11387475;11401442;11467836;11590439;118839;11950392;12032548;12060753;12213833;12454989;12505986;1270801;14506261;14567678;14638859;14660606;14665628;15039775;15064394;15143060;15615712;15962837;16055087;16135791;16174740;16395330;16799559;16959974;17425515;17553422;17658474;17901050;18065497;18070888;18199687;18319245;1837051;18449172;18452278;18466115;18484335;1849145;19011241;19658395;19828817;20095038;20112406;20116244;20363736;20404108;20484053;20676056;20807650;2118650;21383079;21458671;21664574;2195544;22065755;22131221;22219378;22544926;22613832;22762500;22795129;22854040;23019362;23301498;23481700;23562278;23813966;2409350;24275569;24366607;24833601;24893886;25523424;25880248;25892735;26018760;26417681;26446845;26477546;26668317;26686862;26807092;26811329;26992070;27090790;27862975;27920218;279930;28063628;28228285;28467828;28657654;28832583;28834231;2900981;29242379;29351928;29393594;29508533;29557506;29632046;29632711;29769354;30315122;3035556;30524438;3053705;3080684;3094007;31154438;3142462;31530632;31844290;31848261;31998317;32157095;32161166;32334026;32350084;32357974;32387766;32502341;32897882;32938616;33206455;33298915;33592498;33633747;33717175;33912179;33968037;33981976;34019948;34171305;34357683;35051231;35154160;35580925;36010968;36284347;36581221;3675579;37141437;38665916;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9862427", "class_list": "", "function": "Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?, [RefSeq, PubMed]; GGA3 interacts with L-type prostaglandin D synthase and regulates the recycling and signaling of the DP1 receptor for prostaglandin D2 in a Rab4-dependent mechanism., [RefSeq, PubMed]; Inactivation of the three GGA genes in HeLa cells partially compromises lysosomal enzyme sorting., [RefSeq, PubMed]; Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:11301005). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:26811329). nvolved in BACE1 transport and sorting as well as regulation of BACE1 protein levels (PubMed:15615712, PubMed:17553422, PubMed:20484053). Regulates retrograde transport of BACE1 from endosomes to the trans-Golgi network via interaction through the VHS motif and dependent of BACE1 phosphorylation (PubMed:15615712). Modulates BACE1 protein levels independently of the interaction between VHS domain and DXXLL motif through recognition of ubiquitination (PubMed:20484053). Key player in a novel DXXLL-mediated endosomal sorting machinery to the recycling pathway that targets NTRK1 to the plasma membrane (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B7Z7E2;B7Z7M9;J3KRN0;Q15017;Q6IS16;Q9UJY3", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0031267 small GTPase binding;GO:0035091 phosphatidylinositol binding;GO:0043130 ubiquitin binding;GO:0140318 protein transporter activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005764 lysosome;GO:0031901 early endosome membrane;GO:0055038 recycling endosome membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:1905167 positive regulation of lysosomal protein catabolic process;GO:0006886 intracellular protein transport;GO:1902430 negative regulation of amyloid-beta formation;GO:0031647 regulation of protein stability;GO:0043001 Golgi to plasma membrane protein transport", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "Q9NZ52-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48169-1", "uniprot_id": [ { "id": "GBRA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P48169", "type": "external" } ], "mass": 61623.0, "length": 554, "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-4", "gene_name": "GABRA4", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000800", "type": "external" } ], "gene_names_uniprotkb": "GABRA4", "gene_names_refseq": "GABRA4", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit alpha-4; GABA(A) receptor subunit alpha-4; GABAAR subunit alpha-4", "protein_names_refseq": "GABA(A) receptor, alpha 4; GABAAR subunit alpha-4; gamma-aminobutyric acid (GABA) A receptor, alpha 4; gamma-aminobutyric acid A receptor alpha 4; gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor; gamma-aminobutyric acid receptor subunit alpha-4; gamma-aminobutyric acid type A receptor alpha4 subunit", "tax_id": 9606, "disease": "autistic disorder (Disease Ontology:DOID:12849)", "pathway": " (hsa:2557); (R-HSA-977443)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10449790;10542332;11237011;1315307;1321750;15024690;1664410;16959974;17364682;17398006;17693683;18382465;1849271;19828786;2465923;27846572;2847710;29242379;29393594;29557506;29632046;31844290;32028044;32387766;33592498;35051231;35152403;35355020;38565639;7607683;8264558;8382267;8391122;8632757;8719414;8719416", "class_list": "", "function": "A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype., [RefSeq, PubMed]; Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (PubMed:35355020). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:35355020). GABAARs containing alpha-4 are predominantly extrasynaptic, contributing to tonic inhibition in dentate granule cells and thalamic relay neurons (By similarity). Extrasynaptic alpha-4-containing GABAARs control levels of excitability and network activity (By similarity). GABAAR containing alpha-4-beta-3-delta subunits can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness (PubMed:35355020)., [UniProtKB, UniProtKB, PubMed]; De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy., [RefSeq, PubMed]; Further evidence of GABRA4 and TOP3B as autism susceptibility genes., [RefSeq, PubMed]; Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8IYR7", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0004890 GABA-A receptor activity;GO:0008503 benzodiazepine receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0098794 postsynapse;GO:0034707 chloride channel complex;GO:0032590 dendrite membrane", "go_biological_process": "GO:0007214 gamma-aminobutyric acid signaling pathway;GO:0032229 negative regulation of synaptic transmission, GABAergic;GO:1902476 chloride transmembrane transport;GO:0051932 synaptic transmission, GABAergic;GO:1904862 inhibitory synapse assembly", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P48169-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95249-1", "uniprot_id": [ { "id": "GOSR1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95249", "type": "external" } ], "mass": 28613.0, "length": 250, "protein_name": "Golgi SNAP receptor complex member 1", "gene_name": "GOSR1", "organism": "Human", "refseq_name": "Golgi SNAP receptor complex member 1 isoform 3", "refseq_ac": [ { "id": "NP_001007025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007025", "type": "external" } ], "gene_names_uniprotkb": "GOSR1; GS28", "gene_names_refseq": "GOLIM2; GOS-28; GOS28/P28; GOS28; GOSR1; GS28; P28", "protein_names_uniprotkb": "Golgi SNAP receptor complex member 1; 28 kDa Golgi SNARE protein; 28 kDa cis-Golgi SNARE p28; GOS-28", "protein_names_refseq": "28 kDa Golgi SNARE protein; 28 kDa cis-Golgi SNARE p28; Golgi SNAP receptor complex member 1 isoform 3; Golgi SNARE 28 kDa; cis-golgi SNARE; golgi integral membrane protein 2", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:9527); (R-HSA-6807878); (R-HSA-6811438)", "pathway_count": 3, "publication_count": 209, "publication_id_list": "10052452;10189370;10198168;10318838;10445031;10559959;10652308;10652516;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11689559;11703931;11718716;11726511;11748249;12011112;12047556;12070132;12383348;12388752;12429822;12634853;14654841;14742712;15037235;15215310;15504911;15616190;15632110;15718469;15728195;15758030;15813748;15878873;16030262;1631136;16633337;16723730;1680566;16912714;16926190;16940185;17253781;17274796;17274799;17337506;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18182008;18256213;18283113;18451304;18524849;18809720;1898986;19015319;19109418;19164740;19296914;19536132;1957170;19608861;19631211;19715559;19758564;20163571;20357002;20427317;20637885;20874812;21219331;21669198;21689688;21807881;21844168;21860593;22013193;22094269;22188167;22223895;22304919;22397410;23091056;23186163;23239882;23378023;23387339;23462996;23481700;23839779;23936529;23940353;24119662;24366607;24397554;24715725;24806965;25436559;25492864;25502872;25576301;25708460;25892735;26154972;26375851;26811146;26992070;27611086;27920218;28063628;28228285;28514659;28638266;28832583;28904123;29242379;29314611;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30779550;30833945;31020640;31154438;31217245;31530632;31844290;31937595;31998317;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34211107;34357683;34433824;34509645;35051231;35154160;35561310;35580925;36010968;36215666;36241641;36284347;36924089;37217939;37938771;7691276;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8945478;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9653114;9653160;9671725;9707577;9751720;9915833;9990005", "class_list": "", "function": "Diverse Role of SNARE Protein GS28 in Vesicle Trafficking and Diseases. Review article, [RefSeq, PubMed]; GS28 may potentiate cells to DNA-damage-induced apoptosis by inhibiting the ubiquitination and degradation of p53., [RefSeq, PubMed]; Golgi vesicles, presumably with COPI, serve to inhibit intra-Golgi transport by the extraction of GS27 and GS28 from the Golgi cisternae, which blocks the formation of inter-cisternal connections, [RefSeq, PubMed]; High nuclear expression of GS28 is associated with poor prognosis in early-stage cervical cancer patients. GS28 might be a novel prognostic marker and a potential therapeutic target in cervical cancer treatment. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; These results indicate that GS28 nuclear predominant expression could serve as a prognostic marker for colorectal cancer (CRC) and may help in identifying aggressive forms of CRC Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "J3KST5;O75392", "ec_number_list": [], "go_molecular_function": "GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0030133 transport vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0042147 retrograde transport, endosome to Golgi;GO:0006906 vesicle fusion;GO:0006891 intra-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 21.2, "record_id": "O95249-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIC8-1", "uniprot_id": [ { "id": "LCMT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIC8", "type": "external" } ], "mass": 38379.0, "length": 334, "protein_name": "Leucine carboxyl methyltransferase 1", "gene_name": "LCMT1", "organism": "Human", "refseq_name": "leucine carboxyl methyltransferase 1 isoform b", "refseq_ac": [ { "id": "NP_001027563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027563", "type": "external" } ], "gene_names_uniprotkb": "LCMT1; CGI-68; LCMT", "gene_names_refseq": "CGI-68; LCMT1; LCMT; PPMT1", "protein_names_uniprotkb": "Leucine carboxyl methyltransferase 1; 2.1.1.233; Protein-leucine O-methyltransferase; [Phosphatase 2A protein]-leucine-carboxy methyltransferase 1", "protein_names_refseq": "[Phosphatase 2A protein]-leucine-carboxy methyltransferase 1; leucine carboxyl methyltransferase 1 isoform b; protein phosphatase methyltransferase 1; protein-leucine O-methyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:51451); (R-HSA-69273)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10393926;10395539;10600115;10652300;10827953;11063929;11237011;11238451;11313932;11897663;11907280;12411508;12754270;1384126;15024056;15456846;15572030;16582612;1717476;17533373;17724024;1828290;18285455;1836978;18384749;18394995;19160488;19192479;20360007;21206058;21292165;21813648;21900495;22443683;22732552;23242214;23481700;23943618;25418920;25839665;26992070;27810903;28228285;28832583;28834231;29154753;29242379;29393594;29493099;29632046;30429286;31092671;31844290;32161166;32387766;32488085;32897882;33402344;33691108;33771996;33968037;33981976;34087483;34171305;34185709;34932366;35051231;35561310;35580925;37644036;37938771;7737117;7743995;7799941;8119945;8428596;8440392;9268380;9670027;9679058", "class_list": "", "function": "Alterations in the membrane localization of PP2A and Tau following down-regulation of LCMT1 may lead to PP2A and Tau dysfunction in AD., [RefSeq, PubMed]; Data indicate that PP2A holoenzyme biogenesis and activity are controlled by five PP2A modulators, consisting of alpha4, PTPA, LCMT1, PME-1 and TIPRL1, which serve to prevent promiscuous phosphatase activity until the holoenzyme is completely assembled. Review article, [RefSeq, PubMed]; Determined crystal structures of human LCMT-1 in isolation and in complex with PP2A stabilized by a cofactor mimic. The structures show that the LCMT-1 active-site pocket recognizes the carboxyl terminus of PP2A, [RefSeq, PubMed]; GSK-3beta can inhibit PP2A by increasing the inhibitory L309-demethylation involving upregulation of PME-1 and inhibition of PPMT1, [RefSeq, PubMed]; LCMT-1 is important for normal progression through mitosis and cell survival and is essential for embryonic development, [RefSeq, PubMed]; LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM, Mar 2008]., [RefSeq]; LCMT1-PME-1 methylation equilibrium is critical for regulating mitotic spindle size and thereby proper cell division, [RefSeq, PubMed]; Loss of LCMT1 and biased protein phosphatase 2A heterotrimerization drive prostate cancer progression and therapy resistance. Publication Status: Online-Only, [RefSeq, PubMed]; Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; We demonstrate that NNMT outcompetes leucine carboxyl methyl transferase 1 (LCMT1) for methyl transfer from principal methyl donor SAM in biological systems. Inhibiting NNMT increased the availability of methyl groups for LCMT1 to methylate PP2A, resulting in the inhibition of oncogenic serine/threonine kinases (STK)., [RefSeq, PubMed]; X-ray crystal structure of human LCMT1 protein in complex with the cofactor S-adenosylmethionine (AdoMet) has been solved to a resolution of 2 A., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NL89;A8K770;Q53FC5;Q96CI5;Q9H6I9;Q9NTG4;Q9Y378", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.1.1.233", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.233", "type": "external" } ], "go_molecular_function": "GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0003880 protein C-terminal carboxyl O-methyltransferase activity;GO:0018423 protein C-terminal leucine carboxyl O-methyltransferase activity;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0036211 protein modification process;GO:0000086 G2/M transition of mitotic cell cycle;GO:0031333 negative regulation of protein-containing complex assembly;GO:0042981 regulation of apoptotic process;GO:0006479 protein methylation", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9UIC8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3Q3-1", "uniprot_id": [ { "id": "G3ST2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3Q3", "type": "external" } ], "mass": 46110.0, "length": 398, "protein_name": "Galactose-3-O-sulfotransferase 2", "gene_name": "GAL3ST2", "organism": "Human", "refseq_name": "galactose-3-O-sulfotransferase 2", "refseq_ac": [ { "id": "NP_071417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071417", "type": "external" } ], "gene_names_uniprotkb": "GAL3ST2; GP3ST", "gene_names_refseq": "GAL3ST-2; GAL3ST2; GP3ST", "protein_names_uniprotkb": "Galactose-3-O-sulfotransferase 2; 2.8.2.-; Beta-galactose-3-O-sulfotransferase 2; Gal-beta-1, 3-GalNAc 3'-sulfotransferase 2; Gal3ST-2; Glycoprotein beta-Gal 3'-sulfotransferase 2", "protein_names_refseq": "beta-galactose-3-O-sulfotransferase 2; gal 3-O-sulphotransferase; gal-beta-1, 3-GalNAc 3'-sulfotransferase 2; galactose-3-O-sulfotransferase 2; galbeta1-3GalNAc 3'-sulfotransferase 2; glycoprotein beta-Gal 3'-sulfotransferase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64090)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11029462;14701868;15921657;15926885;25532485;27322736;28218747;28904123;33298915;37074911", "class_list": "glycogene", "function": "Catalyzes the transfer of a sulfate group from 3'-phosphoadenylyl sulfate (PAPS) to the C-3 hydroxyl group of terminal non-reducing beta-galactosyl residues (PubMed:11029462, PubMed:14701868, PubMed:15926885). Acts both on type 1 (Gal-beta-1,3-GlcNAc-R) and type 2 (Gal-beta-1,4-GlcNAc-R) chains with similar efficiency (PubMed:11029462, PubMed:14701868, PubMed:15926885). Displays species-dependent substrate specificity (PubMed:15926885). Participates in galactose sulfation and shows substrate preference for structures such as lactose, lacto-N-tetraose (Lc4), lacto-N-neotetraose (nLc4), the Gal-beta-1,4-GlcNAc-beta unit in mucin core-2, and the cancer antigen Globo H precursor Gal-beta-1,3-GlcNAc-beta-1,3-Gal-R (PubMed:11029462, PubMed:14701868, PubMed:15926885)., [UniProtKB, PubMed, PubMed, PubMed]; D2HGDH-GAL3ST2 is more frequently seen in prostate cancer samples, and seems to be enriched in African Americans., [RefSeq, PubMed]; GAL3ST2 is present in breast cancer cell lines and is more strongly expressed in more metastatic tumors., [RefSeq, PubMed]; Gal3ST-2 is involved in tumor metastasis process by regulation of adhesion ability to selectins and expression of integrin alphaV but not beta3, [RefSeq, PubMed]; The substrate specificity and cofactor requirements of human, porcine, and murine GAL3ST are reported, [RefSeq, PubMed]; This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 628, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q17RK0;Q57Z52", "ec_number_list": [], "go_molecular_function": "GO:0050694 galactose 3-O-sulfotransferase activity;GO:0001733 galactosylceramide sulfotransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0032580 Golgi cisterna membrane;GO:0000139 Golgi membrane", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0009247 glycolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9H3Q3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18507-2", "uniprot_id": [ { "id": "GBRG2_HUMAN", "url": "https://www.uniprot.org/uniprot/P18507", "type": "external" } ], "mass": 55186.0, "length": 475, "protein_name": "Gamma-aminobutyric acid receptor subunit gamma-2", "gene_name": "GABRG2", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit gamma-2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_000807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000807", "type": "external" } ], "gene_names_uniprotkb": "GABRG2", "gene_names_refseq": "CAE2; DEE74; ECA2; EIEE74; FEB8; GABRG2; GEFSP3", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit gamma-2; GABA(A) receptor subunit gamma-2; GABAAR subunit gamma-2", "protein_names_refseq": "GABA(A) receptor subunit gamma-2; GABA(A) receptor, gamma 2; GABAAR subunit gamma-2; gamma-aminobutyric acid (GABA) A receptor, gamma 2; gamma-aminobutyric acid receptor subunit gamma-2 isoform 2 precursor; gamma-aminobutyric acid receptor subunit gamma-2; gamma-aminobutyric acid type A receptor gamma2 subunit", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); familial febrile seizures 8 (Disease Ontology:DOID:0111298); developmental and epileptic encephalopathy 74 (Disease Ontology:DOID:0112210); hepatic encephalopathy (Disease Ontology:DOID:13413); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); childhood absence epilepsy (Disease Ontology:DOID:1825); epilepsy (Disease Ontology:DOID:1826); amphetamine abuse (Disease Ontology:DOID:670); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:2566); (R-HSA-1236394); (R-HSA-977443)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "10449790;10542332;10867024;11326274;11326275;11328646;1315307;1321150;1321750;14993607;15024690;16412217;1664410;16924025;17364682;17398006;17545517;17875639;18382465;1849271;18721752;19828786;20485450;21714819;23708187;23909897;2465923;2538761;25418920;25489750;27864268;27864847;2847710;29950725;30602789;37703949;37938771;38176934;38357846;7565730;7929212;8264558;8382267;8391122;8617750;8632757;8719414;8719416;9135143;9168115;9275162;9556621;9892355", "class_list": "", "function": "Association between GABRG2 Gene Single Nucleotide Polymorphisms and Susceptibility to Ischemic Stroke in a Chinese Population., [RefSeq, PubMed]; Differential inflammation responses determine the variable phenotypes of epilepsy induced by GABRG2 mutations., [RefSeq, PubMed]; Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human., [RefSeq, PubMed]; Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:16412217, PubMed:23909897, PubMed:2538761, PubMed:25489750, PubMed:27864268, PubMed:29950725, PubMed:30602789). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (PubMed:29950725, PubMed:30602789). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:14993607, PubMed:16412217, PubMed:2538761, PubMed:27864268, PubMed:29950725, PubMed:30602789). Gamma-2/GABRG2-containing GABAARs are found at both synaptic and extrasynaptic sites (By similarity). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (By similarity). GABAARs containing alpha-1 and beta-2 or -3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation (PubMed:23909897, PubMed:25489750). Extrasynaptic gamma-2-containing receptors contribute to the tonic GABAergic inhibition (By similarity). GABAARs function also as histamine receptor where histamine binds at the interface of two neighboring beta subunits and potentiates GABA response in a gamma-2 subunit-controlled manner (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "F5HB82;Q6GRL6;Q6PCC3;Q9UDB3;Q9UN15", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0005254 chloride channel activity;GO:0004890 GABA-A receptor activity;GO:0008503 benzodiazepine receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0030424 axon;GO:0043197 dendritic spine;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0007214 gamma-aminobutyric acid signaling pathway;GO:0032229 negative regulation of synaptic transmission, GABAergic;GO:1902476 chloride transmembrane transport;GO:0071420 cellular response to histamine;GO:0051932 synaptic transmission, GABAergic", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "P18507-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWP7-1", "uniprot_id": [ { "id": "LCLT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWP7", "type": "external" } ], "mass": 48920.0, "length": 414, "protein_name": "Lysocardiolipin acyltransferase 1", "gene_name": "LCLAT1", "organism": "Human", "refseq_name": "lysocardiolipin acyltransferase 1 isoform 2", "refseq_ac": [ { "id": "NP_001002257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002257", "type": "external" } ], "gene_names_uniprotkb": "LCLAT1; AGPAT8; ALCAT1; LYCAT; PRO3579", "gene_names_refseq": "1AGPAT8; AGPAT8; ALCAT1; HSRG1849; LCLAT1; LPLAT6; LYCAT; UNQ1849", "protein_names_uniprotkb": "Lysocardiolipin acyltransferase 1; 1-AGP acyltransferase 8; 1-AGPAT 8; 1-acylglycerol-3-phosphate O-acyltransferase 8; 2.3.1.-; 2.3.1.51; Acyl-CoA:lysocardiolipin acyltransferase 1", "protein_names_refseq": "1-AGP acyltransferase 8; 1-AGPAT 8; 1-acylglycerol-3-phosphate O-acyltransferase 8; 1ysophospholipid acyltransferase 6; acyl-CoA:lysocardiolipin acyltransferase 1; lysocardiolipin acyltransferase 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:253558); (R-HSA-1482798); (R-HSA-1483166)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "10092647;10336645;10455175;10506173;10553003;10681567;11031251;11112443;11237011;11788596;11830583;12063250;12161451;12359733;12522102;12963729;12975309;14551214;14573790;15152008;15367102;16460752;16495223;16620771;16704971;16864775;17028579;17082194;17170135;17707131;18238778;18718904;19075029;19336658;19416660;19608861;19666841;19737925;20705608;21173190;22777291;22922100;23176821;23176823;23481700;23807634;24966474;25418920;25880248;26711011;26992070;28218747;28510447;28751023;28904123;2925608;29437277;29557506;29632046;30315122;30410026;30429286;31844290;32157095;32265295;32357974;32732285;32897882;32983136;33298915;33392160;33537174;33691108;33912179;33936100;33981976;34185709;3458202;35051231;35561310;36284347;36602957;38200543;38665916;7060561;7821823;8083230;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9417066;9461603;9487141;9582313", "class_list": "", "function": "ALCAT1-mediated abnormal cardiolipin remodelling promotes mitochondrial injury in podocytes in diabetic kidney disease. Publication Status: Online-Only, [RefSeq, PubMed]; Exhibits acyl-CoA:lysocardiolipin acyltransferase (ALCAT) activity; catalyzes the reacylation of lyso-cardiolipin to cardiolipin (CL), a key step in CL remodeling (By similarity). Recognizes both monolysocardiolipin and dilysocardiolipin as substrates with a preference for linoleoyl-CoA and oleoyl-CoA as acyl donors (By similarity). Also exhibits 1-acyl-sn-glycerol-3-phosphate acyltransferase activity (AGPAT) activity; converts 1-acyl-sn-glycerol-3- phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3- phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:16620771). Possesses both lysophosphatidylinositol acyltransferase (LPIAT) and lysophosphatidylglycerol acyltransferase (LPGAT) activities (PubMed:19075029). Required for establishment of the hematopoietic and endothelial lineages (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; LYCAT regulates TGF-beta mediated lung fibroblast differentiation in pulmonary fibrosis., [RefSeq, PubMed]; Long non-coding RNA DNMBP-AS1 promotes prostate cancer development by regulating LCLAT1., [RefSeq, PubMed]; Lysocardiolipin acyltransferase regulates NSCLC cell proliferation and migration by modulating mitochondrial dynamics., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6H8Z7;Q8N1Q7", "ec_number_list": [ { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.121", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.121", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.n6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n6", "type": "external" }, { "id": "2.3.1.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n7", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "2.3.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.22", "type": "external" }, { "id": "2.3.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.62", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" } ], "go_molecular_function": "GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0016746 acyltransferase activity;GO:0008374 O-acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006654 phosphatidic acid biosynthetic process;GO:0035965 cardiolipin acyl-chain remodeling;GO:0016024 CDP-diacylglycerol biosynthetic process;GO:0036149 phosphatidylinositol acyl-chain remodeling", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q6UWP7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60478-1", "uniprot_id": [ { "id": "G137B_HUMAN", "url": "https://www.uniprot.org/uniprot/O60478", "type": "external" } ], "mass": 45599.0, "length": 399, "protein_name": "Integral membrane protein GPR137B", "gene_name": "GPR137B", "organism": "Human", "refseq_name": "integral membrane protein GPR137B", "refseq_ac": [ { "id": "NP_003263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003263", "type": "external" } ], "gene_names_uniprotkb": "GPR137B; TM7SF1", "gene_names_refseq": "GPR137B; TM7SF1", "protein_names_uniprotkb": "Integral membrane protein GPR137B; Transmembrane 7 superfamily member 1 protein", "protein_names_refseq": "integral membrane protein GPR137B; transmembrane 7 superfamily member 1 (upregulated in kidney); transmembrane 7 superfamily member 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7107)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;19531498;22729905;25892735;27846572;27920218;29769354;31036939;31154438;31844290;31998317;32157095;32350084;32983136;33912179;33968037;34357683;9521871", "class_list": "", "function": "Also acts as a negative regulator of osteoclast activity (By similarity). Involved in interleukin-4-induced M2 macrophage polarization (By similarity)., [UniProtKB, UniProtKB]; Lysosomal integral membrane protein that regulates the localization and activity of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:31036939). Interacts with Rag GTPases and increases the lysosomal localization and activity of Rag GTPases and thereby regulates mTORC1 translocation and activity in lysosome (PubMed:31036939). Involved in the regulation of lysosomal morphology and autophagy (PubMed:31036939)., [UniProtKB, PubMed]; PR137B-knockout cells exhibited defective autophagy and an expanded lysosome compartment, similar to Rag-knockout cells. Like zebrafish RagA mutants, GPR137B-mutant zebrafish had upregulated TFEB target gene expression and an expanded lysosome compartment in microglia., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q53EK7;Q5TAE6;Q6FHI3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0010506 regulation of autophagy;GO:0043087 regulation of GTPase activity;GO:0006914 autophagy;GO:0045671 negative regulation of osteoclast differentiation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "O60478-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31150-1", "uniprot_id": [ { "id": "GDIA_HUMAN", "url": "https://www.uniprot.org/uniprot/P31150", "type": "external" } ], "mass": 50583.0, "length": 447, "protein_name": "Rab GDP dissociation inhibitor alpha", "gene_name": "GDI1", "organism": "Human", "refseq_name": "rab GDP dissociation inhibitor alpha", "refseq_ac": [ { "id": "NP_001484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001484", "type": "external" } ], "gene_names_uniprotkb": "GDI1; GDIL; OPHN2; RABGDIA; XAP4", "gene_names_refseq": "1A; GDI1; GDIL; MRX41; MRX48; OPHN2; RABGD1A; RABGDIA; XAP-4; XLID41", "protein_names_uniprotkb": "Rab GDP dissociation inhibitor alpha; GDI-1; Guanosine diphosphate dissociation inhibitor 1; Oligophrenin-2; Protein XAP-4; Rab GDI alpha", "protein_names_refseq": "GDI-1; guanosine diphosphate dissociation inhibitor 1; oligophrenin-2; protein XAP-4; rab GDI alpha; rab GDP dissociation inhibitor alpha; rab GDP-dissociation inhibitor, alpha; testis secretory sperm-binding protein Li 208a", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); non-syndromic X-linked intellectual disability 41 (Disease Ontology:DOID:0112058); cancer (Disease Ontology:DOID:162); psychotic disorder (Disease Ontology:DOID:2468)", "pathway": " (hsa:2664); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 274, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11516400;11689439;11703925;11746448;11784320;11809807;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12777533;1286667;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;18452278;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19570034;19620288;19656848;19725050;19729655;19745841;20008558;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22299025;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23301498;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23678941;23684622;23713133;23815289;23839779;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25469497;25472813;25576301;25645385;25648148;25713415;25810538;25892735;25925668;26055712;26154972;26177209;26245486;26375851;26434594;26538022;26811146;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27397612;27600516;27846572;27862975;27920218;28467828;28514659;28832583;28834231;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30429286;30484775;30573663;30779550;31154438;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33298915;33592498;33691108;33717175;33912179;33968037;34087483;34171305;34229054;34357683;34405274;34509645;34515625;34725712;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38013121;38665916;40914422;7543319;7585614;7688123;7849400;7911226;8144603;8408203;8522602;8733135;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9620768;9668174;9733780", "class_list": "", "function": "GDP dissociation inhibitor 1 (GDI1) attenuates beta-amyloid-induced neurotoxicity in Alzheimer's diseases., [RefSeq, PubMed]; GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]., [RefSeq]; Overexpression of GDP dissociation inhibitor 1 gene associates with the invasiveness and poor outcomes of colorectal cancer., [RefSeq, PubMed]; Regulates the GDP/GTP exchange reaction of most RAB proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP., [UniProtKB, UniProtKB]; Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P50394;Q6FG50;Q7Z2G6;Q7Z2G9;Q7Z2H5;Q7Z2I6", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding;GO:0005093 Rab GDP-dissociation inhibitor activity;GO:0005092 GDP-dissociation inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0030424 axon", "go_biological_process": "GO:0034123 positive regulation of toll-like receptor signaling pathway;GO:0007165 signal transduction;GO:0015031 protein transport;GO:0051592 response to calcium ion;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "P31150-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C091-1", "uniprot_id": [ { "id": "GRB1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C091", "type": "external" } ], "mass": 214354.0, "length": 1923, "protein_name": "GREB1-like protein", "gene_name": "GREB1L", "organism": "Human", "refseq_name": "GREB1-like protein isoform 2", "refseq_ac": [ { "id": "NP_001136438", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136438", "type": "external" } ], "gene_names_uniprotkb": "GREB1L; C18orf6; KIAA1772", "gene_names_refseq": "C18orf6; DFNA80; GREB1L; KIAA1772; RHDA3", "protein_names_uniprotkb": "GREB1-like protein; Growth regulation by estrogen in breast cancer 1-like protein", "protein_names_refseq": "GREB1-like protein isoform 2; GREB1-like protein; growth regulation by estrogen in breast cancer 1 like; growth regulation by estrogen in breast cancer 1-like protein; growth regulation by estrogen in breast cancer-like", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 80 (Disease Ontology:DOID:0070602); renal agenesis (Disease Ontology:DOID:14766); renal hypodysplasia/aplasia 3 (MONDO:MONDO:0024520)", "pathway": " (hsa:80000)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;18452278;25576301;25645385;26154972;26992070;27600516;28739660;29100090;29100091;29557506;29955957;30484775;31217245;32387766;32585897;32938616;33298915;33592498;33968037;33981976;34019948;34087483;34509645;35051231;35580925;36241641;36357908;36371238;37124138;37964281;38285371;38410081", "class_list": "", "function": "A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana. Publication Status: Online-Only, [RefSeq, PubMed]; A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3. Publication Status: Online-Only, [RefSeq, PubMed]; GREB1L overexpression is associated with good clinical outcomes in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a major role in early metanephros and genital development., [UniProtKB, PubMed]; Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Kuster-Hauser syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease., [RefSeq, PubMed]; Whole exome sequencing reveals two novel mutations in GREB1L in two Chinese families with renal agenesis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4QN17;Q9H8F1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0001822 kidney development;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9C091-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5D6-1", "uniprot_id": [ { "id": "GBGT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5D6", "type": "external" } ], "mass": 40127.0, "length": 347, "protein_name": "Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1", "gene_name": "GBGT1", "organism": "Human", "refseq_name": "globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 2", "refseq_ac": [ { "id": "NP_001269558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269558", "type": "external" } ], "gene_names_uniprotkb": "GBGT1; PRO6002", "gene_names_refseq": "A3GALNT; FS; GBGT1; UNQ2513", "protein_names_uniprotkb": "Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1; 2.4.1.-; Forssman glycolipid synthase-like protein", "protein_names_refseq": "Forssman blood group; Forssman glycolipid synthetase (FS); forssman glycolipid synthase-like protein; globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26301)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10506200;11237011;12975309;17924679;23255552;25294702;25645385;25892735;26992070;28832583;29242379;29632046;29769354;29898878;30277576;30429286;30779550;31611695;31848261;32387766;33123756;34185709;34509645;35251023;35580925", "class_list": "glycogene;glycosyltransferase", "function": "An amino acid substitution at codon 69 from methionine to threonine or serine (Met69Thr/Ser) modified enzymatic specificity of Blood group A/B glycosyltransferases and permitted FORS1 biosynthesis, [RefSeq, PubMed]; Extended the knowledge of GBGT1 variants, allele frequencies, and the characteristics of naturally occurring antibodies in our newest carbohydrate blood group system, FORS. The finding of c.363C>A-homozygous donors indicates that GBGT1 is dispensable., [RefSeq, PubMed]; GBGT1 expression is epigenetically silenced through promoter hypermethylation in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Has lost the ability to synthesize Forssman glycolipid antigen (FORS1/FG) (PubMed:10506200). Might have acquired an alternative function in glycosphingolipid metabolism, but it remains to be established. It appears to have drifted more slowly than confirmed pseudogenes in the glycosyltransferase 6 family, suggesting that it has remained under evolutionary pressure., [UniProtKB, PubMed]; The Fs synthase gene, GBGT1, in A(pae) individuals encoded an arginine to glutamine change at residue 296., [RefSeq, PubMed]; This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 465, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K633;B2RA95;B7Z8S5;Q45F07;Q5T7U9;Q5T7V1;Q8N2K4;Q9UKI5", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0047277 globoside alpha-N-acetylgalactosaminyltransferase activity;GO:0016758 hexosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0031982 vesicle;GO:0016020 membrane", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0009247 glycolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8N5D6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60891-1", "uniprot_id": [ { "id": "PRPS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P60891", "type": "external" } ], "mass": 34834.0, "length": 318, "protein_name": "Ribose-phosphate pyrophosphokinase 1", "gene_name": "PRPS1", "organism": "Human", "refseq_name": "ribose-phosphate pyrophosphokinase 1 isoform 2", "refseq_ac": [ { "id": "NP_001191331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191331", "type": "external" } ], "gene_names_uniprotkb": "PRPS1", "gene_names_refseq": "ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRPS1; PRS-I; PRSI", "protein_names_uniprotkb": "Ribose-phosphate pyrophosphokinase 1; 2.7.6.1; PPRibP; PRS-I; Phosphoribosyl pyrophosphate synthase I", "protein_names_refseq": "dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); deafness 2, perceptive, congenital; deafness, X-linked 2, perceptive, congenital; phosphoribosyl pyrophosphate synthase I; ribose-phosphate diphosphokinase 1; ribose-phosphate pyrophosphokinase 1 isoform 2; ribose-phosphate pyrophosphokinase 1", "tax_id": 9606, "disease": "X-linked nonsyndromic deafness (Disease Ontology:DOID:0050566); Arts syndrome (Disease Ontology:DOID:0050647); Charcot-Marie-Tooth disease X-linked recessive 5 (Disease Ontology:DOID:0110210); phosphoribosylpyrophosphate synthetase superactivity (Disease Ontology:DOID:0111260); X-linked deafness 1 (Disease Ontology:DOID:0111739); retinitis pigmentosa (Disease Ontology:DOID:10584); gout (Disease Ontology:DOID:13189)", "pathway": " (hsa:5631); (R-HSA-73843)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "11237011;1314091;1650777;16939420;16959974;17701896;17701900;20021999;20068231;2155397;22246954;23301498;25491489;25505266;25645385;26992070;27088854;28510447;28514659;28904123;29074724;29557506;30429286;30484775;30833945;31092671;31154438;31217245;31253668;31530632;31844290;31848261;32157095;32161166;32938616;33214551;33968037;34019948;34171305;34357683;34561969;35039981;35051231;35138101;35251023;37308732;38665916;40596516;40914422;4328836;7593598", "class_list": "", "function": "Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Circular RNA circKIF2A Contributes to the Progression of Neuroblastoma Through Regulating PRPS1 Expression by Sponging miR-377-3p., [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B1ALA8;B2R6T7;B4DNL6;D3DUX6;P09329", "ec_number_list": [ { "id": "2.7.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.6.1", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0002189 ribose phosphate diphosphokinase complex;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007399 nervous system development;GO:0009156 ribonucleoside monophosphate biosynthetic process;GO:0006221 pyrimidine nucleotide biosynthetic process;GO:0006144 purine nucleobase metabolic process;GO:0034418 urate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P60891-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FL9-1", "uniprot_id": [ { "id": "GLT14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FL9", "type": "external" } ], "mass": 64321.0, "length": 552, "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 14", "gene_name": "GALNT14", "organism": "Human", "refseq_name": "polypeptide N-acetylgalactosaminyltransferase 14 isoform 2", "refseq_ac": [ { "id": "NP_001240755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240755", "type": "external" } ], "gene_names_uniprotkb": "GALNT14; PRO4994", "gene_names_refseq": "GALNT14; GALNT15; GalNac-T10; GalNac-T14", "protein_names_uniprotkb": "Polypeptide N-acetylgalactosaminyltransferase 14; 2.4.1.41; GalNAc-T14; Polypeptide GalNAc transferase 14; Protein-UDP acetylgalactosaminyltransferase 14; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14; pp-GaNTase 14", "protein_names_refseq": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T10; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14); polypeptide GalNAc transferase 14; polypeptide N-acetylgalactosaminyltransferase 14 isoform 2; polypeptide N-acetylgalactosaminyltransferase 15; pp-GaNTase 14; protein-UDP acetylgalactosaminyltransferase 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:79623); (R-HSA-913709)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10330415;10430883;10753916;11042166;11237011;11283017;11304796;11821425;12507512;12855678;12975309;1329093;14702039;15486459;15489334;15560372;15620693;15815621;17113861;17434446;18537974;19805900;20179215;20356418;22183981;24643043;24715725;25576301;25880248;26992070;28904123;29242379;29351928;29557506;30459171;31292201;31611591;31713889;31844290;32098271;32897882;33298915;33912179;33964375;34087483;34357683;34643088;35051231;35561310;35580925;36010968;36376274;38151984;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney., [UniProtKB]; Cloning and characterization; results provide evidence that pp-GalNAc-T14 is a new member of the pp-GalNAc-T family and suggest that it may be involved in the O-glycosylation in kidney, [RefSeq, PubMed]; GALNT14 and FUT3/6 H-scores were significantly higher in non-small cell lung cancer cell lines sensitive to dulanermin and drozitumab versus resistant cell lines, [RefSeq, PubMed]; GALNT14 may be involved in regulating the apoptotic action of IGFBP-3., [RefSeq, PubMed]; GALNT14 regulates ferroptosis and apoptosis of ovarian cancer through the EGFR/mTOR pathway., [RefSeq, PubMed]; GALNT14-mediated O-glycosylation on PHB2 serine-161 enhances cell growth, migration and drug resistance by activating IGF1R cascade in hepatoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; GALNT14: An Emerging Marker Capable of Predicting Therapeutic Outcomes in Multiple Cancers. Review article Publication Status: Online-Only, [RefSeq, PubMed]; GALNT2/14 overexpression correlate with prognosis and methylation: potential therapeutic targets for lung adenocarcinoma., [RefSeq, PubMed]; Potentially functional genetic variants in ferroptosis-related CREB3 and GALNT14 genes predict survival of hepatitis B virus-related hepatocellular carcinoma., [RefSeq, PubMed]; Results provide evidence that GalNAc-T14 may be a potential biomarker for breast cancer by immunohistochemistry. Publication Status: Online-Only, [RefSeq, PubMed]; The role of GalNAc-T14 as an intracellular mediator of the effects of IGFBP-3 need to be verified in future studies., [RefSeq, PubMed]; This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 786, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KV89;Q4ZG75;Q53SU1;Q53TJ0;Q8IVI4;Q9BRH1;Q9H827;Q9H9J8", "ec_number_list": [ { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 7434, "hit_score": 6.7, "record_id": "Q96FL9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MZ0-1", "uniprot_id": [ { "id": "GD1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MZ0", "type": "external" } ], "mass": 41973.0, "length": 367, "protein_name": "Ganglioside-induced differentiation-associated protein 1-like 1", "gene_name": "GDAP1L1", "organism": "Human", "refseq_name": "ganglioside-induced differentiation-associated protein 1-like 1 isoform 5", "refseq_ac": [ { "id": "NP_001243669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243669", "type": "external" } ], "gene_names_uniprotkb": "GDAP1L1", "gene_names_refseq": "GDAP1L1; dJ881L22.1; dJ995J12.1.1", "protein_names_uniprotkb": "Ganglioside-induced differentiation-associated protein 1-like 1; GDAP1-L1", "protein_names_refseq": "GDAP1-L1; ganglioside-induced differentiation-associated protein 1-like 1 isoform 5", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595)", "pathway": " (hsa:78997)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;16959974;31844290;33981976;34638757", "class_list": "", "function": "Psoriasiform Inflammation Is Associated with Mitochondrial Fission/GDAP1L1 Signaling in Macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z621;Q5TE60;Q68CW7;Q9BQJ7;Q9BQV4;Q9BWJ4;Q9H3Y2;Q9H4G5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q96MZ0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUM1-1", "uniprot_id": [ { "id": "G6PC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUM1", "type": "external" } ], "mass": 38735.0, "length": 346, "protein_name": "Glucose-6-phosphatase 3", "gene_name": "G6PC3", "organism": "Human", "refseq_name": "glucose-6-phosphatase 3 isoform 1", "refseq_ac": [ { "id": "NP_612396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612396", "type": "external" } ], "gene_names_uniprotkb": "G6PC3; UGRP", "gene_names_refseq": "G6PC3; SCN4; UGRP", "protein_names_uniprotkb": "Glucose-6-phosphatase 3; 3.1.3.9; G-6-Pase 3; G6Pase 3; G6Pase-beta; Glucose-6-phosphatase beta; Ubiquitous glucose-6-phosphatase catalytic subunit-related protein", "protein_names_refseq": "G-6-Pase 3; G6Pase 3; G6Pase-beta; glucose 6 phosphatase, catalytic, 3; glucose-6-phosphatase 3 isoform 1; glucose-6-phosphatase 3; ubiquitous glucose-6-phosphatase catalytic subunit-related protein; ubiquitously expressed G6Pase catalytic subunit-related protein", "tax_id": 9606, "disease": "severe congenital neutropenia 4 (Disease Ontology:DOID:0112136)", "pathway": " (hsa:92579); (R-HSA-3282872); (R-HSA-70263)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10229653;10714828;11237011;11506403;11851336;12093795;12370122;12437512;1278465;12965222;13129915;14718531;14722102;14765991;15710582;18337460;183598;18449899;18613815;19118303;20220065;20616219;20799326;21949678;22050868;22469094;23018568;23298686;23506893;24105461;24750412;25418920;25492228;26154972;26929215;26992070;28218747;28904123;29437277;29557506;29632046;29769354;30315122;30410026;31217245;3170585;31844290;3208766;32157095;32357974;32387766;32938616;3355497;33592498;33968037;33981976;34171305;34305938;34357683;34561969;34964150;35051231;35277194;3529090;35580925;36284347;36546889;37357000;4827367;5009693;6434534;6771269;7144574;7391027;7573034;7717389;8211187;8447317;8571957;8645161;9382095;9428641;9585002;9657976;9678974;9758626", "class_list": "", "function": "Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations. Publication Status: Online-Only, [RefSeq, PubMed]; G6PC indicated poor prognosis in cervical cancer and promoted cervical carcinogenesis in vitro and in vivo. Publication Status: Online-Only, [RefSeq, PubMed]; Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Molecular cloning and characterization of G6PC3, a new glucose-6-phosphatase isoform., [RefSeq, PubMed]; Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population., [RefSeq, PubMed]; Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review., [RefSeq, PubMed]; This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; Ubiquitously expressed G6Pase catalytic subunit-related protein; has a similar predicted transmembrane topology and conservation of many catalytically important residues with the G6Pase catalytic subunit (UGRP), [RefSeq, PubMed]; [Correction of the pathogenic mutation in the G6PC3 gene by adenine base editing in mutant embryos]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WU15", "ec_number_list": [ { "id": "3.1.3.94", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.94", "type": "external" }, { "id": "3.1.3.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.25", "type": "external" }, { "id": "3.1.3.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.9", "type": "external" } ], "go_molecular_function": "GO:0004346 glucose-6-phosphatase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006094 gluconeogenesis;GO:0051156 glucose 6-phosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9BUM1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16478-1", "uniprot_id": [ { "id": "GRIK5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16478", "type": "external" } ], "mass": 109265.0, "length": 980, "protein_name": "Glutamate receptor ionotropic, kainate 5", "gene_name": "GRIK5", "organism": "Human", "refseq_name": "glutamate receptor ionotropic, kainate 5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001287959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287959", "type": "external" } ], "gene_names_uniprotkb": "GRIK5; GRIK2", "gene_names_refseq": "EAA2; GRIK2; GRIK5; GluK5; KA2", "protein_names_uniprotkb": "Glutamate receptor ionotropic, kainate 5; EAA2; Excitatory amino acid receptor 2; GluK5; Glutamate receptor KA-2; KA2", "protein_names_refseq": "excitatory amino acid receptor 2; glutamate receptor KA2; glutamate receptor ionotropic, kainate 5 isoform 1 precursor; glutamate receptor ionotropic, kainate 5; putative NMDtranscript(altDon_e2); putative NMDtranscript(del_e13-e15)", "tax_id": 9606, "disease": "chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); temporal lobe epilepsy (Disease Ontology:DOID:3328)", "pathway": " (hsa:2901); (R-HSA-451308)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10.1101/2023.09.13.557529;11237011;1321949;14511640;19342380;24715725;27600516;28218747;29437277;30339823;30827500;33592498;35494241;36959746;8730589;8782898;9625352", "class_list": "", "function": "Authors present evidence that the ER retention signals in the kainate receptors containing GluK5 impose a requirement for sorting into local dendritic secretory pathways in neurons, as opposed to traversing the somatic Golgi apparatus., [RefSeq, PubMed]; GRIK5 stimulates colon cancer growth and metastasis through cAMP/PKA/CADM3 signaling., [RefSeq, PubMed]; Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid. Cannot form functional channels on its own and produces channel activity only in heteromeric assembly with GRIK1 and GRIK2 subunits (PubMed:1321949, PubMed:14511640, PubMed:8730589). Can form functional heteromeric receptors with GRIK3 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Low GRIK5 expression is associated with eye diseases., [RefSeq, PubMed]; This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 11, "predicted_n_glycosites": 10, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q8WWG8", "ec_number_list": [], "go_molecular_function": "GO:0015277 kainate selective glutamate receptor activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0099507 ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0042734 presynaptic membrane;GO:0032983 kainate selective glutamate receptor complex", "go_biological_process": "GO:0035249 synaptic transmission, glutamatergic;GO:0050804 modulation of chemical synaptic transmission;GO:0007215 glutamate receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q16478-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXQ4-1", "uniprot_id": [ { "id": "GPAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXQ4", "type": "external" } ], "mass": 38142.0, "length": 340, "protein_name": "GPALPP motifs-containing protein 1", "gene_name": "GPALPP1", "organism": "Human", "refseq_name": "GPALPP motifs-containing protein 1 isoform a", "refseq_ac": [ { "id": "NP_001303880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303880", "type": "external" } ], "gene_names_uniprotkb": "GPALPP1; AD029; KIAA1704; LSR7", "gene_names_refseq": "AD029; GPALPP1; KIAA1704; LSR7; bA245H20.2", "protein_names_uniprotkb": "GPALPP motifs-containing protein 1; Lipopolysaccharide-specific response protein 7", "protein_names_refseq": "GPALPP motifs-containing protein 1 isoform a; GPALPP motifs-containing protein 1; lipopolysaccharide specific response-7 protein; lipopolysaccharide-specific response protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:55425)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17081983;17924679;18452278;18669648;19651622;19690332;20058876;20068231;21406692;22645359;23186163;24275569;24715725;26811146;26992070;27600516;27920218;28063628;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30379171;30779550;31154438;31217245;31373491;31844290;31848261;31998317;32157095;32938616;32983136;33633747;33912179;33968037;33981976;34185709;34561969;35051231;35561310;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K8X8;Q05BX8;Q05D87;Q5T3Z3;Q5T3Z5;Q9C0F9;Q9H2R0;Q9P0W6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8IXQ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92730-1", "uniprot_id": [ { "id": "RND1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92730", "type": "external" } ], "mass": 26056.0, "length": 232, "protein_name": "Rho-related GTP-binding protein Rho6", "gene_name": "RND1", "organism": "Human", "refseq_name": "rho-related GTP-binding protein Rho6 precursor", "refseq_ac": [ { "id": "NP_055285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055285", "type": "external" } ], "gene_names_uniprotkb": "RND1; RHO6", "gene_names_refseq": "ARHS; RHO6; RHOS; RND1", "protein_names_uniprotkb": "Rho-related GTP-binding protein Rho6; 3.6.5.2; Rho family GTPase 1; Rnd1", "protein_names_refseq": "ras homolog gene family, member S; rho-related GTP-binding protein Rho6 precursor; rho-related GTP-binding protein Rho6", "tax_id": 9606, "disease": "", "pathway": " (hsa:27289); (R-HSA-399955); (R-HSA-416550); (R-HSA-416572); (R-HSA-9696273)", "pathway_count": 5, "publication_count": 54, "publication_id_list": "10652353;10664463;10679438;10934324;11018042;11035813;11095956;11237011;11784792;11937491;11940653;12185584;12196628;12198496;12220504;12422220;12730235;12842009;15210733;15738000;16188938;16219803;16286926;16702230;16799460;16930978;17151359;18025083;18996843;19103606;19843518;20811643;24690281;28832583;28904123;29242379;2966156;30833945;31344837;31844290;31871319;32502341;33141586;33298915;33912179;34171305;35051231;35102202;35334070;35561310;35654795;3839510;8702756;9531558", "class_list": "", "function": "Endothelial Notch signaling directly regulates the small GTPase RND1 to facilitate Notch suppression of endothelial migration. Publication Status: Online-Only, [RefSeq, PubMed]; Essential role of Rnd1 in innate immunity during viral and bacterial infections. Publication Status: Online-Only, [RefSeq, PubMed]; Lacks intrinsic GTPase activity. Has a low affinity for GDP, and constitutively binds GTP. Controls rearrangements of the actin cytoskeleton. Induces the Rac-dependent neuritic process formation in part by disruption of the cortical actin filaments. Causes the formation of many neuritic processes from the cell body with disruption of the cortical actin filaments., [UniProtKB, PubMed]; MiR-4652-5p Targets RND1 to Regulate Cell Adhesion and Promote Lung Squamous Cell Carcinoma Progression., [RefSeq, PubMed]; This gene encodes a protein that belongs to the Rho GTPase family. Members of this family regulate the organization of the actin cytoskeleton in response to extracellular growth factors. A similar protein in rat interacts with a microtubule regulator to control axon extension. [provided by RefSeq, Apr 2014]., [RefSeq]; We highlight that RND1 expression is induced by anticancer agents and modulates their response. Of note, RND1 mRNA levels in tumors could be used as a predictive marker of both patient prognosis and response to anticancer agents. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K9P7", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.4.17.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.22", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.94", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005102 signaling receptor binding;GO:0005525 GTP binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007015 actin filament organization;GO:0007162 negative regulation of cell adhesion;GO:0007165 signal transduction;GO:0016322 neuron remodeling;GO:0032956 regulation of actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q92730-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYX1-1", "uniprot_id": [ { "id": "TBC21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYX1", "type": "external" } ], "mass": 39221.0, "length": 336, "protein_name": "TBC1 domain family member 21", "gene_name": "TBC1D21", "organism": "Human", "refseq_name": "TBC1 domain family member 21 isoform 2", "refseq_ac": [ { "id": "NP_001273363", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273363", "type": "external" } ], "gene_names_uniprotkb": "TBC1D21; MGCRABGAP", "gene_names_refseq": "MgcRabGAP; TBC1D21", "protein_names_uniprotkb": "TBC1 domain family member 21; Male germ cell Rab GTPase-activating protein", "protein_names_refseq": "TBC1 domain family member 21 isoform 2; male germ cell Rab GTPase-activating protein; male germ cell-specific expressed, containing a RabGAP domain", "tax_id": 9606, "disease": "", "pathway": " (hsa:161514)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;19077034;21128978;24938310;28067790;28411811;29557506;32976492;39531497", "class_list": "", "function": "Acts as a GTPase-activating protein for Rab family protein(s) (PubMed:19077034, PubMed:28067790). Essential for the establishment of male fertility, and is required for both the production of normal sperm number and sperm function (By similarity). Plays an important role in the formation of intact mitochondria, outer dense fibers and axoneme within the sperm tail (By similarity). Essential for sperm mitochondrial sheath formation and for the interactions of ARMC12 with VDAC2 and VDAC3 (By similarity). May be involved in acrosome formation and cytoskeletal reorganization during spermiogenesis, possibly by regulating RAB3A activity (PubMed:21128978)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Data indicate that single-nucleotide polymorphisms (SNPs) distributing in not only lysyl oxidase-like 1 gene (LOXL1) but also TBC1 domain family member 21 protein (TBC1D21) and promyelocytic leukemia protein (PML). Publication Status: Online-Only, [RefSeq, PubMed]; Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice. Publication Status: Online-Only, [RefSeq, PubMed]; MgcRabGAP is involved in acrosome/acroplaxome formation and cytoskeletal reorganization via Rab activity during mammalian spermiogenesis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9A6M2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0031410 cytoplasmic vesicle;GO:0001669 acrosomal vesicle;GO:0097225 sperm midpiece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0007288 sperm axoneme assembly;GO:0048227 plasma membrane to endosome transport;GO:0120317 sperm mitochondrial sheath assembly", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8IYX1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86X10-1", "uniprot_id": [ { "id": "RLGPB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86X10", "type": "external" } ], "mass": 166799.0, "length": 1494, "protein_name": "Ral GTPase-activating protein subunit beta", "gene_name": "RALGAPB", "organism": "Human", "refseq_name": "ral GTPase-activating protein subunit beta isoform 1", "refseq_ac": [ { "id": "NP_001269846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269846", "type": "external" } ], "gene_names_uniprotkb": "RALGAPB; KIAA1219", "gene_names_refseq": "KIAA1219; RALGAPB; RalGAPbeta", "protein_names_uniprotkb": "Ral GTPase-activating protein subunit beta; p170", "protein_names_refseq": "Ral GTPase activating protein non-catalytic beta subunit; Ral GTPase activating protein, beta subunit (non-catalytic); ral GTPase-activating protein subunit beta isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57148); (R-HSA-1445148)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15302935;15919790;15971998;16490346;16880201;16964243;17369524;17995453;18452278;18669648;19013499;19252894;19690332;20068231;20631154;20701589;20837646;20937701;21454505;21454690;21907143;22706990;22898188;23186163;23481700;24275569;24715725;24814574;25418920;2550440;25576301;25645385;26154972;26375851;26758079;26811146;26992070;27397612;27600516;27846572;27920218;28218747;28228285;28514659;28657654;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29930882;30192525;30315122;30410026;30484775;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34009715;34087483;34171305;34185709;34357683;34405274;34509645;34561969;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38253038;8094051;8664345", "class_list": "", "function": "Deregulation of RalGAPbeta might cause genomic instability, leading to human carcinogenesis., [RefSeq, PubMed]; Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Ral GTPase-activating protein regulates the malignancy of pancreatic ductal adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A2A2E8;A2A2E9;Q5TG31;Q8N3D1;Q8WWC0;Q9H3X8;Q9UJR1;Q9ULK1;Q9Y3G9", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0090630 activation of GTPase activity;GO:0032484 Ral protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q86X10-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78333-1", "uniprot_id": [ { "id": "GPC5_HUMAN", "url": "https://www.uniprot.org/uniprot/P78333", "type": "external" } ], "mass": 63707.0, "length": 572, "protein_name": "Glypican-5", "gene_name": "GPC5", "organism": "Human", "refseq_name": "glypican-5 precursor", "refseq_ac": [ { "id": "NP_004457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004457", "type": "external" } ], "gene_names_uniprotkb": "GPC5", "gene_names_refseq": "GPC5", "protein_names_uniprotkb": "Glypican-5", "protein_names_refseq": "bA93M14.1; glypican proteoglycan 5; glypican-5 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:2262); (R-HSA-1971475); (R-HSA-2022928); (R-HSA-2024096); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3656237); (R-HSA-3656253); (R-HSA-4420332); (R-HSA-5362798); (R-HSA-9694614); (R-HSA-975634); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9820960); (R-HSA-9833110); (R-HSA-9918481); (R-HSA-9918485)", "pathway_count": 18, "publication_count": 312, "publication_id_list": "10026158;10052934;10318803;10446189;10466419;10473568;10480354;10506123;10619433;10639137;10644753;10677367;10716625;10769148;10842173;11027606;11035113;11060341;11087757;11099377;11169766;11181758;11237011;11238108;11274177;11274389;11279150;11337487;11390981;11391482;11477410;11551958;11607032;11747608;11833835;11877387;12015973;12052963;12138164;12213822;12372301;12441129;12492399;12522689;12682107;1279089;12907439;12927802;14519844;14762106;14976261;14982929;14993226;15010527;15082721;15084397;15098107;15110707;15140961;15163706;15211654;15294915;15358783;1542003;15461586;15474033;15507651;15583000;15607426;15647319;15647514;15838506;15963974;16151907;16161994;1618828;16200213;16343444;16619025;16939223;16960811;16962401;17033958;17194707;17210683;17506785;17525477;17598008;17609110;17635713;17644776;17967162;18087047;18266465;18295589;18420935;18460466;18477453;18507396;1856611;1874730;19014918;1902833;19139408;19176481;19297154;1930190;19344451;1946389;19473117;2040636;20410276;20412775;20427285;20554947;20560209;20560210;20576607;20650889;20691685;21068237;21106934;2122463;21257310;21325420;21339334;21664575;21700882;21763480;21851338;21911577;21932952;22090124;22144186;22467855;2248955;22496216;22609552;22618708;22652793;22677548;2271516;22786881;22810237;22816037;22902404;23006890;23084921;23105391;23118222;23481700;23621622;23656592;23658209;23664117;23664118;23683607;23719536;2384594;23867465;24074594;24106281;24227843;24425863;24443026;24554904;2538457;25521717;25713144;25854864;25855704;26056282;26092250;26212330;26311884;26468529;26953343;2704749;27108190;271951;27277342;27550352;27832191;27920218;2793848;28132690;28148688;28832583;29242379;29419409;29427996;29437578;29508533;29557506;29610346;29632046;29742433;29902443;30471091;3052293;30599162;30918026;31003762;31262782;31439947;31720911;31844290;31848261;32125455;32142651;32161166;32179150;32350084;32362314;32387766;32502341;32512386;32532959;32653452;32703818;3275472;32970989;32995803;33082293;33082294;33159882;33177556;33298900;33493182;33493263;33494095;33512817;33554856;33606708;33717175;33774649;34023935;34079082;34159616;34179075;34235261;34235568;34324210;34431042;34510494;34542788;34561887;34561969;34611326;34732583;34782609;34929169;34932366;35051231;35215846;3527261;35343766;35676258;36102648;36951953;3714052;37340703;3744129;37726033;37925034;3863104;3942763;4345202;5057882;5675424;6323392;6420172;6496574;6961410;6980899;7493035;7499257;7550340;7601448;7683668;7711731;8017323;8144529;8384721;8578528;8598903;8639673;8639781;8728311;8776591;8782816;8894688;8981950;9070915;9218519;9285796;9326317;9331333;9346953;9459334;9463333;9469622;9506957;9535912;9620772;9888420;9892646;9915799;9920938;9925661;9931503;9988767", "class_list": "glycogene", "function": "Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]., [RefSeq]; Cell surface proteoglycan that bears heparan sulfate., [UniProtKB]; GPC5 suppresses lung cancer progression and metastasis via intracellular CTDSP1/AhR/ARNT signaling axis and extracellular exosome secretion., [RefSeq, PubMed]; Glypican-1, -3, -5 (GPC1, GPC3, GPC5) and Hedgehog Pathway Expression in Oral Squamous Cell Carcinoma., [RefSeq, PubMed]; Subcellular localization of glypican-5 is associated with dynamic motility of the human mesenchymal stem cell line U3DT. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 8, "predicted_n_glycosites": 3, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 966, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B2R726;O60436;Q9BX27", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0016477 cell migration;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:1905475 regulation of protein localization to membrane", "synthesized_glycan_count": 0, "hit_score": 31.5, "record_id": "P78333-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6DWJ6-1", "uniprot_id": [ { "id": "GP139_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6DWJ6", "type": "external" } ], "mass": 40679.0, "length": 353, "protein_name": "Probable G protein-coupled receptor 139", "gene_name": "GPR139", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 139 isoform 1", "refseq_ac": [ { "id": "NP_001002911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002911", "type": "external" } ], "gene_names_uniprotkb": "GPR139; GPRG1; PGR3", "gene_names_refseq": "GPR139; GPRg1; PGR3", "protein_names_uniprotkb": "Probable G protein-coupled receptor 139; G protein-coupled receptor PGR3; G(q)-coupled orphan receptor GPRg1", "protein_names_refseq": "G protein-coupled receptor PGR3; g(q)-coupled orphan receptor GPRg1; probable G-protein coupled receptor 139 isoform 1; probable G-protein coupled receptor 139", "tax_id": 9606, "disease": "", "pathway": " (hsa:124274)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;12044878;12679517;15845401;35051231", "class_list": "", "function": "Molecular cloning of GPRg1, a Gq-coupled orphan receptor that is expressed in the brain., [RefSeq, PubMed]; Orphan receptor. Seems to act through a G(q/11)-mediated pathway., [UniProtKB]; This gene encodes a member of the rhodopsin family of G-protein-coupled receptors. The encoded protein is almost exclusively expressed in the central nervous system. L-tryptophan and L-phenylalanine may act as the physiologic ligands of the encoded protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K5R9;Q86SP2;Q8TDU8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0008188 neuropeptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6DWJ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95390-1", "uniprot_id": [ { "id": "GDF11_HUMAN", "url": "https://www.uniprot.org/uniprot/O95390", "type": "external" } ], "mass": 45091.0, "length": 407, "protein_name": "Growth/differentiation factor 11", "gene_name": "GDF11", "organism": "Human", "refseq_name": "growth/differentiation factor 11 preproprotein", "refseq_ac": [ { "id": "NP_005802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005802", "type": "external" } ], "gene_names_uniprotkb": "GDF11; BMP11", "gene_names_refseq": "BMP-11; BMP11; GDF11; VHO", "protein_names_uniprotkb": "Growth/differentiation factor 11; BMP-11; Bone morphogenetic protein 11; GDF-11", "protein_names_refseq": "GDF-11; bone morphogenetic protein 11; growth/differentiation factor 11 preproprotein", "tax_id": 9606, "disease": "vertebral hypersegmentation and orofacial anomalies (Disease Ontology:DOID:0070418)", "pathway": " (hsa:10220)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10075854;10391213;11237011;17912435;23090970;23584533;24190977;26919518;28218747;28257634;28832583;28834231;29242379;29437277;30429286;31215115;31844290;32350084;33936100;34357683;35051231;35251023;37801347;37905957;38143761;38369181;39237910", "class_list": "", "function": "Growth differentiation factor-11 upregulates matrix metalloproteinase 2 expression by inducing Snail in human extravillous trophoblast cells., [RefSeq, PubMed]; Mutual regulation between GDF11 and TET2 prevents senescence of mesenchymal stem cells., [RefSeq, PubMed]; Novel insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks. Publication Status: Online-Only, [RefSeq, PubMed]; Oncogenic miR-106b-5p promotes cisplatin resistance in triple-negative breast cancer by targeting GDF11., [RefSeq, PubMed]; Quantitative real-time reverse transcription-PCR in colorectal cancer specimens obtained from 130 patients showed that GDF11 mRNA expression in cancer tissue was significantly higher than in normal tissue, [RefSeq, PubMed]; Secreted signal that acts globally to regulate anterior/posterior axial patterning during development. May play critical roles in patterning both mesodermal and neural tissues (By similarity). It is required for proper vertebral patterning and orofacial development (PubMed:31215115). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:28257634)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; The regulatory effect of growth differentiation factor 11 on different cells. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9UID1;Q9UID2", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007399 nervous system development;GO:0045665 negative regulation of neuron differentiation;GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0001501 skeletal system development;GO:0032924 activin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "O95390-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11413-1", "uniprot_id": [ { "id": "G6PD_HUMAN", "url": "https://www.uniprot.org/uniprot/P11413", "type": "external" } ], "mass": 59257.0, "length": 515, "protein_name": "Glucose-6-phosphate 1-dehydrogenase", "gene_name": "G6PD", "organism": "Human", "refseq_name": "glucose-6-phosphate 1-dehydrogenase isoform a", "refseq_ac": [ { "id": "NP_000393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000393", "type": "external" } ], "gene_names_uniprotkb": "G6PD", "gene_names_refseq": "CNSHA1; G6PD1; G6PD", "protein_names_uniprotkb": "Glucose-6-phosphate 1-dehydrogenase; 1.-.-.-; 1.1.1.49; G6PD", "protein_names_refseq": "epididymis secretory sperm binding protein; glucose-6-phosphate 1-dehydrogenase isoform a; glucose-6-phosphate 1-dehydrogenase", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); congenital nonspherocytic hemolytic anemia 1 (Disease Ontology:DOID:0051003); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); malaria (Disease Ontology:DOID:12365); hepatic encephalopathy (Disease Ontology:DOID:13413); cholestasis (Disease Ontology:DOID:13580); favism (Disease Ontology:DOID:13628); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); renovascular hypertension (Disease Ontology:DOID:1591); transient cerebral ischemia (Disease Ontology:DOID:224); anemia (Disease Ontology:DOID:2355); neonatal jaundice (Disease Ontology:DOID:2383); congenital nonspherocytic hemolytic anemia (Disease Ontology:DOID:2861); kidney disease (Disease Ontology:DOID:557); hemolytic anemia (Disease Ontology:DOID:583); myocardial infarction (Disease Ontology:DOID:5844); cerebrovascular disease (Disease Ontology:DOID:6713); hepatocellular carcinoma (Disease Ontology:DOID:684); cataract (Disease Ontology:DOID:83); hyperhomocysteinemia (Disease Ontology:DOID:9279); phenylketonuria (Disease Ontology:DOID:9281); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2539); (R-HSA-5628897); (R-HSA-71336); (R-HSA-9818028)", "pathway_count": 4, "publication_count": 317, "publication_id_list": "10329961;10518023;10627140;10666231;10716435;10734064;10745013;10772881;10869557;10980602;11029283;11034341;11112389;11237011;11283793;11340051;11445808;11486029;11499668;11545734;11852882;11857737;11959846;12028056;12130518;12161445;12203114;12234984;12438239;12453409;12524354;12665801;12714747;12768444;12869586;12906785;1303173;1303180;1303182;13298683;1353664;13538944;14278484;1459579;14651849;14988808;15105503;15223;15349799;1536798;1551674;15589136;15592455;1562739;15858258;1611091;16136268;16140933;16143877;16155737;1631957;16408927;16413492;16636147;16728594;16760263;16832;16839880;17233850;17298220;1733837;17486094;17540029;17585908;17804405;18043863;1805484;18083107;18186520;18198340;18344994;18369606;18560757;18692468;1874446;18775706;1879833;1889820;19113821;1924316;19273602;19439913;1945893;19487573;19608861;1972698;1978554;1978555;19822145;1999339;20007901;2005960;20068231;20080666;20112406;20182617;20351271;20378837;20649491;20923965;2157298;21750704;21775727;21958598;22223895;2222408;22363791;22431005;2253938;2255919;2263506;22682222;22789539;22965115;23186163;2321910;23301498;23775793;2393028;24066844;2428611;24366874;24383451;24714562;24715725;24718924;24769394;2503817;25229427;25418920;25576301;25579166;25645385;2572288;25810538;2581946;25880248;2602358;26154972;26375851;26399441;26479991;26652033;26728094;26811146;26853435;26992070;27535533;2758468;27600516;27846572;27920218;28218747;28228285;2836867;28510447;28514659;28832583;28834231;28855257;28904123;2910917;2912069;2912886;29138396;29192674;29242379;29333274;29393594;29493099;29557506;29632046;29769354;3012556;30315122;30397120;30429286;30484775;30833945;30988594;31217245;31222486;3126064;31844290;31848261;31989830;31998317;32157095;32265295;32284348;32303435;32336239;32350084;32357974;32387766;32488085;32502341;32582032;32649885;32863204;32938616;32983136;33043033;33123756;33298915;3338798;33592498;33717175;33859744;33912179;3393536;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34357683;3446582;34509645;34725712;34784249;35008409;35051231;35122041;35138101;3515319;35251023;35580925;36010968;36241641;36284347;36565645;38066190;38665916;38834682;38918629;38938571;39164542;39276450;3932573;3994686;40596516;40914422;4125296;4154774;4283789;4388132;4435794;4837298;4974311;5305539;5369703;5448;5485383;5492291;5666113;5673160;5770172;6344088;6433630;6696761;669721;6698555;6714978;6714986;6805883;7055648;7106752;7129446;7160841;7203486;7291768;7327562;7390473;7396409;743300;7825590;7857286;7858267;7947250;7959695;7979252;7989588;8119488;8193373;8300619;8364584;8447319;8466644;8471773;8477268;848857;8490627;8533762;8733135;8807322;8956035;903703;9233561;9342374;9357955;9452072;9674740;9920387;9926927", "class_list": "glycogene", "function": "Adaptive selection at G6PD and disparities in diabetes complications., [RefSeq, PubMed]; Brucella induced upregulation of NO promote macrophages glycolysis through the NF-kappaB/G6PD pathway., [RefSeq, PubMed]; Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis. Also catalyzes the conversion of NAADPH, which is produced by enzymes such as DUOX1, DUOX2 and NOX5 from NAADP and promotes Ca(2+) signaling during T cell activation, back to NAADP (PubMed:34784249)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients., [RefSeq, PubMed]; Risk of diabetes mellitus based on the interactive association between G6PD rs72554664 polymorphism and sex in Taiwan Biobank individuals. Publication Status: Online-Only, [RefSeq, PubMed]; The global role of G6PD in infection and immunity. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 601, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 25, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DWX9;Q16000;Q16765;Q8IU70;Q8IU88;Q8IUA6;Q96PQ2", "ec_number_list": [ { "id": "3.1.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.31", "type": "external" }, { "id": "1.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.47", "type": "external" }, { "id": "1.1.1.363", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.363", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.1.1.49", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.49", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0004345 glucose-6-phosphate dehydrogenase activity;GO:0050661 NADP binding;GO:0005536 D-glucose binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development;GO:0006739 NADP+ metabolic process;GO:0043249 erythrocyte maturation;GO:0006629 lipid metabolic process;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 32.0, "record_id": "P11413-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EK6-1", "uniprot_id": [ { "id": "GNA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EK6", "type": "external" } ], "mass": 20749.0, "length": 184, "protein_name": "Glucosamine 6-phosphate N-acetyltransferase", "gene_name": "GNPNAT1", "organism": "Human", "refseq_name": "glucosamine 6-phosphate N-acetyltransferase", "refseq_ac": [ { "id": "NP_932332", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_932332", "type": "external" } ], "gene_names_uniprotkb": "GNPNAT1; GNA1", "gene_names_refseq": "GNA1; GNPNAT1; GNPNAT; Gpnat1; RHZDAN", "protein_names_uniprotkb": "Glucosamine 6-phosphate N-acetyltransferase; 2.3.1.4; Phosphoglucosamine acetylase; Phosphoglucosamine transacetylase", "protein_names_refseq": "glucosamine 6-phosphate N-acetyltransferase; phosphoglucosamine acetylase; phosphoglucosamine transacetylase", "tax_id": 9606, "disease": "keratosis follicularis spinulosa decalvans (Disease Ontology:DOID:0080753); cancer (Disease Ontology:DOID:162); rhizomelic dysplasia, Ain-Naz type (MONDO:MONDO:0859203)", "pathway": " (hsa:64841); (R-HSA-446210)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10198162;10824116;11237011;11707391;11726282;12174217;1460020;17010375;18601654;18675810;21073341;21310273;22692205;24715725;25576301;26935656;26992070;27600516;27846572;28218747;28228285;28510447;28832583;28834231;29242379;30315122;31844290;31848261;31998317;32157095;32488085;32591345;32983136;33178836;33298915;33592498;33686019;33936100;33968037;34019948;34171305;37215111;37387422;9990133", "class_list": "glycogene", "function": "Crystal structures of human GNA1, including apo GNA1, the GNA1-GlcN6P complex and an E156A mutant were reported., [RefSeq, PubMed]; GNPNAT1 is a potential biomarker correlated with immune infiltration and immunotherapy outcome in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; GNPNAT1 promotes the stemness of breast cancer and serves as a potential prognostic biomarker., [RefSeq, PubMed]; Independent Prognostic Potential of GNPNAT1 in Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Potential role of glucosamine-phosphate N-acetyltransferase 1 in the development of lung adenocarcinoma., [RefSeq, PubMed]; The Glucosamine-6-phosphate N-acetyltransferase1 (GNA1) catalyses the transfer of an acetyl group from acetyl coenzyme A to glucosamine-6-phosphate to form N-acetylglucosamine-6-phosphate which is an essential intermediate in UDP-GlcNAc biosynthesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 161, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.3.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.4", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004343 glucosamine 6-phosphate N-acetyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005770 late endosome;GO:0010008 endosome membrane;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment", "go_biological_process": "GO:0006048 UDP-N-acetylglucosamine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96EK6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5UAW9-1", "uniprot_id": [ { "id": "GP157_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5UAW9", "type": "external" } ], "mass": 36623.0, "length": 335, "protein_name": "G protein-coupled receptor 157", "gene_name": "GPR157", "organism": "Human", "refseq_name": "G-protein coupled receptor 157", "refseq_ac": [ { "id": "NP_079256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079256", "type": "external" } ], "gene_names_uniprotkb": "GPR157", "gene_names_refseq": "GPR157", "protein_names_uniprotkb": "G protein-coupled receptor 157", "protein_names_refseq": "G-protein coupled receptor 157; probable G-protein coupled receptor 157", "tax_id": 9606, "disease": "", "pathway": " (hsa:80045)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18691976;28832583;29769354;32265295;32357974;32938616;33298915;34357683;39894887", "class_list": "", "function": "Orphan receptor that promotes neuronal differentiation of radial glial progenitors (RGPs). The activity of this receptor is mediated by a G(q)-protein that activates a phosphatidylinositol-calcium second messenger., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2A334;Q8WWB8;Q9HA73", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0060170 ciliary membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0048512 circadian behavior;GO:0060019 radial glial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5UAW9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60318-1", "uniprot_id": [ { "id": "GANP_HUMAN", "url": "https://www.uniprot.org/uniprot/O60318", "type": "external" } ], "mass": 218405.0, "length": 1980, "protein_name": "Germinal-center associated nuclear protein", "gene_name": "MCM3AP", "organism": "Human", "refseq_name": "germinal-center associated nuclear protein", "refseq_ac": [ { "id": "NP_003897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003897", "type": "external" } ], "gene_names_uniprotkb": "MCM3AP; GANP; KIAA0572; MAP80", "gene_names_refseq": "GANP; MAP80; MCM3AP; PNRIID; SAC3", "protein_names_uniprotkb": "Germinal-center associated nuclear protein; 2.3.1.-; 2.3.1.48; 80 kDa MCM3-associated protein; GANP; MCM3 acetylating protein; MCM3 acetyltransferase; MCM3AP", "protein_names_refseq": "80 kDa MCM3-associated protein; MCM3 acetylating protein; MCM3 acetyltransferase; MCM3 import protein; MCM3 minichromosome maintenance deficient 3 associated protein; germinal center-associated nuclear protein; germinal-center associated nuclear protein; germinal-centre associated nuclear protein", "tax_id": 9606, "disease": "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MONDO:MONDO:0029131)", "pathway": " (hsa:8888)", "pathway_count": 1, "publication_count": 126, "publication_id_list": "10.1101/2023.09.13.557529;11024281;11237011;11258703;12226073;16914116;16959974;18669648;18707149;19413330;19690332;20005110;20068231;20384790;20507984;21195085;22307388;23186163;23301498;23481700;23591820;23652018;24123876;24714562;24715725;25418920;25576301;25802875;26154972;26728094;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28633435;28832583;28834231;28855257;28904123;28969388;29242379;29351928;29393594;29437277;29508533;29557506;29632046;29632711;29982295;30192525;30315122;30379171;30410026;30429286;30484775;30524438;30620550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32202298;32265295;32319184;32357974;32387766;32488085;32502341;32827560;32897882;32938616;32938750;32940099;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34846842;34932366;35051231;35083852;35132862;35138101;35254053;35289036;35318648;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37611268;38253038;38665916;39531497;39534244;40307207;40596516;9712829", "class_list": "", "function": "As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:22307388, PubMed:23591820). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Binds to and acetylates the replication protein MCM3. Plays a role in the initiation of DNA replication and participates in controls that ensure that DNA replication initiates only once per cell cycle (PubMed:11258703, PubMed:12226073). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018)., [UniProtKB, PubMed, PubMed, PubMed]; Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content., [RefSeq, PubMed]; Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease., [RefSeq, PubMed]; Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation., [RefSeq, PubMed]; The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis. Review article, [RefSeq, PubMed]; The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]., [RefSeq]; Two Cases of Periodic Paralysis Associated With MCM3AP Variants., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "C9JL56;Q2M3C1;Q6PJP6;Q9BSY5;Q9UMT4", "ec_number_list": [ { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003676 nucleic acid binding;GO:0042393 histone binding;GO:0004402 histone acetyltransferase activity;GO:0010484 histone H3 acetyltransferase activity", "go_cellular_component": "GO:0044615 nuclear pore nuclear basket;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0034728 nucleosome organization;GO:0006406 mRNA export from nucleus;GO:0015031 protein transport;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "O60318-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48546-1", "uniprot_id": [ { "id": "GIPR_HUMAN", "url": "https://www.uniprot.org/uniprot/P48546", "type": "external" } ], "mass": 53157.0, "length": 466, "protein_name": "Gastric inhibitory polypeptide receptor", "gene_name": "GIPR", "organism": "Human", "refseq_name": "gastric inhibitory polypeptide receptor isoform 1 precursor", "refseq_ac": [ { "id": "NP_000155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000155", "type": "external" } ], "gene_names_uniprotkb": "GIPR", "gene_names_refseq": "GIPR; PGQTL2", "protein_names_uniprotkb": "Gastric inhibitory polypeptide receptor; GIP-R; Glucose-dependent insulinotropic polypeptide receptor", "protein_names_refseq": "GIP-R; gastric inhibitory polypeptide receptor isoform 1 precursor; glucose-dependent insulinotropic polypeptide receptor", "tax_id": 9606, "disease": "cardiovascular system disease (Disease Ontology:DOID:1287); hyperglycemia (Disease Ontology:DOID:4195); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2696); (R-HSA-418555); (R-HSA-420092)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10322410;10698200;11007482;11060443;11237011;11946536;12036966;12058044;12106601;12180353;12860470;1333056;13549488;14671004;1517224;15464082;15471943;15765929;15769620;15951850;16313925;16687412;16923326;17168849;1739432;17715056;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;22412906;2417744;24687066;2491850;2553411;2553705;26417854;28218747;2826231;2871555;29242379;29437277;29443750;29602314;30833991;31154438;3127824;31279028;31399091;31983287;32157095;32226383;32497535;32540603;32618402;32715661;33049737;35051231;36774542;36882778;37298217;38118020;3899557;6085243;6192430;6745415;7556958;7589426;7680413;7700244;7811244;7902709;8144028;8340388;8390245;8514797;8575774;8672451;9263355;9417641;9651336;9990065", "class_list": "", "function": "Association of gastric inhibitory polypeptide receptor (GIPR) gene polymorphism with type 2 diabetes mellitus in iranian patients. Publication Status: Online-Only, [RefSeq, PubMed]; Enhanced Endosomal Signaling and Desensitization of GLP-1R vs GIPR in Pancreatic Beta Cells., [RefSeq, PubMed]; Obesity Variants in the GIPR Gene Are not Associated With Risk of Fracture or Bone Mineral Density., [RefSeq, PubMed]; The Methylation Analysis of the Glucose-Dependent Insulinotropic Polypeptide Receptor (GIPR) Locus in GH-Secreting Pituitary Adenomas. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011]., [RefSeq]; This is a receptor for GIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7WP14;B7ZKQ0;Q14401;Q16400;Q52M04;Q9UPI1", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0017046 peptide hormone binding;GO:0008528 G protein-coupled peptide receptor activity;GO:0016519 gastric inhibitory peptide receptor activity;GO:0120022 glucagon family peptide binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0007166 cell surface receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007190 activation of adenylate cyclase activity;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P48546-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35052-1", "uniprot_id": [ { "id": "GPC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P35052", "type": "external" } ], "mass": 61680.0, "length": 558, "protein_name": "Glypican-1", "gene_name": "GPC1", "organism": "Human", "refseq_name": "glypican-1 precursor", "refseq_ac": [ { "id": "NP_002072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002072", "type": "external" } ], "gene_names_uniprotkb": "GPC1", "gene_names_refseq": "GPC1; glypican", "protein_names_uniprotkb": "Glypican-1", "protein_names_refseq": "epididymis secretory sperm binding protein; glypican proteoglycan 1; glypican-1 precursor", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:2817); (R-HSA-1971475); (R-HSA-2022928); (R-HSA-2024096); (R-HSA-202733); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3656237); (R-HSA-3656253); (R-HSA-376176); (R-HSA-4420332); (R-HSA-9694614); (R-HSA-975634); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9820960); (R-HSA-9833110); (R-HSA-9918481); (R-HSA-9918485)", "pathway_count": 19, "publication_count": 388, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10026158;10052934;10102266;10102268;10318803;10446189;10466419;10473568;10480354;10506123;10606205;10639137;10644753;10677367;10716625;10764623;10769148;10842173;10892742;11027606;11035113;11060341;11087757;11099377;11169766;11181758;11207550;11237011;11238108;11256994;11274177;11274389;11279150;11337487;11375980;11390981;11391482;11477410;11551958;11564780;11607032;11747608;11779189;11812992;11833835;11877387;12052963;12070135;12138164;12208882;12213822;12441129;12469115;12492399;12508280;12522689;12682107;12732622;12782713;1279089;12907439;12927802;14519844;14529530;14615387;14762106;14976261;14982929;14993226;15000751;15010527;15063764;15082721;15084397;15084524;15098107;15140961;15163706;15211654;15294915;15358783;1542003;15461586;15474033;15507651;15528364;15583000;15607426;15647514;15681301;15721307;15838506;1591491;16151907;16161994;1618828;16200213;16258728;16297198;16343444;16585556;16619025;16645004;16691243;16737840;16783819;16939223;16959974;16960811;16962401;16971378;17033958;17064312;17099249;17116209;17167768;17172599;17194707;17322099;17379836;17442946;17452516;17505016;17506785;17525477;17525755;17563375;17565045;17580308;17598008;17600130;17615384;17625065;17635713;17644776;18087047;18266465;18295589;18420935;18452278;18460466;18507396;1856611;1874730;19014918;1902833;19139408;19279206;19297154;1930190;19344451;1946389;19473117;19479373;19775117;19936054;20375348;2040636;20410276;20427285;20554947;20560209;20560210;20576607;20650889;20691685;21068237;21106934;21193412;2122463;21325420;2148568;21642435;21659548;21700882;21763480;21851338;21911577;21932778;21932952;22090124;22144186;22351761;2248955;22496216;22618708;22652793;2271516;22786881;22810237;22816037;23006890;23084921;23090970;23105391;23584533;23621622;23656592;23658209;23664117;23664118;23683607;2384594;23945545;24043627;24074594;24106281;24190977;24227843;24425863;24443026;24554904;24764293;2538457;25521717;25713144;25813380;25854864;25855704;26056282;26092250;26212330;26311884;26468529;26953343;26992070;2704749;27108190;271951;27277342;27550352;27600516;27832191;27862975;2793848;28132690;28148688;28832583;28855257;29242379;29393594;29419409;29427996;29437578;29557506;29610346;29741879;29742433;29902443;30459171;30471091;3052293;30599162;30833945;30918026;31003762;31154438;31262782;31439947;31720911;31844290;31848261;32125455;32142651;32157095;32179150;32350084;32362314;32512386;32532959;32653452;32703818;3275472;32938616;32970989;32995803;33082293;33082294;33159882;33177556;33298900;33493182;33493263;33494095;33554856;33592498;33774649;33968037;34019948;34023935;34159616;34171305;34179075;34235261;34235568;34324210;34431042;34510494;34542788;34561887;34611326;34732583;34782609;34929169;35051231;35215846;3527261;35318648;35343766;35513511;35676258;36010968;36102648;36215666;36944188;36951953;37074911;3714052;37340703;3744129;37726033;37925034;38154549;38204202;3863104;38982153;38992568;3942763;40596516;4345202;468991;5057882;5675424;6323392;6420172;6496574;6961410;6980899;7493035;7499257;7509040;7521878;7550340;7601448;7683668;7711731;8017323;8144529;8163559;8166770;8314844;8384721;8578528;8598903;8639673;8639781;8728311;8776591;8782816;8894688;8981950;9052782;9169774;9218519;9242610;9285796;9295288;9326317;9346953;9382878;9459334;9463333;9469622;9506957;9535912;9620772;9693095;9763524;9888420;9892646;9915799;9920938;9925661;9931503;9988767", "class_list": "glycogene", "function": "Attenuation of cancer proliferation by suppression of glypican-1 and its pleiotropic effects in neoplastic behavior. Publication Status: Online-Only, [RefSeq, PubMed]; Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]., [RefSeq]; Cell surface proteoglycan that bears heparan sulfate. Binds, via the heparan sulfate side chains, alpha-4 (V) collagen and participates in Schwann cell myelination (By similarity). May act as a catalyst in increasing the rate of conversion of prion protein PRPN(C) to PRNP(Sc) via associating (via the heparan sulfate side chains) with both forms of PRPN, targeting them to lipid rafts and facilitating their interaction. Required for proper skeletal muscle differentiation by sequestering FGF2 in lipid rafts preventing its binding to receptors (FGFRs) and inhibiting the FGF-mediated signaling., [UniProtKB, PubMed, PubMed]; Cell surface proteoglycan., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Extracellular Vesicular Analysis of Glypican 1 mRNA and Protein for Pancreatic Cancer Diagnosis and Prognosis., [RefSeq, PubMed]; Glypican-1 may be a plasma biomarker for predicting the rupture of small intracranial aneurysms., [RefSeq, PubMed]; Interplay between glypican-1, amyloid-beta and tau phosphorylation in human neural stem cells., [RefSeq, PubMed]; Pan-cancer analysis and the oncogenic role of Glypican 1 in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 778, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 18, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B3KTD1;Q53QM4", "ec_number_list": [], "go_molecular_function": "GO:0043236 laminin binding;GO:0005507 copper ion binding;GO:0017134 fibroblast growth factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005768 endosome;GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0016477 cell migration;GO:0014037 Schwann cell differentiation;GO:0032288 myelin assembly;GO:0030200 heparan sulfate proteoglycan catabolic process;GO:0040037 negative regulation of fibroblast growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 41.7, "record_id": "P35052-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100001001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XP6-1", "uniprot_id": [ { "id": "GKN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XP6", "type": "external" } ], "mass": 20487.0, "length": 184, "protein_name": "Gastrokine-2", "gene_name": "GKN2", "organism": "Human", "refseq_name": "gastrokine-2 precursor", "refseq_ac": [ { "id": "NP_872342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872342", "type": "external" } ], "gene_names_uniprotkb": "GKN2; BLOT; GDDR; PRO813; TFIZ1", "gene_names_refseq": "BRICD1B; GDDR; GKN2; PRO813; TFIZ1; VLTI465", "protein_names_uniprotkb": "Gastrokine-2; Blottin; Down-regulated in gastric cancer; Trefoil factor interactions(z) 1", "protein_names_refseq": "BRICHOS domain containing 1B; blottin; down-regulated in gastric cancer GDDR; gastrokine-2 precursor; trefoil factor interactions(z) 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:200504)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12921637;12975309;15774165;15924415;16888721;17982272;18593995;18722547;19664994;31382983;31463974;32538140;33009998;37938771", "class_list": "", "function": "Coordinate expression loss of GKN1 and GKN2 in gastric cancer via impairment of a glucocorticoid-responsive enhancer., [RefSeq, PubMed]; GKN1 and GKN2 expression occurs frequently in gastric adenocarcinomas, especially in the diffuse subtype, [RefSeq, PubMed]; In gastric cancer, expression of TFF1 in the absence of TFIZ1 is associated with lymph node metastasis, [RefSeq, PubMed]; NK6 Homeobox 2 Regulated Gastrokin-2 Suppresses Gastric Cancer Cell Proliferation and Invasion via Akt Signaling Pathway., [RefSeq, PubMed]; Study computationally predicted and experimentally validated specific mechanisms of anticancer effects of GKN2 in gastric cancer proliferation and invasion in vitro., [RefSeq, PubMed]; TFIZ1 is an 18.31 kDa binding partner of trefoil factor 1 (TFF1) protein in normal gastric mucosa; it contains an approximately 100 amino acid brichos domain and has homology with surfactant protein C. (TFIZ1; trefoil factor interactions 1), [RefSeq, PubMed]; The TFF1-GKN2 heterodimer and TFF2 differ characteristically by their binding to gastric mucins., [RefSeq, PubMed]; The secretory protein encoded by this gene is produced in gastric surface mucous cells, where it can bind trefoil factor family peptide 1 or gastrokine-1. This gene may be a tumor suppressor gene, as its expression is markedly decreased in gastric cancer tissues. The encoded protein interacts with gastrokine-1 and regulates homeostasis of the gastric mucosa. [provided by RefSeq, Dec 2015]., [RefSeq]; We demonstrated GKN2 might increase sensitivity of GC cells to the drugs which increase ROS levels in tumors. Inhibition of the interaction between GKN2 and Hsc70 could attenuate the effects induced by GKN2. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6UWS6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0045178 basal part of cell;GO:0005576 extracellular region", "go_biological_process": "GO:0042127 regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q86XP6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62841-1", "uniprot_id": [ { "id": "RS15_HUMAN", "url": "https://www.uniprot.org/uniprot/P62841", "type": "external" } ], "mass": 17040.0, "length": 145, "protein_name": "Small ribosomal subunit protein uS19", "gene_name": "RPS15", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS19 isoform 2", "refseq_ac": [ { "id": "NP_001009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009", "type": "external" } ], "gene_names_uniprotkb": "RPS15; RIG", "gene_names_refseq": "RIG; RPS15; S15; uS19", "protein_names_uniprotkb": "Small ribosomal subunit protein uS19; 40S ribosomal protein S15; RIG protein", "protein_names_refseq": "40S ribosomal protein S15; homolog of rat insulinoma; insulinoma protein; small ribosomal subunit protein uS19 isoform 2; small ribosomal subunit protein uS19", "tax_id": 9606, "disease": "chronic lymphocytic leukemia (Disease Ontology:DOID:1040); insulinoma (Disease Ontology:DOID:3892)", "pathway": " (hsa:6209); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 287, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;1466847;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17697703;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;18991276;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;2159154;22072790;22121020;22174690;22190735;22195017;22645359;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25432065;25525153;25576301;25645385;25892735;25969445;26237581;26728094;26992070;27452731;27526673;27543614;27600516;27846572;27920218;28063628;28065601;28132843;2821540;28228285;28510447;28685749;28832583;28834231;28904123;29242379;29393594;29413899;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30293783;30315122;30484775;30524438;30779550;30804176;30833945;31154438;31217245;31530632;31844290;31848261;32099016;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33080218;33141586;33188728;33268501;33298915;33392160;33479166;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34251413;34315815;34373319;34509645;34561969;34624207;34932366;35051231;35251023;35318648;35438042;35526384;35561310;35580925;36215666;36241641;36284347;36302773;36610391;37217939;37264021;37603533;37938771;38665916;39395807;41417911;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399)., [UniProtKB, PubMed]; Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RPS15 interacted with IGF2BP1 to promote esophageal squamous cell carcinoma development via recognizing m[6]A modification. Publication Status: Online-Only, [RefSeq, PubMed]; RPS15 mutations rewire RNA translation in chronic lymphocytic leukemia., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]; The C-terminal tail of ribosomal protein Rps15 is engaged in cytoplasmic pre-40S maturation., [RefSeq, PubMed]; The value of RPS15 and MRPS27 in ischemic stroke., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5D8V9;P11174;Q3KRA1;Q9UDC2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0097371 MDM2/MDM4 family protein binding;GO:1990948 ubiquitin ligase inhibitor activity;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0006412 translation;GO:0001649 osteoblast differentiation;GO:0097421 liver regeneration;GO:0006364 rRNA processing;GO:1901798 positive regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 29.0, "record_id": "P62841-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92973-1", "uniprot_id": [ { "id": "TNPO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92973", "type": "external" } ], "mass": 102355.0, "length": 898, "protein_name": "Transportin-1", "gene_name": "TNPO1", "organism": "Human", "refseq_name": "transportin-1 isoform 1", "refseq_ac": [ { "id": "NP_002261", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002261", "type": "external" } ], "gene_names_uniprotkb": "TNPO1; KPNB2; MIP1; TRN", "gene_names_refseq": "IPO2; KPNB2; MIP1; MIP; TNPO1; TRN", "protein_names_uniprotkb": "Transportin-1; Importin beta-2; Karyopherin beta-2; M9 region interaction protein; MIP", "protein_names_refseq": "M9 region interaction protein; importin 2; importin beta 2; karyopherin (importin) beta 2; karyopherin beta-2; transportin-1 isoform 1", "tax_id": 9606, "disease": "intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (Disease Ontology:DOID:0081262)", "pathway": " (hsa:3842); (R-HSA-450513); (R-HSA-5620924); (R-HSA-9615933)", "pathway_count": 4, "publication_count": 190, "publication_id_list": "10069812;10330172;10353245;10911995;11231159;11237011;11285270;11682607;11719186;12324455;12639954;12646273;12705825;12748283;12795688;14688255;15014438;15117938;15231740;15269286;15489852;15523559;15687258;15944294;15955805;16049494;16262601;16435301;16492809;16704975;16775004;16782012;17098863;17133347;17235358;17312020;17314406;17369404;17574030;18180368;18304522;18316408;18364699;18367721;18369462;18481987;18691969;18691976;18852297;19112494;19124606;19147001;19253336;19384852;19386897;19450523;19720863;19729507;19805633;20068231;20435895;20526327;20526328;20530210;20889716;20974814;21427764;21936775;22118932;22121020;22223895;22922713;22992454;23301498;23481700;23945166;23990561;24140113;24296415;24366607;24596149;24616010;24714562;24715725;24753571;25205765;25349261;25418920;25443296;25505266;25576301;25602437;25645385;25892735;26154972;26375851;26811146;26853435;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30484775;30524438;31217245;31844290;32119511;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34357683;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35154160;35318648;35446349;35526384;35580925;36010968;36215666;36241641;36284347;36529289;36690276;36907439;37938771;38665916;40596516;40914422;8516294;8522608;8808633;8986607;9019411;9114011;9144189;9351834;9428644;9497385;9524220;9585416;9585417;9687515;9852153", "class_list": "", "function": "(Microbial infection) In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev., [UniProtKB, PubMed]; A minimal construct of nuclear-import receptor Karyopherin-beta2 defines the regions critical for chaperone and disaggregation activity., [RefSeq, PubMed]; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates (PubMed:24753571). May mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Involved in nuclear import of M9-containing proteins. In vitro, binds directly to the M9 region of the heterogeneous nuclear ribonucleoproteins (hnRNP), A1 and A2 and mediates their nuclear import. Involved in hnRNP A1/A2 nuclear export. Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5 (PubMed:11682607). In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones (By similarity). In vitro, mediates nuclear import of SRP19 (PubMed:11682607). Mediates nuclear import of ADAR/ADAR1 isoform 1 and isoform 5 in a RanGTP-dependent manner (PubMed:19124606, PubMed:24753571). Main mediator of PR-DUB complex component BAP1 nuclear import; acts redundantly with the karyopherins KPNA1 and KPNA2 (PubMed:35446349)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Rab8 and TNPO1 are ciliary transport adaptors for GTPase Arl13b by interacting with its RVEP motif containing ciliary targeting sequence., [RefSeq, PubMed]; This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in several transcript variants encoding different proteins. [provided by RefSeq, Jun 2018]., [RefSeq]; Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein., [RefSeq, PubMed]; Tumor suppressor BAP1 nuclear import is governed by transportin-1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DVC6;Q92957;Q92975", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0031267 small GTPase binding;GO:0008139 nuclear localization sequence binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q92973-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBA9-1", "uniprot_id": [ { "id": "FOH1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBA9", "type": "external" } ], "mass": 50045.0, "length": 442, "protein_name": "Putative N-acetylated-alpha-linked acidic dipeptidase", "gene_name": "FOLH1B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FOLH1B; GIG26; PSMAL", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative N-acetylated-alpha-linked acidic dipeptidase; 3.4.-.-; Cell growth-inhibiting gene 26 protein; NAALADase; Prostate-specific membrane antigen-like protein; Putative folate hydrolase 1B", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-8963693)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10085079;10369257;10642534;11566871;12602510;14716746;16467855;16669630;17027983;17194761;19641205;19678840;19807691;22304711;2241899;22718265;23038267;24155240;24657844;2564390;27045997;29372909;29557506;30620550;35580925;4052435", "class_list": "", "function": "Exhibits a dipeptidyl-peptidase IV type activity., [UniProtKB]; Has both folate hydrolase and N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity., [UniProtKB]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.4.17.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.21", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:1904492 Ac-Asp-Glu binding;GO:0046872 metal ion binding;GO:0004181 metallocarboxypeptidase activity;GO:0016805 dipeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0006537 glutamate biosynthetic process;GO:1900451 positive regulation of glutamate receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9HBA9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P278-1", "uniprot_id": [ { "id": "FNIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P278", "type": "external" } ], "mass": 122115.0, "length": 1114, "protein_name": "Folliculin-interacting protein 2", "gene_name": "FNIP2", "organism": "Human", "refseq_name": "folliculin-interacting protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001310845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310845", "type": "external" } ], "gene_names_uniprotkb": "FNIP2; FNIPL; KIAA1450; MAPO1", "gene_names_refseq": "FNIP2; FNIPL; MAPO1", "protein_names_uniprotkb": "Folliculin-interacting protein 2; FNIP1-like protein; O6-methylguanine-induced apoptosis 1 protein", "protein_names_refseq": "FNIP1-like protein; O6-methylguanine-induced apoptosis 1 protein; folliculin-interacting protein 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57600); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "11237011;15854902;15878852;16098514;17470430;18403135;18497260;18604198;18663353;19137017;19690332;20381137;22053050;22575674;22980980;23186163;23201403;23481700;23723238;24081491;24095279;24714562;25126726;25259925;25263562;25457612;25561175;25567906;25645385;25819761;26375851;26449471;26586190;26972053;26992070;27308486;27353360;27487210;27600516;27648300;28066558;28199306;28199315;28832583;29053970;29056322;29123071;29236692;29242379;29393594;29557506;29786170;30061680;30181260;30429286;30524438;30651352;31672913;31704029;31844290;31848261;32157095;32350084;32387766;32897882;32938616;32983136;33459596;33537174;33936100;33968037;34171305;34932366;35051231;35580925;36010968;36103527;36241641;36316722;37772772;7499430", "class_list": "", "function": "Binding partner of the GTPase-activating protein FLCN: involved in the cellular response to amino acid availability by regulating the non-canonical mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3 (PubMed:18663353, PubMed:31672913, PubMed:36103527). Required to promote FLCN recruitment to lysosomes and interaction with Rag GTPases, leading to activation of the non-canonical mTORC1 signaling (By similarity). In low-amino acid conditions, component of the lysosomal folliculin complex (LFC) on the membrane of lysosomes, which inhibits the GTPase-activating activity of FLCN, thereby inactivating mTORC1 and promoting nuclear translocation of TFEB and TFE3 (PubMed:31672913, PubMed:36103527). Upon amino acid restimulation, disassembly of the LFC complex liberates the GTPase-activating activity of FLCN, leading to activation of mTORC1 and subsequent inactivation of TFEB and TFE3 (PubMed:31672913). Together with FLCN, regulates autophagy: following phosphorylation by ULK1, interacts with GABARAP and promotes autophagy (PubMed:25126726). In addition to its role in mTORC1 signaling, also acts as a co-chaperone of HSP90AA1/Hsp90: inhibits the ATPase activity of HSP90AA1/Hsp90, leading to activate both kinase and non-kinase client proteins of HSP90AA1/Hsp90 (PubMed:18403135). Acts as a scaffold to load client protein FLCN onto HSP90AA1/Hsp90 (PubMed:18403135). Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:18403135). May play a role in the signal transduction pathway of apoptosis induced by O6-methylguanine-mispaired lesions (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1 activation and tumor progression in pancreatic cancer., [RefSeq, PubMed]; Folliculin-interacting protein FNIP2 impacts on overweight and obesity through a polymorphism in a conserved 3' untranslated region. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; The identification and characterization of a novel FNIP1 homolog FNIP2 that also interacts with FLCN and AMPK, is reported., [RefSeq, PubMed]; This gene encodes a protein that binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK), and may play a role cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. The encoded protein may also be involved in regulating the O6-methylguanine-induced apoptosis signaling pathway. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]., [RefSeq]; This study obtained evidence to show that stabilization of MAPO1 is regulated through its specific interaction with folliculin and AMPK., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q05DC3;Q96I31;Q9H994", "ec_number_list": [], "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0042030 ATPase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0034451 centriolar satellite;GO:1990877 FNIP-folliculin RagC/D GAP", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0031334 positive regulation of protein-containing complex assembly;GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage;GO:0032007 negative regulation of TOR signaling", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9P278-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJU5-1", "uniprot_id": [ { "id": "FOXD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJU5", "type": "external" } ], "mass": 47630.0, "length": 478, "protein_name": "Forkhead box protein D3", "gene_name": "FOXD3", "organism": "Human", "refseq_name": "forkhead box protein D3", "refseq_ac": [ { "id": "NP_036315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036315", "type": "external" } ], "gene_names_uniprotkb": "FOXD3; HFH2", "gene_names_refseq": "AIS1; FOXD3; Genesis; HFH2; VAMAS2", "protein_names_uniprotkb": "Forkhead box protein D3; HNF3/FH transcription factor genesis", "protein_names_refseq": "HNF3/FH transcription factor genesis; autoimmune susceptibility 1; forkhead box protein D3", "tax_id": 9606, "disease": "congenital myasthenic syndrome 7 (Disease Ontology:DOID:0110659); vitiligo (Disease Ontology:DOID:12306); glaucoma (Disease Ontology:DOID:1686); congenital myasthenic syndrome (Disease Ontology:DOID:3635); neuromuscular junction disease (Disease Ontology:DOID:439); autoimmune disease, susceptibility to, 1 (MONDO:MONDO:0011919)", "pathway": " (hsa:27022); (R-HSA-2892247); (R-HSA-9856649)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10209961;10567402;10611221;10655586;10673502;11027551;11751684;11840323;11855863;11891324;11912130;11930005;12065233;14681828;14975237;15118077;15226305;15277698;15342941;15507434;15955829;16014379;16034366;16098053;16153702;16397896;16670092;16822840;16846370;16862074;16954206;16978057;1698554;17068183;1715580;17204602;17267691;1748288;17506876;17567999;17572666;17623675;18212089;18366076;18388306;18644867;18653770;19128516;19440552;19524539;19544431;19608861;19696931;19829295;20460180;20505756;20505821;20526341;20549704;20616345;20624125;20872845;21049019;21486943;21965087;22215994;22306510;22647378;22887036;23159739;23190890;23207919;24218367;24715725;25248477;25595898;25645385;27128622;28394346;29295999;30804224;31940493;32636443;33204001;33744299;34019948;34140478;34551139;35051231;35178865;36627652;37151068;37770430;40272767;5338216;7545930;7688835;7958932;8336698;8499623;9199364;9353119;9354794;9440696;9560246;9676189;9760192;9807024;9973413", "class_list": "", "function": "Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor (PubMed:11891324). Also acts as a transcriptional activator (PubMed:11891324). Negatively regulates transcription of transcriptional repressor RHIT/ZNF205 (PubMed:22306510). Promotes development of neural crest cells from neural tube progenitors (PubMed:11891324). Restricts neural progenitor cells to the neural crest lineage while suppressing interneuron differentiation (PubMed:11891324). Required for maintenance of pluripotent cells in the pre-implantation and peri-implantation stages of embryogenesis (PubMed:11891324)., [UniProtKB, PubMed, PubMed]; FOXD3 Suppresses the Proliferation of CRC Bone Metastatic Cells via the Ras/Raf/MEK/ERK Signaling Pathway., [RefSeq, PubMed]; FOXD3 and GAB2 as a pair of rivals antagonistically control hepatocellular carcinogenesis., [RefSeq, PubMed]; FOXD3 confers chemo-sensitivity in ovarian cancer through a miR-335/DAAM1/myosin II axis-dependent mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; FOXD3 suppresses epithelial-mesenchymal transition through direct transcriptional promotion of SMAD7 in esophageal squamous cell carcinoma., [RefSeq, PubMed]; Long non-coding RNA FOXD3-AS1 silencing exerts tumor suppressive effects in nasopharyngeal carcinoma by downregulating FOXD3 expression via microRNA-185-3p upregulation., [RefSeq, PubMed]; This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BYM2;Q9UDD1", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001701 in utero embryonic development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9UJU5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99988-1", "uniprot_id": [ { "id": "GDF15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99988", "type": "external" } ], "mass": 34140.0, "length": 308, "protein_name": "Growth/differentiation factor 15", "gene_name": "GDF15", "organism": "Human", "refseq_name": "growth/differentiation factor 15 preproprotein", "refseq_ac": [ { "id": "NP_004855", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004855", "type": "external" } ], "gene_names_uniprotkb": "GDF15; MIC1; PDF; PLAB; PTGFB", "gene_names_refseq": "GDF-15; GDF15; HG; MIC-1; MIC1; NAG-1; PDF; PLAB; PTGFB", "protein_names_uniprotkb": "Growth/differentiation factor 15; GDF-15; MIC-1; Macrophage inhibitory cytokine 1; NAG-1; NRG-1; NSAID-activated gene 1 protein; NSAID-regulated gene 1 protein; Placental TGF-beta; Placental bone morphogenetic protein; Prostate differentiation factor", "protein_names_refseq": "NRG-1; NSAID (nonsteroidal anti-inflammatory drug)-activated protein 1; NSAID-activated gene 1 protein; NSAID-regulated gene 1 protein; PTGF-beta; growth/differentiation factor 15 preproprotein; macrophage inhibitory cytokine 1; non-steroidal anti-inflammatory drug-activated gene-1; placental TGF-beta; placental bone morphogenetic protein; prostate differentiation factor", "tax_id": 9606, "disease": "anemia (Disease Ontology:DOID:2355); hyperemesis gravidarum, susceptibility to (MONDO:MONDO:0958238)", "pathway": " (hsa:9518)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;11259636;16428484;23090970;23468844;23481700;23584533;23719902;24190977;24971956;25645385;25813380;26758079;27397612;27600516;27920218;28572090;28846097;28846098;28846099;28953886;29046435;29144449;29242379;29393594;29563502;29789417;30639358;31402172;31535977;31611695;31844290;31848261;31875646;32157095;32350084;32488085;32661391;32694673;32938616;32983136;33207247;33589633;33592498;33968037;33981976;34087483;35051231;35154160;35218128;35251023;36001956;36215666;36241641;36630958;37060902;37074911;37217939;37340703;38056430;38092039;39196800;39206905;39298490;39302247;39327531;39456699;40596516;9326641;9348093;9375789;9426002;9593718", "class_list": "", "function": "GDF-15 and mtDNA Deletions Are Useful Biomarkers of Mitochondrial Dysfunction in Insulin Resistance and PCOS. Publication Status: Online-Only, [RefSeq, PubMed]; Hormone produced in response to various stresses to confer information about those stresses to the brain, and trigger an aversive response, characterized by nausea, vomiting, and/or loss of appetite (PubMed:23468844, PubMed:24971956, PubMed:28846097, PubMed:28846098, PubMed:28846099, PubMed:28953886, PubMed:29046435, PubMed:30639358, PubMed:31875646, PubMed:33589633, PubMed:38092039). The aversive response is both required to reduce continuing exposure to those stresses at the time of exposure and to promote avoidance behavior in the future (PubMed:30639358, PubMed:33589633, PubMed:38092039). Acts by binding to its receptor, GFRAL, activating GFRAL-expressing neurons localized in the area postrema and nucleus tractus solitarius of the brainstem (PubMed:28846097, PubMed:28846098, PubMed:28846099, PubMed:28953886, PubMed:31535977). It then triggers the activation of neurons localized within the parabrachial nucleus and central amygdala, which constitutes part of the 'emergency circuit' that shapes responses to stressful conditions (PubMed:28953886). The GDF15-GFRAL signal induces expression of genes involved in metabolism, such as lipid metabolism in adipose tissues (PubMed:31402172). Required for avoidance behavior in response to food allergens: induced downstream of mast cell activation to promote aversion and minimize harmful effects of exposure to noxious substances (By similarity). In addition to suppress appetite, also promotes weight loss by enhancing energy expenditure in muscle: acts by increasing calcium futile cycling in muscle (By similarity). Contributes to the effect of metformin, an anti-diabetic drug, on appetite reduction and weight loss: produced in the kidney in response to metformin treatment, thereby activating the GDF15-GFRAL response, leading to reduced appetite and weight (PubMed:31875646, PubMed:37060902). The contribution of GDF15 to weight loss following metformin treatment is however limited and subject to discussion (PubMed:36001956). Produced in response to anticancer drugs, such as camptothecin or cisplatin, promoting nausea, vomiting and contributing to malnutrition (By similarity). Overproduced in many cancers, promoting anorexia in cancer (cachexia) (PubMed:32661391). Responsible for the risk of nausea and vomiting during pregnancy: high levels of GDF15 during pregnancy, mostly originating from the fetus, are associated with increased nausea and vomiting (PubMed:38092039). Maternal sensitivity to nausea is probably determined by pre-pregnancy exposure to GDF15, women with naturally high level of GDF15 being less susceptible to nausea than women with low levels of GDF15 before pregnancy (PubMed:38092039). Promotes metabolic adaptation in response to systemic inflammation caused by bacterial and viral infections in order to promote tissue tolerance and prevent tissue damage (PubMed:31402172). Required for tissue tolerance in response to myocardial infarction by acting as an inhibitor of leukocyte integring activation, thereby protecting against cardiac rupture (By similarity). Inhibits growth hormone signaling on hepatocytes (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification and characterization of human GDF15 knockouts., [RefSeq, PubMed]; METTL14-Mediated m6A Modification of TUG1 Represses Ferroptosis in Alzheimer's Disease via Inhibiting GDF15 Ubiquitination., [RefSeq, PubMed]; MIC-1, a divergent TGF-b superfamily cytokine, was cloned from a U937 subtracted cDNA library enriched for activation-associated sequences. It is induced in macrophages by many activation-associated stimuli but not LPS or IFN-g, [RefSeq, PubMed]; Secreted GDF15 maintains transcriptional responses during DNA damage-mediated senescence in human beta cells., [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016]., [RefSeq]; Transcription factor EGR2 alleviates autoimmune uveitis via activation of GDF15 to modulate the retinal microglial phenotype., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O14629;P78360;Q9BWA0;Q9NRT0", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005125 cytokine activity;GO:0005179 hormone activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0060400 negative regulation of growth hormone receptor signaling pathway;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0043410 positive regulation of MAPK cascade;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q99988-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCL1-1", "uniprot_id": [ { "id": "GEMC1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCL1", "type": "external" } ], "mass": 37887.0, "length": 334, "protein_name": "Geminin coiled-coil domain-containing protein 1", "gene_name": "GMNC", "organism": "Human", "refseq_name": "geminin coiled-coil domain-containing protein 1", "refseq_ac": [ { "id": "NP_001140158", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140158", "type": "external" } ], "gene_names_uniprotkb": "GMNC; GEMC1", "gene_names_refseq": "GEMC1; GMNC", "protein_names_uniprotkb": "Geminin coiled-coil domain-containing protein 1", "protein_names_refseq": "geminin coiled-coil domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:647309)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;25892735;26527144;32362381;33141586;35494241", "class_list": "", "function": "Regulator of DNA replication. Promotes initiation of chromosomal DNA replication by mediating TOPBP1- and CDK2-dependent recruitment of CDC45L onto replication origins (By similarity)., [UniProtKB]; The crystal structure of a GemC1 coiled-coil domain variant engineered for better solubility was determined to 2.2 A resolution., [RefSeq, PubMed]; Transcriptional regulation of multiciliated cell differentiation. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006260 DNA replication", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NCL1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDE8-1", "uniprot_id": [ { "id": "GG12H_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDE8", "type": "external" } ], "mass": 12924.0, "length": 117, "protein_name": "G antigen 12H", "gene_name": "GAGE12H", "organism": "Human", "refseq_name": "G antigen 12H", "refseq_ac": [ { "id": "NP_001091880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091880", "type": "external" } ], "gene_names_uniprotkb": "GAGE12H", "gene_names_refseq": "GAGE12H", "protein_names_uniprotkb": "G antigen 12H; GAGE-12H", "protein_names_refseq": "G antigen 12H; GAGE-12H", "tax_id": 9606, "disease": "", "pathway": " (hsa:729442)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "18179644;27600516;27869121", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NDE8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NEF3-1", "uniprot_id": [ { "id": "GG6L4_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NEF3", "type": "external" } ], "mass": 67563.0, "length": 574, "protein_name": "Golgin subfamily A member 6-like protein 4", "gene_name": "GOLGA6L4", "organism": "Human", "refseq_name": "golgin subfamily A member 6-like protein 4", "refseq_ac": [ { "id": "NP_001254465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254465", "type": "external" } ], "gene_names_uniprotkb": "GOLGA6L4", "gene_names_refseq": "GOLGA6L4", "protein_names_uniprotkb": "Golgin subfamily A member 6-like protein 4", "protein_names_refseq": "golgi autoantigen, golgin subfamily a, 6-like 4; golgin subfamily A member 6-like protein 4; putative golgin subfamily A member 6-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:643707)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;29557506", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6REZ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NEF3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGU5-1", "uniprot_id": [ { "id": "GGT3_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGU5", "type": "external" } ], "mass": 61502.0, "length": 568, "protein_name": "Putative glutathione hydrolase 3 proenzyme", "gene_name": "GGT3P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GGT3P; GGT3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative glutathione hydrolase 3 proenzyme; 2.3.2.2; 3.4.19.13; GGT 3; Gamma-glutamyltransferase 3; Putative gamma-glutamyltranspeptidase 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); aflatoxins-related hepatocellular carcinoma (Disease Ontology:DOID:5022)", "pathway": " (R-HSA-174403); (R-HSA-5423646); (R-HSA-9753281)", "pathway_count": 3, "publication_count": 65, "publication_id_list": "10369661;10741631;11409944;11714888;11904223;12144777;12473676;12727802;12933810;1504254;16385575;1643250;16696573;16970545;17627974;17924658;18232020;18357469;18416522;18515354;19109178;19463;19842618;20190787;21666065;21712391;22349737;22406294;23682772;2573352;25931127;26049587;26067475;29557506;29741879;31217245;31844290;32325220;32350084;32357974;32387766;32472168;3372534;3395122;35051231;35289036;3931076;6950087;70646;7469630;7646467;7764673;7766804;7826375;8439558;8703034;8812420;8813074;8975785;9024171;9080;9278457;9516961;9576847;9675072", "class_list": "", "function": "Hydrolyzes and transfers gamma-glutamyl moieties from glutathione and other gamma-glutamyl compounds to acceptors., [UniProtKB, UniProtKB]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.3.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.2", "type": "external" }, { "id": "3.4.19.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.13", "type": "external" }, { "id": "3.4.19.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.14", "type": "external" } ], "go_molecular_function": "GO:0036374 glutathione hydrolase activity;GO:0103068 leukotriene C4 gamma-glutamyl transferase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006750 glutathione biosynthetic process;GO:0006751 glutathione catabolic process;GO:0006508 proteolysis;GO:0002682 regulation of immune system process;GO:0050727 regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "A6NGU5-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MPY1-1", "uniprot_id": [ { "id": "GBRR3_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MPY1", "type": "external" } ], "mass": 54272.0, "length": 467, "protein_name": "Gamma-aminobutyric acid receptor subunit rho-3", "gene_name": "GABRR3", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit rho-3 precursor", "refseq_ac": [ { "id": "NP_001099050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099050", "type": "external" } ], "gene_names_uniprotkb": "GABRR3", "gene_names_refseq": "GABRR3", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit rho-3; GABA(A) receptor subunit rho-3; GABA(C) receptor; GABAAR subunit rho-3", "protein_names_refseq": "GABA(A) receptor subunit rho-3; GABA(C) receptor; GABAAR subunit rho-3; gamma-aminobutyric acid (GABA) A receptor, rho 3; gamma-aminobutyric acid receptor subunit rho-3 precursor; gamma-aminobutyric acid receptor subunit rho-3; gamma-aminobutyric acid type A receptor rho3 subunit", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:200959); (R-HSA-977443)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10.1101/2023.09.13.557529;10449790;10542332;1315307;1321750;15024690;15617751;1664410;17364682;17398006;18382465;1849271;19078961;19086053;19828786;20820800;2465923;2847710;29720720;8264558;8382267;8391122;8632757;8719414;8719416", "class_list": "", "function": "Found no significant differences in either the frequencies of the GABRR1-M26V, GABRR1- H27R, GABRR2-T455M, and GABRR3-Y205X genotypes or in the frequencies of the allelic variants of these polymorphisms in patients with essential tremor, [RefSeq, PubMed]; GABA(C) receptors are specifically involved in aspects of visual image motion processing in the rat brain, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Mol Psychiatry. 2010 Nov;15(11):1121], [RefSeq, PubMed]; Rho subunit of the pentameric ligand-gated chloride channels responsible for mediating the effects of gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain (By similarity). Rho-containing GABA-gated chloride channels are a subclass of GABA(A) receptors (GABAARs) entirely composed of rho subunits, where GABA molecules bind at the rho intersubunit interfaces (By similarity). When activated by GABA, rho-GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]., [RefSeq]; These results suggest association between GABRR3 rs832032 polymorphism and the risk for restless legs syndrome , and a modifier effect of GABRA4 rs2229940 on the age of onset of restless legs syndrome ., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 9420, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9UIV9", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0004890 GABA-A receptor activity;GO:0022851 GABA-gated chloride ion channel activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane;GO:0034707 chloride channel complex;GO:1902711 GABA-A receptor complex", "go_biological_process": "GO:0007214 gamma-aminobutyric acid signaling pathway;GO:0007268 chemical synaptic transmission;GO:1902476 chloride transmembrane transport;GO:0051932 synaptic transmission, GABAergic", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "A8MPY1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B5MD39-1", "uniprot_id": [ { "id": "GGTL3_HUMAN", "url": "https://www.uniprot.org/uniprot/B5MD39", "type": "external" } ], "mass": 24102.0, "length": 225, "protein_name": "Glutathione hydrolase light chain 3", "gene_name": "GGTLC3", "organism": "Human", "refseq_name": "glutathione hydrolase light chain 3", "refseq_ac": [ { "id": "NP_001342408", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342408", "type": "external" } ], "gene_names_uniprotkb": "GGTLC3", "gene_names_refseq": "GGTLC3; GGT", "protein_names_uniprotkb": "Glutathione hydrolase light chain 3; Gamma-glutamyltransferase light chain 3", "protein_names_refseq": "glutathione hydrolase light chain 3; putative gamma-glutamyltransferase light chain 3; putative glutathione hydrolase light chain 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:728226)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "18357469", "class_list": "", "function": "Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC3, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]., [RefSeq]; Likely to be catalytically inactive., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEA2", "ec_number_list": [], "go_molecular_function": "GO:0036374 glutathione hydrolase activity", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "GO:0006751 glutathione catabolic process;GO:1901750 leukotriene D4 biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "B5MD39-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H0YKK7-1", "uniprot_id": [ { "id": "GG6LS_HUMAN", "url": "https://www.uniprot.org/uniprot/H0YKK7", "type": "external" } ], "mass": 64493.0, "length": 550, "protein_name": "Putative golgin subfamily A member 6-like protein 19", "gene_name": "GOLGA6L19", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GOLGA6L19", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative golgin subfamily A member 6-like protein 19", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "H0YKK7-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60755-1", "uniprot_id": [ { "id": "GALR3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60755", "type": "external" } ], "mass": 39573.0, "length": 368, "protein_name": "Galanin receptor type 3", "gene_name": "GALR3", "organism": "Human", "refseq_name": "galanin receptor type 3", "refseq_ac": [ { "id": "NP_003605", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003605", "type": "external" } ], "gene_names_uniprotkb": "GALR3; GALNR3", "gene_names_refseq": "GALR3", "protein_names_uniprotkb": "Galanin receptor type 3; GAL3-R; GALR-3", "protein_names_refseq": "GAL3-R; GALR-3; galanin receptor type 3; galanin receptor, family member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:8484); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;23446738;23481700;23690594;24517231;24906252;2534964;25691535;2649896;2748346;27496565;2834384;28844939;29557506;31217245;3202875;32231393;32387766;3366244;35051231;3525564;35409094;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594;9928159", "class_list": "", "function": "Galanin Receptors (GalR1, GalR2, and GalR3) Expression in Colorectal Cancer Tissue and Correlations to the Overall Survival and Poor Prognosis of CRC Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular structures that confer ligand selectivity for galanin type II and III receptors Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the hormone galanin (PubMed:25691535). Receptor for the hormone spexin-1 (PubMed:24517231)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Study showed that galanin receptor 3 is present in endothelial cells in human and murine dermal vessels and is co-expressed with nestin in neo-vessels of psoriatic patients., [RefSeq, PubMed]; The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53YJ4", "ec_number_list": [], "go_molecular_function": "GO:0017046 peptide hormone binding;GO:0004966 galanin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0016020 membrane;GO:0045202 synapse;GO:0097731 9+0 non-motile cilium", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0007611 learning or memory;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "O60755-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95479-1", "uniprot_id": [ { "id": "G6PE_HUMAN", "url": "https://www.uniprot.org/uniprot/O95479", "type": "external" } ], "mass": 88893.0, "length": 791, "protein_name": "GDH/6PGL endoplasmic bifunctional protein", "gene_name": "H6PD", "organism": "Human", "refseq_name": "GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor", "refseq_ac": [ { "id": "NP_004276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004276", "type": "external" } ], "gene_names_uniprotkb": "H6PD; GDH", "gene_names_refseq": "CORTRD1; G6PDH; GDH; H6PDH; H6PD", "protein_names_uniprotkb": "GDH/6PGL endoplasmic bifunctional protein; 1.1.1.363; 1.1.1.47; GDH; Glucose 1-dehydrogenase; Glucose-6-phosphate dehydrogenase", "protein_names_refseq": "6-phosphogluconolactonase; G6PD, H form; GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor; GDH/6PGL endoplasmic bifunctional protein; glucose 1- dehydrogenase; glucose dehydrogenase; glucose dehyrogenase; glucose-6-phosphate dehydrogenase, salivary", "tax_id": 9606, "disease": "cortisone reductase deficiency (Disease Ontology:DOID:0090139); cortisone reductase deficiency 1 (Disease Ontology:DOID:0090141); multiple sclerosis (Disease Ontology:DOID:2377)", "pathway": " (hsa:9563)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10349511;10522997;11150889;12858176;15827106;16091483;16817821;17062770;18628520;19159218;23090970;23132696;23481700;24190977;25505266;25576301;25645385;26452272;26860459;26992070;27600516;27726376;27846572;27862975;28218747;28228285;28370139;28649982;28832583;28834231;29242379;29295867;29314611;29331515;29393594;29557506;29632711;29741879;29786170;29789417;30315122;30429286;31611695;31844290;32157095;32387766;32502341;32938616;32983136;33043033;33141586;33250514;33298915;33592498;33717175;33912179;33968037;34089345;34171305;34185709;34357683;34509645;34932366;35051231;35580925;36010968;36284347;37074911;37217939;38665916", "class_list": "glycogene", "function": "Bifunctional enzyme localized in the lumen of the endoplasmic reticulum that catalyzes the first two steps of the oxidative branch of the pentose phosphate pathway/shunt, an alternative to glycolysis and a major source of reducing power and metabolic intermediates for biosynthetic processes (By similarity). Has a hexose-6-phosphate dehydrogenase activity, with broad substrate specificity compared to glucose-6-phosphate 1-dehydrogenase/G6PD, and catalyzes the first step of the pentose phosphate pathway (PubMed:12858176, PubMed:18628520, PubMed:23132696). In addition, acts as a 6-phosphogluconolactonase and catalyzes the second step of the pentose phosphate pathway (By similarity). May have a dehydrogenase activity for alternative substrates including glucosamine 6-phosphate and glucose 6-sulfate (By similarity). The main function of this enzyme is to provide reducing equivalents such as NADPH to maintain the adequate levels of reductive cofactors in the oxidizing environment of the endoplasmic reticulum (PubMed:12858176, PubMed:18628520, PubMed:23132696). By producing NADPH that is needed by reductases of the lumen of the endoplasmic reticulum like corticosteroid 11-beta-dehydrogenase isozyme 1/HSD11B1, indirectly regulates their activity (PubMed:18628520)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Cortisol reduces glucose-6-phosphate (G6P) flux through H6PDH by increasing luminal NADPH, thereby allowing more G6P for hydrolysis via G6Pase, [RefSeq, PubMed]; Data indicate the tetramer as the most active form of glucose-6-phosphate dehydrogenase (G6PDH)., [RefSeq, PubMed]; Knockdown of H6PD resulted in an increase in ER lumen oxidation, and down-regulation of many components of the unfolded protein response, including the transcription factors activating transcription factor-4, activating transcription factor-6, split X-box binding protein-1, and CCAAT/enhancer binding protein homologous protein., [RefSeq, PubMed]; The G allele of rs6688832 in H6PD might exert potential genetic protective role against the development of PCOS, especially in overweight women. PCOS patients with AG genotype of rs6688832 might confer risk to the phenotype of hyperandrogenemia of PCOS. Publication Status: Online-Only, [RefSeq, PubMed]; There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor-suppressive microRNA-551b-3p targets H6PD to inhibit gallbladder cancer progression., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1124, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 20, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q4TT33;Q66I35;Q68DT3;R4GMU1", "ec_number_list": [ { "id": "3.1.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.31", "type": "external" }, { "id": "1.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.47", "type": "external" }, { "id": "1.1.1.363", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.363", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.1.1.49", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.49", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.179", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.179", "type": "external" }, { "id": "1.1.1.115", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.115", "type": "external" }, { "id": "1.1.1.119", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.119", "type": "external" }, { "id": "1.1.1.120", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.120", "type": "external" } ], "go_molecular_function": "GO:0017057 6-phosphogluconolactonase activity;GO:0030246 carbohydrate binding;GO:0004345 glucose-6-phosphate dehydrogenase activity;GO:0050661 NADP binding;GO:0047934 glucose 1-dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "GO:0097305 response to alcohol;GO:0031667 response to nutrient levels;GO:0009051 pentose-phosphate shunt, oxidative branch;GO:0006006 glucose metabolic process;GO:2000064 regulation of cortisol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "O95479-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01350-1", "uniprot_id": [ { "id": "GAST_HUMAN", "url": "https://www.uniprot.org/uniprot/P01350", "type": "external" } ], "mass": 11394.0, "length": 101, "protein_name": "Gastrin", "gene_name": "GAST", "organism": "Human", "refseq_name": "gastrin preproprotein", "refseq_ac": [ { "id": "NP_000796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000796", "type": "external" } ], "gene_names_uniprotkb": "GAST; GAS", "gene_names_refseq": "GAST; GAS", "protein_names_uniprotkb": "Gastrin; G17; G34; Gastrin component III; Gastrin component II; Gastrin component I; Gastrin-17; Gastrin-34", "protein_names_refseq": "gastrin preproprotein; preprogastrin", "tax_id": 9606, "disease": "", "pathway": " (hsa:2520); (R-HSA-416476); (R-HSA-881907)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "10.1074/mcp.M114.046862;10191087;10567430;10727532;10861009;11015615;11052986;11742120;11753430;12120503;15951850;16182515;16268778;16339447;16754659;16923326;18434541;18515384;18577758;18936096;1905813;25813380;2730647;2841328;3034736;3086311;3223964;34341100;36061351;37258205;38069171;5822140;5921183;6087340;6322186;6324077;6574456;6689486;7530658;7621822;7937899;8055952;8240296;8349705;8664309;9305846;9770463;9797370", "class_list": "", "function": "Anatomical basis of gastrin- and CCK-secreting cells and their functions. A review. Review article, [RefSeq, PubMed]; Correlation Study between Levels of Gastrin, Serum IGF-1, and GHBP and Growth and Development in Children with Short Stature Based on Big Data Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated Serum Gastrin Is Associated with Melanoma Progression: Putative Role in Increased Migration and Invasion of Melanoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Gastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17. [provided by RefSeq, Jul 2008]., [RefSeq]; Gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes. It also stimulates smooth muscle contraction and increases blood circulation and water secretion in the stomach and intestine., [UniProtKB]; Prevalence and predictors of colonoscopic findings in patients with autoimmune gastritis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P78463;P78464", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0032094 response to food", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P01350-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34903-1", "uniprot_id": [ { "id": "GBRA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P34903", "type": "external" } ], "mass": 55165.0, "length": 492, "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-3", "gene_name": "GABRA3", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor subunit alpha-3 precursor", "refseq_ac": [ { "id": "NP_000799", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000799", "type": "external" } ], "gene_names_uniprotkb": "GABRA3", "gene_names_refseq": "EPILX2; GABRA3", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor subunit alpha-3; GABA(A) receptor subunit alpha-3; GABAAR subunit alpha-3", "protein_names_refseq": "GABA(A) receptor subunit alpha-3; GABA(A) receptor, alpha 3; GABAAR subunit alpha-3; gamma-aminobutyric acid (GABA) A receptor, alpha 3; gamma-aminobutyric acid receptor subunit alpha-3 precursor; gamma-aminobutyric acid receptor subunit alpha-3; gamma-aminobutyric acid type A receptor alpha3 subunit; gamma-animobutyric acid (GABA) A receptor, alpha 3", "tax_id": 9606, "disease": "multiple sclerosis (Disease Ontology:DOID:2377); bipolar disorder (Disease Ontology:DOID:3312); epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features (MONDO:MONDO:0859564)", "pathway": " (hsa:2556); (R-HSA-977443)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;10449790;10542332;10602120;1315307;1321750;15024690;16412217;1664410;17364682;17398006;18382465;1849271;19828786;20112406;2465923;26613940;28121444;2847710;29053855;29557506;30779550;31154438;31324691;31593956;31610743;31841197;33592498;34171305;35051231;8264558;8382267;8391122;8632757;8719414;8719416", "class_list": "", "function": "Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:16412217, PubMed:29053855). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:16412217, PubMed:29053855). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (PubMed:16412217, PubMed:29053855)., [UniProtKB, PubMed, UniProtKB, PubMed]; Data indicate that the activation of CT-GABRA3 is correlated with that of MAGEA6. Therefore, MAGEA6 is linked with CT-GABRA3 through a bidirectional promoter., [RefSeq, PubMed]; GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; MiR-92b inhibited cells EMT by targeting Gabra3 and predicted prognosis of triple negative breast cancer patients., [RefSeq, PubMed]; The intracellular domain of GABRA3 and GABRB3 each contain essential anterograde trafficking signals that are required to overcome ER retention of assembled GABAA homo- or heteropentamers., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q8TAF9", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0004890 GABA-A receptor activity;GO:0008503 benzodiazepine receptor activity;GO:0022851 GABA-gated chloride ion channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0098794 postsynapse;GO:0034707 chloride channel complex;GO:0032590 dendrite membrane", "go_biological_process": "GO:0007214 gamma-aminobutyric acid signaling pathway;GO:1902476 chloride transmembrane transport;GO:0051932 synaptic transmission, GABAergic;GO:1904862 inhibitory synapse assembly", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P34903-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36268-1", "uniprot_id": [ { "id": "GGT2_HUMAN", "url": "https://www.uniprot.org/uniprot/P36268", "type": "external" } ], "mass": 61771.0, "length": 569, "protein_name": "Inactive glutathione hydrolase 2", "gene_name": "GGT2P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GGT2P; GGT2", "gene_names_refseq": "", "protein_names_uniprotkb": "Inactive glutathione hydrolase 2; GGT 2; Gamma-glutamyltransferase 2 pseudogene; Inactive gamma-glutamyltranspeptidase 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); aflatoxins-related hepatocellular carcinoma (Disease Ontology:DOID:5022)", "pathway": "", "pathway_count": 0, "publication_count": 13, "publication_id_list": "16534867;19159218;23682772;25418920;2573352;26791533;26929215;26992070;29741879;30779550;35051231;38253038;39894887", "class_list": "", "function": "Lacks catalytic activity due to its inability to undergo the autocatalytic cleavage needed to produce a mature, enzymatically active heterodimer., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 6, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006751 glutathione catabolic process;GO:0002682 regulation of immune system process;GO:0050727 regulation of inflammatory response;GO:1901750 leukotriene D4 biosynthetic process;GO:0031179 peptide modification", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P36268-1", "record_type": "protein", "filter_code": "1000000.0100110.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36269-1", "uniprot_id": [ { "id": "GGT5_HUMAN", "url": "https://www.uniprot.org/uniprot/P36269", "type": "external" } ], "mass": 62261.0, "length": 586, "protein_name": "Glutathione hydrolase 5 proenzyme", "gene_name": "GGT5", "organism": "Human", "refseq_name": "glutathione hydrolase 5 proenzyme isoform 1", "refseq_ac": [ { "id": "NP_001093251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093251", "type": "external" } ], "gene_names_uniprotkb": "GGT5; GGTLA1", "gene_names_refseq": "GGL; GGT 5; GGT-REL; GGT5; GGTLA1", "protein_names_uniprotkb": "Glutathione hydrolase 5 proenzyme; 2.3.2.2; 3.4.19.13; 3.4.19.14; GGT 5; GGT-rel; Gamma-glutamyl transpeptidase-related enzyme; Gamma-glutamyltransferase 5; Gamma-glutamyltransferase-like activity 1; Gamma-glutamyltranspeptidase 5; Leukotriene-C4 hydrolase", "protein_names_refseq": "gamma-glutamyl cleaving enzyme; gamma-glutamyl transpeptidase-related enzyme; gamma-glutamyl transpeptidase-related protein; gamma-glutamyltransferase-like activity 1; gamma-glutamyltranspeptidase 5; glutathione hydrolase 5 proenzyme isoform 1; glutathione hydrolase 5 proenzyme; leukotriene-C4 hydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:2687); (R-HSA-174403); (R-HSA-2142691); (R-HSA-5423646); (R-HSA-9664535); (R-HSA-9753281)", "pathway_count": 6, "publication_count": 131, "publication_id_list": "10.1101/2023.09.13.557529;10064732;10369661;10391245;10462554;10741631;10779545;10851239;11237011;11409944;11714888;11844797;11904223;12144777;12235216;12473676;12727802;12933810;1359745;1504254;15604543;16385575;1643250;16696573;1676842;16795963;16970545;17627974;17924658;18184802;18232020;18357469;18416522;18477386;1848634;18515354;18647347;19109178;19159218;19463;19743890;19842618;20190787;20436887;21447318;21666065;21712391;22349737;22406294;23076889;23682772;2573352;25931127;26049587;26067475;26992070;27046942;2753893;2768222;2836406;2864155;2866075;2877850;2882965;29133059;29557506;29667297;29786170;29789417;2995393;3006030;3020588;30429286;30459171;30669;30842656;31154438;3118366;3164719;31848261;32157095;32161166;32325220;32350084;32472168;32640421;32983136;33043033;3372534;3395122;33968037;34088745;34185709;35051231;35251023;35318648;35580925;3563417;36284347;37074911;37938771;38581025;38748299;3931076;3933675;6122208;6293969;6490615;6950087;70646;7469630;7646467;7764673;7766804;7826375;7937884;8052639;8394361;8439558;8576264;8703034;8812420;8813074;8975785;9024171;9080;9278457;9461497;9516961;9576847;9675072", "class_list": "", "function": "Abcc1 and Ggt5 support lymphocyte guidance through export and catabolism of S-geranylgeranyl-l-glutathione., [RefSeq, PubMed]; Cancer-associated fibroblasts-derived gamma-glutamyltransferase 5 promotes tumor growth and drug resistance in lung adenocarcinoma., [RefSeq, PubMed]; Cleaves the gamma-glutamyl bond of extracellular glutathione tripeptide (gamma-Glu-Cys-Gly) and certain glutathione conjugates (PubMed:1676842, PubMed:21447318). Hydrolyzes glutathione releasing L-Glu and Cys-Gly dipeptide which is further metabolized to maintain extracellular cysteine levels but also to provide cysteine necessary for intracellular glutathione synthesis (PubMed:1676842, PubMed:21447318). Among glutathione-S-conjugates metabolizes leukotriene C4 (LTC4) and S-geranylgeranyl-glutathione (GGG), but is inactive toward gamma-glutamyl leucine. Converts extracellular LTC4 to LTD4 during acute inflammatory response. Acts as a negative regulator of GGG bioactivity. GGT5 (via GGG catabolism) and ABCC1 (via extracellular transport) establish GGG gradients within lymphoid tissues to position P2RY8-positive lymphocytes at germinal centers in lymphoid follicles and restrict their chemotactic transmigration from blood vessels to bone marrow parenchyma (By similarity). The transpeptidation reaction, i.e. the transfer of gamma-glutamyl moiety to an acceptor molecule to yield a new gamma-glutamyl compound requires high concentration of dipeptide acceptor and is considered nonphysiological (PubMed:21447318, PubMed:29667297)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; GGT5 facilitates migration and invasion through the induction of epithelial-mesenchymal transformation in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; GGT5: a potential immunotherapy response inhibitor in gastric cancer by modulating GSH metabolism and sustaining memory CD8+ T cell infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 19, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q53XM9;Q6GMP0;Q96FC1;Q9UFM5", "ec_number_list": [ { "id": "2.3.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.2", "type": "external" }, { "id": "3.4.19.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.13", "type": "external" }, { "id": "3.4.19.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.14", "type": "external" } ], "go_molecular_function": "GO:0000048 peptidyltransferase activity;GO:0002951 leukotriene-C(4) hydrolase;GO:0036374 glutathione hydrolase activity;GO:0103068 leukotriene C4 gamma-glutamyl transferase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006750 glutathione biosynthetic process;GO:0006751 glutathione catabolic process;GO:0006508 proteolysis;GO:0006631 fatty acid metabolic process;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "P36269-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55107-1", "uniprot_id": [ { "id": "GDF10_HUMAN", "url": "https://www.uniprot.org/uniprot/P55107", "type": "external" } ], "mass": 53122.0, "length": 478, "protein_name": "Growth/differentiation factor 10", "gene_name": "GDF10", "organism": "Human", "refseq_name": "growth/differentiation factor 10 preproprotein", "refseq_ac": [ { "id": "NP_004953", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004953", "type": "external" } ], "gene_names_uniprotkb": "GDF10; BMP3B", "gene_names_refseq": "BIP; BMP-3b; BMP3B; GDF10", "protein_names_uniprotkb": "Growth/differentiation factor 10; BIP; BMP-3B; Bone morphogenetic protein 3B; Bone-inducing protein; GDF-10", "protein_names_refseq": "bone morphogenetic protein 3B; bone-inducing protein; growth/differentiation factor 10 preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:2662)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10.1101/2023.09.13.557529;16385451;18077449;24715725;31844290;33170806;33657265;34922336;35051231;35163719;38245533;8670277;8679252", "class_list": "", "function": "Cancer-associated fibroblasts promote tumor progression by lncRNA-mediated RUNX2/GDF10 signaling in oral squamous cell carcinoma., [RefSeq, PubMed]; GDF10 inhibits cell proliferation and epithelial-mesenchymal transition in nasopharyngeal carcinoma by the transforming growth factor-beta/Smad and NF-kappaB pathways., [RefSeq, PubMed]; Growth factor involved in osteogenesis and adipogenesis. Plays an inhibitory role in the process of osteoblast differentiation via SMAD2/3 pathway. Plays an inhibitory role in the process of adipogenesis., [UniProtKB, UniProtKB]; Mesenchymal Bmp3b expression maintains skeletal muscle integrity and decreases in age-related sarcopenia., [RefSeq, PubMed]; New hypoxia-inducible and SOX9-regulated genes, Gdf10 and Chm-I. In addition, Mig6 and InhbA were induced by hypoxia, predominantly via HIF-2alpha, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Reduced plasma GDF10 levels are positively associated with cholesterol impairment and childhood obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Single-Cell Analysis Uncovers Osteoblast Factor Growth Differentiation Factor 10 as Mediator of Vascular Smooth Muscle Cell Phenotypic Modulation Associated with Plaque Rupture in Human Carotid Artery Disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This promotes neural repair after stroke. Additionally, this protein may act as a tumor suppressor and reduced expression of this gene is associated with oral cancer. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5VSQ8;Q9UCX6", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0001501 skeletal system development;GO:0045444 fat cell differentiation;GO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway;GO:0045669 positive regulation of osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "P55107-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62684-1", "uniprot_id": [ { "id": "GA113_HUMAN", "url": "https://www.uniprot.org/uniprot/P62684", "type": "external" } ], "mass": 74183.0, "length": 666, "protein_name": "Endogenous retrovirus group K member 113 Gag polyprotein", "gene_name": "HERVK_113", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HERVK_113", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 113 Gag polyprotein; Gag polyprotein; HERV-K113 Gag protein; HERV-K_19p13.11 provirus ancestral Gag polyprotein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11591322;7983737", "class_list": "", "function": "The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005198 structural molecule activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0075523 viral translational frameshifting", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P62684-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02742-1", "uniprot_id": [ { "id": "GCNT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02742", "type": "external" } ], "mass": 49799.0, "length": 428, "protein_name": "Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase", "gene_name": "GCNT1", "organism": "Human", "refseq_name": "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase", "refseq_ac": [ { "id": "NP_001091102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091102", "type": "external" } ], "gene_names_uniprotkb": "GCNT1; NACGT2", "gene_names_refseq": "C2GNT-L; C2GNT1; C2GNT; C2GlcNAcT; G6NT; GCNT1; NACGT2; NAGCT2", "protein_names_uniprotkb": "Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase; 2.4.1.102; C2GNT; C2GlcNAcT; C2GnT-L; Core 2 GNT; Core 2 beta-1,6-N-acetylglucosaminyltransferase; Core 2-branching enzyme; Core2-GlcNAc-transferase; Leukocyte type core 2 beta-1,6-N-acetylglucosaminyltransferase", "protein_names_refseq": "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase; beta-1,6-N-acetylglucosaminyltransferase; core 2 GnT; core 2 beta-1,6-N-acetylglucosaminyltransferase I; core 2 beta1,6 N-acetylglucosaminyltransferase-I; core 2 branching enzyme; core2-GlcNAc-transferase; glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase); leukocyte type core 2 beta-1,6-N-acetylglucosaminyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:2650); (R-HSA-913709)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;10330415;10430883;10753916;11042166;11283017;11304796;11821425;12626388;12855678;1329093;15486459;15560372;15620693;15926890;17113861;18537974;22183981;22544926;23027862;23090970;24190977;24643043;24715725;24854630;25086069;26390303;26768364;28832583;29242379;29493099;30429286;31154438;32350084;32387766;32502341;32897882;32938616;32983136;33592498;33968037;34171305;34509645;35051231;35154160;35318648;35580925;36010968;37813880;7579796;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "GCNT1 expression in prostate biopsy specimen is a significant and independent predictor of recurrence after radical prostatectomy, which can be used in pre-treatment decision making for the patient., [RefSeq, PubMed]; GCNT1 expression in prostate cancer positively correlates with cancer progression and prostate-specific antigen recurrence. Publication Status: Online-Only, [RefSeq, PubMed]; GCNT1 is over-expressed in prostate cancer and is associated with higher levels of core 2 O-sLe(x) in PSA, PAP and MUC1 proteins., [RefSeq, PubMed]; Glycosyltransferase that catalyzes the transfer of an N-acetylglucosamine (GlcNAc) moiety in beta1-6 linkage from UDP-GlcNAc onto mucin-type core 1 O-glycan to form the branched mucin-type core 2 O-glycan (PubMed:1329093, PubMed:23027862). The catalysis is metal ion-independent and occurs with inversion of the anomeric configuration of sugar donor (By similarity). Selectively involved in synthesis of mucin-type core 2 O-glycans that serve as scaffolds for the display of selectin ligand sialyl Lewis X epitope by myeloid cells, with an impact on homeostasis and recruitment to inflammatory sites (By similarity). Can also act on glycolipid substrates. Transfers GlcNAc moiety to GalGb4Cer globosides in a reaction step to the synthesis of stage-specific embryonic antigen 1 (SSEA-1) determinant (By similarity). Can use Galbeta1-3GalNAcalpha1- and Galbeta1-3GalNAcbeta1- oligosaccharide derivatives as acceptor substrates (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Presence of multiple tissue-specific promoters for the C2GnT I gene, [RefSeq, PubMed]; Results show that ST3Gal1 uses GM130-GRASP65 and giantin, whereas C2GnT-L uses only giantin for Golgi targeting and defective giantin dimerization in PC-3 and DU145 prostate cancer cells causes fragmentation of the Golgi and prevents its targeting., [RefSeq, PubMed]; The role of GCNT1 mediated O-glycosylation in aggressive prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 503, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6DJZ4", "ec_number_list": [ { "id": "2.4.1.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.102", "type": "external" }, { "id": "2.4.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.150", "type": "external" }, { "id": "2.4.1.148", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.148", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0003829 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane;GO:0016607 nuclear speck;GO:0005802 trans-Golgi network;GO:0031985 Golgi cisterna", "go_biological_process": "GO:1903238 positive regulation of leukocyte tethering or rolling;GO:0009101 glycoprotein biosynthetic process;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0050901 leukocyte tethering or rolling;GO:0060352 cell adhesion molecule production", "synthesized_glycan_count": 2877, "hit_score": 6.1, "record_id": "Q02742-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000100000000.110.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06210-1", "uniprot_id": [ { "id": "GFPT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06210", "type": "external" } ], "mass": 78806.0, "length": 699, "protein_name": "Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1", "gene_name": "GFPT1", "organism": "Human", "refseq_name": "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform 1", "refseq_ac": [ { "id": "NP_001231639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231639", "type": "external" } ], "gene_names_uniprotkb": "GFPT1; GFAT; GFPT", "gene_names_refseq": "CMS12; CMSTA1; GFAT 1; GFAT1m; GFAT1; GFAT; GFA; GFPT1L; GFPT1; GFPT; MSLG", "protein_names_uniprotkb": "Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; 2.6.1.16; D-fructose-6-phosphate amidotransferase 1; GFAT 1; GFAT1; Glutamine:fructose-6-phosphate amidotransferase 1; Hexosephosphate aminotransferase 1", "protein_names_refseq": "D-fructose-6-phosphate amidotransferase 1; glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1; glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform 1; glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; glutamine:fructose-6-phosphate amidotransferase 1; hexosephosphate aminotransferase 1", "tax_id": 9606, "disease": "congenital myasthenic syndrome 12 (Disease Ontology:DOID:0110660); familial hyperlipidemia (Disease Ontology:DOID:1168); Machado-Joseph disease (Disease Ontology:DOID:1440); hyperinsulinism (Disease Ontology:DOID:2018); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); congenital myasthenic syndrome with tubular aggregates (MONDO:MONDO:0000182)", "pathway": " (hsa:2673); (R-HSA-381038); (R-HSA-4085023); (R-HSA-446210)", "pathway_count": 4, "publication_count": 131, "publication_id_list": "10.1101/2023.09.13.557529;10198162;10601334;10824116;10827079;11237011;11679416;11707391;11726282;12174217;12204115;12467753;1460020;15466936;16461360;16539657;16964243;17010375;17081983;17941647;18318008;18664523;18669648;18675810;19059404;19170765;19690332;21073341;21282569;21310273;22692205;22869377;23186163;23301498;23783831;24275569;24366607;25418920;25502872;25576301;25645385;25810538;25880248;25892735;26154972;26375851;26811146;26887390;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29317506;29393594;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30397120;30410026;30429286;30635494;31844290;32019926;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33897873;33912179;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34229054;34357683;34433824;34561969;34725712;34932366;35051231;35138101;35229715;35318648;35561310;35580925;36010968;36040914;36215666;36241641;36284347;36581221;37938771;38665916;38732103;40307207;40914422;7590364;8664562;8666242;9037597;9450183;9473480;9634482;9990133", "class_list": "glycogene", "function": "GFPT1 promotes the proliferation of cervical cancer via regulating the ubiquitination and degradation of PTEN., [RefSeq, PubMed]; Overexpression of Fatty Acid Synthase Upregulates Glutamine-Fructose-6-Phosphate Transaminase 1 and O-Linked N-Acetylglucosamine Transferase to Increase O-GlcNAc Protein Glycosylation and Promote Colorectal Cancer Growth. Publication Status: Online-Only, [RefSeq, PubMed]; Rate-limiting enzyme of the hexosamine biosynthetic pathway (HBP) that catalyzes the formation of glucosamine-6-phosphate from fructose-6-phosphate and glutamine, thereby controlling the flux of glucose into this pathway (PubMed:32019926, PubMed:35229715). Inhibited by UDP-N-acetylglucosamine (UDP-GlcNAc) through a feedback loop (PubMed:32019926, PubMed:35229715). Fine-tunes the metabolic fluctuations of UDP-GlcNAc and its impacts on hyaluronan synthesis during tissue remodeling (PubMed:26887390). Via control of the HPB, regulates the availability of precursors for N- and O-linked protein glycosylation and modulates peripheral clock oscillation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 587, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q53QE6;Q9BXF8", "ec_number_list": [ { "id": "2.6.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.16", "type": "external" } ], "go_molecular_function": "GO:0004360 glutamine-fructose-6-phosphate transaminase (isomerizing) activity;GO:0097367 carbohydrate derivative binding", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006112 energy reserve metabolic process;GO:0006487 protein N-linked glycosylation;GO:0006048 UDP-N-acetylglucosamine biosynthetic process;GO:0032922 circadian regulation of gene expression;GO:0006047 UDP-N-acetylglucosamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q06210-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14390-1", "uniprot_id": [ { "id": "GGTL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14390", "type": "external" } ], "mass": 23661.0, "length": 218, "protein_name": "Glutathione hydrolase light chain 2", "gene_name": "GGTLC2", "organism": "Human", "refseq_name": "glutathione hydrolase light chain 2 isoform 3", "refseq_ac": [ { "id": "NP_001269808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269808", "type": "external" } ], "gene_names_uniprotkb": "GGTLC2; GGTL4", "gene_names_refseq": "GGTL4; GGTLC2", "protein_names_uniprotkb": "Glutathione hydrolase light chain 2; Gamma-glutamyltransferase light chain 2; Gamma-glutamyltransferase-like protein 4", "protein_names_refseq": "gamma-glutamyltransferase-like 4; gamma-glutamyltransferase-like protein 4; glutathione hydrolase light chain 2 isoform 3; glutathione hydrolase light chain 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:91227)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;17207965;18357469;18477386;24190977;29557506;29741879;34171305;8830654;9074928", "class_list": "", "function": "This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 8851, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1A516;A2VCM9;Q5NV76;Q6ISH0", "ec_number_list": [], "go_molecular_function": "GO:0036374 glutathione hydrolase activity", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "GO:0006751 glutathione catabolic process;GO:1901750 leukotriene D4 biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q14390-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6KF10-1", "uniprot_id": [ { "id": "GDF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6KF10", "type": "external" } ], "mass": 50662.0, "length": 455, "protein_name": "Growth/differentiation factor 6", "gene_name": "GDF6", "organism": "Human", "refseq_name": "growth/differentiation factor 6 preproprotein", "refseq_ac": [ { "id": "NP_001001557", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001557", "type": "external" } ], "gene_names_uniprotkb": "GDF6; BMP13; GDF16", "gene_names_refseq": "BMP-13; BMP13; CDMP2; GDF6; KFM; KFS1; KFSL; KFS; SGM1; SYNS4", "protein_names_uniprotkb": "Growth/differentiation factor 6; BMP-13; Bone morphogenetic protein 13; GDF-6; Growth/differentiation factor 16", "protein_names_refseq": "bone morphogenetic protein 13; growth/differentiation factor 16; growth/differentiation factor 6 preproprotein", "tax_id": 9606, "disease": "isolated microphthalmia 4 (Disease Ontology:DOID:0060836); autosomal recessive nonsyndromic deafness 118 (Disease Ontology:DOID:0070672); Klippel-Feil syndrome 1 (Disease Ontology:DOID:0080589); multiple synostoses syndrome 4 (Disease Ontology:DOID:0081320); Leber congenital amaurosis 17 (Disease Ontology:DOID:0110217); Klippel-Feil syndrome (Disease Ontology:DOID:10426); microphthalmia (Disease Ontology:DOID:10629); cleft palate (Disease Ontology:DOID:674); cleft lip (Disease Ontology:DOID:9296)", "pathway": " (hsa:392255)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "18425797;19129173;19864492;23307924;24033328;26643732;29130651;29371260;32369452;34440463;34573339;35051231;35442524;38087057", "class_list": "", "function": "A novel DNA methylation signature revealed GDF6 and RCC1 as potential prognostic biomarkers correlated with cell proliferation in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Bone morphogenetic protein 13 in hepatic stellate cells and hepatic fibrosis., [RefSeq, PubMed]; GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment. Publication Status: Online-Only, [RefSeq, PubMed]; Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map (PubMed:23307924). Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal structures. Seems to positively regulate differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG (PubMed:26643732). Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; SiRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6PI58", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006915 apoptotic process;GO:0045893 positive regulation of DNA-templated transcription;GO:0030509 BMP signaling pathway;GO:0045444 fat cell differentiation;GO:0032332 positive regulation of chondrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q6KF10-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4P5-1", "uniprot_id": [ { "id": "GDF7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4P5", "type": "external" } ], "mass": 46950.0, "length": 450, "protein_name": "Growth/differentiation factor 7", "gene_name": "GDF7", "organism": "Human", "refseq_name": "growth/differentiation factor 7 preproprotein", "refseq_ac": [ { "id": "NP_878248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_878248", "type": "external" } ], "gene_names_uniprotkb": "GDF7", "gene_names_refseq": "BMP12; GDF7", "protein_names_uniprotkb": "Growth/differentiation factor 7; GDF-7", "protein_names_refseq": "GDF-7; growth/differentiation factor 7 preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:151449)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12741987;20102312;26783083;28214472;29557506;29632711;33388417;33392160;34408239;35051231;37217939;37798809;38253038", "class_list": "", "function": "BMP-12 activates tenogenic pathway in human adipose stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Growth differentiation factor 7 autocrine signaling promotes hepatic progenitor cell expansion in liver fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; In mouse, the expression of Gdf7 in roof plate cells is required for the fidelity of commissural axon growth., [RefSeq, PubMed]; May play an active role in the motor area of the primate neocortex., [UniProtKB]; Secretome screening reveals immunomodulating functions of IFNalpha-7, PAP and GDF-7 on regulatory T-cells. Publication Status: Online-Only, [RefSeq, PubMed]; Stimulates expression of both chondrogenic and osteoblstic markers in pluripotent mesenchymal C3H10T1/2 cells., [RefSeq, PubMed]; TET-dependent GDF7 hypomethylation impairs aqueous humor outflow and serves as a potential therapeutic target in glaucoma., [RefSeq, PubMed]; The Barrett-associated variants at GDF7 and TBX5 also increase esophageal adenocarcinoma risk., [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0045893 positive regulation of DNA-templated transcription;GO:0030509 BMP signaling pathway;GO:0032924 activin receptor signaling pathway;GO:2001051 positive regulation of tendon cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q7Z4P5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8V2-1", "uniprot_id": [ { "id": "GBP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8V2", "type": "external" } ], "mass": 72513.0, "length": 638, "protein_name": "Guanylate-binding protein 7", "gene_name": "GBP7", "organism": "Human", "refseq_name": "guanylate-binding protein 7", "refseq_ac": [ { "id": "NP_997281", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997281", "type": "external" } ], "gene_names_uniprotkb": "GBP7; GBP4L", "gene_names_refseq": "GBP4L; GBP7", "protein_names_uniprotkb": "Guanylate-binding protein 7; 3.6.1.-; 3.6.5.-; GBP-7; GTP-binding protein 7; Guanine nucleotide-binding protein 7; Guanylate-binding protein 4-like", "protein_names_refseq": "GBP-7; GTP-binding protein 7; guanine nucleotide-binding protein 7; guanylate-binding protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:388646); (R-HSA-877300)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10067896;10986460;11237011;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;18362138;18591661;20049711;20130243;20304997;20363976;20459687;22706990;23061660;24417533;28063628;28228285;28514659;28832583;28904123;29242379;29331515;29393594;29508533;29557506;29632046;29769354;29786170;30524438;31092671;31844290;32157095;32357974;32938616;32983136;33239784;33408175;33912179;33936100;33968037;34185709;35051231;35494241;35580925;37938771;40914422;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]., [RefSeq]; Inducible Guanylate-Binding Protein 7 Facilitates Influenza A Virus Replication by Suppressing Innate Immunity via NF-kappaB and JAK-STAT Signaling Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon (IFN)-inducible GTPase that plays important roles in innate immunity against a diverse range of bacterial, viral and protozoan pathogens (By similarity). Hydrolyzes GTP to GMP in two consecutive cleavage reactions and predominantly uses GTP and not GDP or GMP as the substrate (By similarity). Following infection, recruited to the pathogen-containing vacuoles or vacuole-escaped bacteria and acts as a positive regulator of inflammasome assembly by promoting the release of inflammasome ligands from bacteria (By similarity). Acts by promoting lysis of pathogen-containing vacuoles, releasing pathogens into the cytosol (By similarity). Following pathogen release in the cytosol, promotes recruitment of proteins that mediate bacterial cytolysis: this liberates ligands that are detected by inflammasomes, such as lipopolysaccharide (LPS) that activates the non-canonical CASP4/CASP11 inflammasome or double-stranded DNA (dsDNA) that activates the AIM2 inflammasome (By similarity). Also promotes IFN-gamma-mediated host defense against bacterial infections by regulating oxidative responses and bacteriolytic peptide generation (By similarity). May help to assemble NADPH oxidase on phagosomal membranes by acting as a bridging protein between NADPH oxidase cytosolic subunits NCF2-NCF4 and the membrane subunits CYBA-CYBB (By similarity). Participates along with GBP1 in trafficking monoubiquitinated protein cargo to autolysosomes for generating ubiquitin-derived antimicrobial peptides (By similarity). Facilitates influenza A virus replication by inhibiting the activation of NF-kappaB and JAK-STAT signaling pathways and the expression of type I, type III interferons and pro-inflammatory cytokines (PubMed:33408175). Confers protection to several pathogens, including the bacterial pathogens Listeria monocytogenes and Mycobacterium bovis BCG as well as the protozoan pathogen Toxoplasma gondii (By similarity). Required for disruption of the parasitophorous vacuole formed following T.gondii infection and subsequent killing of the parasite (By similarity)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0030659 cytoplasmic vesicle membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0050830 defense response to Gram-positive bacterium;GO:0051607 defense response to virus;GO:0042742 defense response to bacterium;GO:0071346 cellular response to type II interferon;GO:0043122 regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q8N8V2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEA6-1", "uniprot_id": [ { "id": "GLIS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEA6", "type": "external" } ], "mass": 83636.0, "length": 775, "protein_name": "Zinc finger protein GLIS3", "gene_name": "GLIS3", "organism": "Human", "refseq_name": "zinc finger protein GLIS3 isoform a", "refseq_ac": [ { "id": "NP_001035878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035878", "type": "external" } ], "gene_names_uniprotkb": "GLIS3; ZNF515", "gene_names_refseq": "GLIS3; NDH; ZNF515", "protein_names_uniprotkb": "Zinc finger protein GLIS3; GLI-similar 3; Zinc finger protein 515", "protein_names_refseq": "GLI-similar 3; OK/KNS-cl.4; zinc finger protein 515; zinc finger protein GLIS3 isoform a; zinc finger protein GLIS3", "tax_id": 9606, "disease": "neonatal diabetes mellitus with congenital hypothyroidism (Disease Ontology:DOID:0060638); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:169792)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;14500813;16715098;18519826;21139041;29557506;31217245;31844290;33592498;33968037;35051231;36010968;36241641;36724950;37651918;38051360;38459513;38888423", "class_list": "", "function": "Acts both as a repressor and an activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity)., [UniProtKB]; CircGLIS3 promotes gastric cancer progression by regulating the miR-1343-3p/PGK1 pathway and inhibiting vimentin phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; GLIS Family Zinc Finger 3 Promotes Triple-Negative Breast Cancer Progression by Inducing Cell Proliferation, Migration and Invasion, and Activating the NF-kappaB Signaling Pathway., [RefSeq, PubMed]; GLIS3, a novel prognostic indicator of gastric adenocarcinoma, contributes to the malignant biological behaviors of tumor cells via modulating TGF-beta1/TGFbetaR1/Smad1/5 signaling pathway., [RefSeq, PubMed]; Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas., [RefSeq, PubMed]; Results demonstrate a major role for GLIS3 in the development of pancreatic beta cells and the thyroid, eye, liver and kidney, [RefSeq, PubMed]; This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Variations in the LINGO2 and GLIS3 Genes and Gene-Environment Interactions Increase Gestational Diabetes Mellitus Risk in Chinese Women., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AL19;Q1PHK5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8NEA6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEQ6-1", "uniprot_id": [ { "id": "GEMI5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEQ6", "type": "external" } ], "mass": 168589.0, "length": 1508, "protein_name": "Gem-associated protein 5", "gene_name": "GEMIN5", "organism": "Human", "refseq_name": "gem-associated protein 5 isoform 2", "refseq_ac": [ { "id": "NP_001239085", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239085", "type": "external" } ], "gene_names_uniprotkb": "GEMIN5", "gene_names_refseq": "GEMIN-5; GEMIN5; NEDCAM", "protein_names_uniprotkb": "Gem-associated protein 5; Gemin5", "protein_names_refseq": "gem-associated protein 5 isoform 2", "tax_id": 9606, "disease": "cerebellar ataxia (Disease Ontology:DOID:0050753); neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (Disease Ontology:DOID:0070443)", "pathway": " (hsa:25929); (R-HSA-191859); (R-HSA-9754678)", "pathway_count": 3, "publication_count": 138, "publication_id_list": "10531003;10556282;10601333;10725331;10851237;11333016;11714716;11748230;12065586;12095920;12441251;12776181;15302935;16314521;16857593;16964243;17081983;17178713;18077418;18245461;18452278;18491316;18669648;18691976;18984161;19377484;19651622;19664994;19691289;19750007;19838190;20068231;20513430;21406692;23186163;23301498;24715725;25505266;25576301;25880248;25911097;26154972;26811146;26992070;27507887;27834343;27846572;27862975;27881600;27881601;28510447;28514659;28657654;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30059200;30315122;30379171;30410026;30429286;30484775;30620550;31217245;31844290;32119511;32157095;32265295;32357974;32387766;32488085;32502341;32680882;32897882;32908316;32938616;32938750;32983136;32995776;32995777;33080218;33188728;33214551;33268501;33298915;33479166;33592498;33633747;33717175;33912179;33936100;33963192;33968037;33981976;34019948;34087483;34171305;34185709;34315815;34357683;34373319;34624207;34725712;34846842;34932366;35051231;35083852;35132862;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36581221;36610391;37340703;37541260;37938771;38316953;38665916;38773790;39194147;39302247;40307207;40596516;8196654;9845364", "class_list": "", "function": "Alternative splicing events driven by altered levels of GEMIN5 undergo translation., [RefSeq, PubMed]; Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies., [RefSeq, PubMed]; Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment., [RefSeq, PubMed]; The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:16857593, PubMed:18984161, PubMed:20513430, PubMed:33963192). Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161). To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate (PubMed:18984161). Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP. Within the SMN complex, GEMIN5 recognizes and delivers the small nuclear RNAs (snRNAs) to the SMN complex (PubMed:11714716, PubMed:16314521, PubMed:16857593, PubMed:19377484, PubMed:19750007, PubMed:20513430, PubMed:27834343, PubMed:27881600, PubMed:27881601). Binds to the 7-methylguanosine cap of RNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref.27). Binds to the 3'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability (PubMed:25911097). May play a role in the regulation of protein synthesis via its interaction with ribosomes (PubMed:27507887)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The data provide the first demonstration that alterations in the expression of Gemin5, a spliceosome protein, can effect both specific splicing events and tumor cell motility., [RefSeq, PubMed]; This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; We report the identification of an additional component of the SMN complex, a novel WD repeat protein termed Gemin5. Gemin5 binds SMN directly and is a component of the SMN complex, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q14CV0;Q8WWV4;Q969W4;Q9H9K3;Q9UFI5", "ec_number_list": [], "go_molecular_function": "GO:0030621 U4 snRNA binding;GO:0003723 RNA binding;GO:0043022 ribosome binding;GO:0000340 RNA 7-methylguanosine cap binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006417 regulation of translation;GO:0006412 translation;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q8TEQ6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92616-1", "uniprot_id": [ { "id": "GCN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92616", "type": "external" } ], "mass": 292710.0, "length": 2671, "protein_name": "Stalled ribosome sensor GCN1", "gene_name": "GCN1", "organism": "Human", "refseq_name": "stalled ribosome sensor GCN1", "refseq_ac": [ { "id": "NP_006827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006827", "type": "external" } ], "gene_names_uniprotkb": "GCN1; GCN1L1; KIAA0219", "gene_names_refseq": "GCN1L1; GCN1L; GCN1; PRIC295", "protein_names_uniprotkb": "Stalled ribosome sensor GCN1; GCN1 eIF-2-alpha kinase activator homolog; GCN1-like protein 1; General control of amino-acid synthesis 1-like protein 1; HsGCN1; Translational activator GCN1", "protein_names_refseq": "GCN1 (general control of amino-acid synthesis 1, yeast)-like 1; GCN1 eIF-2-alpha kinase activator homolog; GCN1 general control of amino-acid synthesis 1-like 1; GCN1, eIF2 alpha kinase activator homolog; GCN1-like protein 1; eIF-2-alpha kinase activator GCN1; general control of amino-acid synthesis 1-like protein 1; hsGCN1; peroxisome proliferator activated receptor interacting complex protein; stalled ribosome sensor GCN1; translational activator GCN1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10985); (R-HSA-9633012)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10982836;11018027;11677247;11691921;1400365;14630918;15385533;15775988;15781252;16026328;16408927;16989641;17081983;17267404;17287340;17726049;18285520;18691976;19651622;20068230;20068231;20361218;21872626;22223895;22544926;23186163;23269699;23301498;25418920;25489052;25645385;26853435;26929215;27526673;27920218;28063628;28228285;28510447;28514659;28832583;28834231;29242379;29393594;29413899;29632046;29786170;30192525;30315122;30418433;30524438;30804176;31092671;31154438;32610081;33214551;34019948;34725712;35083852;35138101;36215666;36284347;36638793;37651229;37938771;37951215;37951216;38474243;38665916;40914422;8336711;9211906;9234705", "class_list": "", "function": "Emerging Role of GCN1 in Disease and Homeostasis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Ribosome collision sensor that plays a key role in the RNF14-RNF25 translation quality control pathway, a pathway that takes place when a ribosome has stalled during translation, and which promotes ubiquitination and degradation of translation factors on stalled ribosomes (PubMed:32610081, PubMed:36638793, PubMed:37651229, PubMed:37951215, PubMed:37951216). Directly binds to the ribosome and acts as a sentinel for colliding ribosomes: activated following ribosome stalling and promotes recruitment of RNF14, which directly ubiquitinates EEF1A1/eEF1A, leading to its degradation (PubMed:36638793, PubMed:37951215, PubMed:37951216). In addition to EEF1A1/eEF1A, the RNF14-RNF25 translation quality control pathway mediates degradation of ETF1/eRF1 and ubiquitination of ribosomal protein (PubMed:36638793, PubMed:37651229). GCN1 also acts as a positive activator of the integrated stress response (ISR) by mediating activation of EIF2AK4/GCN2 in response to amino acid starvation (By similarity). Interaction with EIF2AK4/GCN2 on translating ribosomes stimulates EIF2AK4/GCN2 kinase activity, leading to phosphorylation of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) (By similarity). EIF2S1/eIF-2-alpha phosphorylation converts EIF2S1/eIF-2-alpha into a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, and thus to a reduced overall utilization of amino acids, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8KAY1;O95001;O95651;Q6P2S3;Q86X65;Q8N5I5;Q8WU80;Q99736;Q9UE60", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0008135 translation factor activity, RNA binding;GO:0019887 protein kinase regulator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0005840 ribosome;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0006417 regulation of translation;GO:0034198 cellular response to amino acid starvation;GO:0140469 GCN2-mediated signaling;GO:0160127 protein-RNA covalent cross-linking repair", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q92616-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A11-1", "uniprot_id": [ { "id": "G3ST3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A11", "type": "external" } ], "mass": 48956.0, "length": 431, "protein_name": "Galactose-3-O-sulfotransferase 3", "gene_name": "GAL3ST3", "organism": "Human", "refseq_name": "galactose-3-O-sulfotransferase 3", "refseq_ac": [ { "id": "NP_149025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149025", "type": "external" } ], "gene_names_uniprotkb": "GAL3ST3", "gene_names_refseq": "GAL3ST-3; GAL3ST2; GAL3ST3", "protein_names_uniprotkb": "Galactose-3-O-sulfotransferase 3; 2.8.2.-; Beta-galactose-3-O-sulfotransferase 3; Gal-beta-1, 3-GalNAc 3'-sulfotransferase 3; Gal3ST-3; Gal3ST3", "protein_names_refseq": "beta-galactose-3-O-sulfotransferase 3; gal-beta-1, 3-GalNAc 3'-sulfotransferase 3; galactose 3'-sulfotransferase; galactose-3-O-sulfotransferase 3; galbeta1-3GalNAc 3'-sulfotransferase 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:89792)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11323440;11356829;14701868;35051231", "class_list": "glycogene", "function": "Catalyzes the transfer of a sulfate group from 3'-phosphoadenylyl sulfate (PAPS) to the C-3 hydroxyl group of terminal non-reducing beta-1,4-linked galactose residues in both N-glycans and O-glycans (PubMed:11323440, PubMed:11356829, PubMed:14701868). It acts efficiently on type 2 chains (Gal-beta-1,4-GlcNAc-R) found in N-glycans and core 2-branched O-glycans (Gal-beta-1,4-GlcNAc-beta-1,6(Gal-beta-1,3)GalNAc-R) (PubMed:11323440, PubMed:11356829, PubMed:14701868). In contrast, it shows poor activity on type 1 chains (Gal-beta-1,3-GlcNAc-R) and intermediate activity on core 1 structures (Gal-beta-1,3-GalNAc-R) (PubMed:11323440, PubMed:11356829). Participates in the glycoconjugates sulfation namely the 3'-sulfated Lewis X epitope (Gal-beta-1,4(Fuc-alpha-1,3)GlcNAc), by sulfating N-acetyllactosamine (Gal-beta-1,4-GlcNAc) at the 3' position; then the resulting modification is fucosylated by FUT5 (PubMed:11356829)., [UniProtKB, PubMed, PubMed, PubMed]; Gal3ST-2 and LS180 sulfotransferase is a substrate for the globo H backbone; Gal3ST-3 is a substrate for N-glycan multiterminal Galbeta1, [RefSeq, PubMed]; This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the 3' position of galactose in N-acetyllactosamine in both type 2 (Gal-beta-1-4GlcNAc-R) oligosaccharides and core-2-branched O-glycans, but not on type 1 or core-1-branched structures. This gene, which has also been referred to as GAL3ST2, is different from the GAL3ST2 gene located on chromosome 2 that encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 3. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 741, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q14D05", "ec_number_list": [], "go_molecular_function": "GO:0050656 3'-phosphoadenosine 5'-phosphosulfate binding;GO:0030246 carbohydrate binding;GO:0050694 galactose 3-O-sulfotransferase activity;GO:0050698 proteoglycan sulfotransferase activity;GO:0001733 galactosylceramide sulfotransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0009247 glycolipid biosynthetic process;GO:0009311 oligosaccharide metabolic process;GO:0006790 sulfur compound metabolic process;GO:0005996 monosaccharide metabolic process;GO:0030309 poly-N-acetyllactosamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96A11-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CW5-1", "uniprot_id": [ { "id": "GCP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CW5", "type": "external" } ], "mass": 103571.0, "length": 907, "protein_name": "Gamma-tubulin complex component 3", "gene_name": "TUBGCP3", "organism": "Human", "refseq_name": "gamma-tubulin complex component 3 isoform 2", "refseq_ac": [ { "id": "NP_001273206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273206", "type": "external" } ], "gene_names_uniprotkb": "TUBGCP3; GCP3", "gene_names_refseq": "104p; ALP6; GCP3; Grip104; SPBC98; Spc98p; Spc98; TUBGCP3", "protein_names_uniprotkb": "Gamma-tubulin complex component 3; GCP-3; Gamma-ring complex protein 104 kDa; Spindle pole body protein Spc98 homolog; h104p; hGCP3; hGrip104; hSpc98", "protein_names_refseq": "gamma-ring complex protein 104 kDa; gamma-tubulin complex component 3 isoform 2; gamma-tubulin complex component 3; spindle pole body protein Spc98 homolog; tubulin gamma complex associated protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10426); (R-HSA-380270); (R-HSA-380320)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "11237011;11956313;12221128;14654843;16462731;17959831;18452278;18767875;20068231;23186163;23481700;23886939;23921553;24715725;25418920;25576301;25892735;26079448;26154972;26992070;27920218;28063628;28218747;28510447;28649982;28832583;28851027;28904123;29242379;29351928;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30784271;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34405274;34509645;34515875;34561969;35051231;35251023;35580925;36010968;36241641;38305685;38609661;39321809;39534244;7769006;7790358;8838651;9566967;9566969", "class_list": "", "function": "Authors show genetically that GCP3/Spc98 function is fully conserved with Alp6 across species but that functional differences exist between GCP2/Spc97 and Alp4., [RefSeq, PubMed]; CircTUBGCP3 Contributes to the Malignant Progression of Rectal Cancer., [RefSeq, PubMed]; Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:38305685, PubMed:38609661, PubMed:39321809, PubMed:9566967). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:38305685, PubMed:38609661, PubMed:39321809)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; NMR secondary structure and interactions of recombinant human MOZART1 protein with its binding partner, GCP3, has been presented., [RefSeq, PubMed]; This study demonstrated that Overexpression and Nucleolar Localization gcp3 in glioblastoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O43631;O60852;O60853;Q5T8L2;Q7Z4K1;Q96I79", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005198 structural molecule activity;GO:0043015 gamma-tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0007338 single fertilization;GO:0007020 microtubule nucleation;GO:0051225 spindle assembly;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q96CW5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MS3-1", "uniprot_id": [ { "id": "GL1D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MS3", "type": "external" } ], "mass": 38507.0, "length": 346, "protein_name": "Glycosyltransferase 1 domain-containing protein 1", "gene_name": "GLT1D1", "organism": "Human", "refseq_name": "glycosyltransferase 1 domain-containing protein 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_653270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653270", "type": "external" } ], "gene_names_uniprotkb": "GLT1D1", "gene_names_refseq": "GLT1D1", "protein_names_uniprotkb": "Glycosyltransferase 1 domain-containing protein 1; 2.4.-.-", "protein_names_refseq": "glycosyltransferase 1 domain-containing protein 1 isoform 1 precursor; glycosyltransferase 1 domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:144423)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23481700;28832583;29242379;29967481;32157792", "class_list": "glycogene;glycosyltransferase", "function": "GLT1D1 single nucleotide polymorphism rs7300146 is associated with childhood-onset systemic lupus erythematosus. Erratum:[Sci Rep. 2018 Jul 31;8(1):11713. doi: 10.1038/s41598-018-30082-9. PMID: 30065249] Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of GLT1D1 induces immunosuppression through glycosylation of PD-L1 and predicts poor prognosis in B-cell lymphoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 465, "reported_interactions": 0, "missing_score": 9393, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86XG8", "ec_number_list": [], "go_molecular_function": "GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96MS3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RT7-1", "uniprot_id": [ { "id": "GCP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RT7", "type": "external" } ], "mass": 200498.0, "length": 1819, "protein_name": "Gamma-tubulin complex component 6", "gene_name": "TUBGCP6", "organism": "Human", "refseq_name": "gamma-tubulin complex component 6", "refseq_ac": [ { "id": "NP_065194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065194", "type": "external" } ], "gene_names_uniprotkb": "TUBGCP6; GCP6; KIAA1669", "gene_names_refseq": "GCP-6; GCP6; MCCRP1; MCCRP; MCPHCR; TUBGCP6", "protein_names_uniprotkb": "Gamma-tubulin complex component 6; GCP-6", "protein_names_refseq": "gamma-tubulin complex component 6; tubulin gamma complex associated protein 6", "tax_id": 9606, "disease": "microcephaly and chorioretinopathy 1 (Disease Ontology:DOID:0080105)", "pathway": " (hsa:85378); (R-HSA-380270); (R-HSA-380320)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11258795;11694571;11956313;12221128;14654843;15302935;16462731;18477386;22279524;22302995;23090970;23481700;23921553;24190977;24715725;25645385;25892735;26992070;27846572;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29557506;29632046;29769354;30315122;30429286;31077665;31154438;31844290;32157095;32357974;32387766;32502341;32897882;32938616;33137195;33298915;33717175;33912179;34171305;34561969;34932366;34954520;35051231;35318648;36241641;36284347;37031378;38305685;38609661;39321809;7769006;7790358;8838651", "class_list": "", "function": "A family of 2 children with learning difficulties, abnormal peripheral retinal vasculogenesis, and rod-cone dystrophy were investigated. They were found to have bi-allelic splicing variants in TUBGCP6., [RefSeq, PubMed]; Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review. Review article, [RefSeq, PubMed]; Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:11694571, PubMed:38305685, PubMed:38609661, PubMed:39321809). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:38305685, PubMed:38609661, PubMed:39321809)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation., [UniProtKB, UniProtKB, UniProtKB]; Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy., [RefSeq, PubMed]; SF3B14 is involved in the centrosome regulation through splicing of TUBGCP6 pre-mRNA., [RefSeq, PubMed]; The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 9820, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5JZ80;Q6PJ40;Q86YE9;Q9BY91;Q9UGX3;Q9UGX4", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0043015 gamma-tubulin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0016020 membrane", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0007020 microtubule nucleation;GO:0051225 spindle assembly;GO:0051321 meiotic cell cycle;GO:0031122 cytoplasmic microtubule organization", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96RT7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3K2-1", "uniprot_id": [ { "id": "GHITM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3K2", "type": "external" } ], "mass": 37205.0, "length": 345, "protein_name": "Growth hormone-inducible transmembrane protein", "gene_name": "GHITM", "organism": "Human", "refseq_name": "growth hormone-inducible transmembrane protein", "refseq_ac": [ { "id": "NP_055209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055209", "type": "external" } ], "gene_names_uniprotkb": "GHITM; DERP2; MICS1; My021; PRO281; TMBIM5", "gene_names_refseq": "DERP2; GHITM; HSPC282; MICS1; My021; PTD010; TMBIM5", "protein_names_uniprotkb": "Growth hormone-inducible transmembrane protein; Dermal papilla-derived protein 2; MICS1; Mitochondrial morphology and cristae structure 1; Transmembrane BAX inhibitor motif-containing protein 5", "protein_names_refseq": "dermal papilla-derived protein 2; growth hormone-inducible transmembrane protein; mitochondrial morphology and cristae structure 1; transmembrane BAX inhibitor motif containing 5; transmembrane BAX inhibitor motif-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:27069)", "pathway_count": 1, "publication_count": 99, "publication_id_list": "11230166;12975309;15104674;16385451;18417609;18440869;20112406;21993680;23481700;24715725;25418920;25469497;25645385;25892735;26154972;26375851;26811146;26929215;26992070;27543614;27600516;27846572;27920218;28063628;28218747;28228285;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35561310;35580925;35912435;36010968;36215666;36241641;36284347;36321428;37938771;38588015;40596516", "class_list": "", "function": "GHITM regulates malignant phenotype and sensitivity to PD-1 blockade of renal cancer cells via Notch signalling., [RefSeq, PubMed]; MICS1 individually functions in mitochondrial morphology and cytochrome c release., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays an important role in maintenance of mitochondrial morphology and in mediating either calcium or potassium/proton antiport (PubMed:18417609, PubMed:32977469, PubMed:35912435, PubMed:36321428). Mediates proton-dependent calcium efflux from mitochondrion (PubMed:35912435, PubMed:36321428). Also functions as an electroneutral mitochondrial proton/potassium exchanger (PubMed:36321428). Required for the mitochondrial tubular network and cristae organization (PubMed:18417609, PubMed:32977469, PubMed:36321428). Involved in apoptotic release of cytochrome c (PubMed:18417609). Inhibits the proteolytic activity of AFG3L2, stimulating respiration and stabilizing respiratory enzymes in actively respiring mitochondria (PubMed:36321428). However, when mitochondria become hyperpolarized, GHITM loses its inhibitory activity toward AFG3L2 and the now the active AFG3L2 turns first on GHITM and, if hyperpolarization persists, on other proteins of the mitochondria, leading to a broad remodeling of the mitochondrial proteome (PubMed:36321428)., [UniProtKB, PubMed, PubMed, PubMed]; The tmbim5 may participate in cell death regulation by interacting with proteins of Bcl-2 family, promoting tumor metastasis, which is deduced from the evolutionary conservation of the membrane protein family containing multiple membrane spanning segments, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9Z9;D3DWE0;O95894;Q5VT95;Q9H0P2", "ec_number_list": [], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0015369 calcium:proton antiporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006816 calcium ion transport;GO:0006915 apoptotic process;GO:0006851 mitochondrial calcium ion transmembrane transport;GO:0090201 negative regulation of release of cytochrome c from mitochondria;GO:1905448 positive regulation of mitochondrial ATP synthesis coupled electron transport", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q9H3K2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3P7-1", "uniprot_id": [ { "id": "GCP60_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3P7", "type": "external" } ], "mass": 60593.0, "length": 528, "protein_name": "Golgi resident protein GCP60", "gene_name": "ACBD3", "organism": "Human", "refseq_name": "Golgi resident protein GCP60", "refseq_ac": [ { "id": "NP_073572", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073572", "type": "external" } ], "gene_names_uniprotkb": "ACBD3; GCP60; GOCAP1; GOLPH1", "gene_names_refseq": "ACBD3; GCP60; GOCAP1; GOLPH1; PAP7", "protein_names_uniprotkb": "Golgi resident protein GCP60; Acyl-CoA-binding domain-containing protein 3; GOCAP1; GOLPH1; Golgi complex-associated protein 1; Golgi phosphoprotein 1; PBR- and PKA-associated protein 7; Peripheral benzodiazepine receptor-associated protein PAP7", "protein_names_refseq": "Golgi resident protein GCP60; PBR- and PKA-associated protein 7; PKA (RIalpha)-associated protein; acyl-Coenzyme A binding domain containing 3; golgi complex associated protein 1, 60kDa; golgi phosphoprotein 1; peripheral benzodiazepine receptor-associated protein PAP7", "tax_id": 9606, "disease": "", "pathway": " (hsa:64746); (R-HSA-432722)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10394364;11590181;11604418;11694590;11994746;12665801;12692076;15102850;16155256;17116749;18452278;18691976;20068231;22124328;22223895;22258260;23301498;23481700;23572552;24275569;24714562;24715725;25418920;25502872;25576301;25645385;25892735;26154972;26728094;26992070;27009356;27397612;27600516;27846572;27920218;27989622;28065508;28228285;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30484775;30779550;30833945;31154438;31222486;31381608;31844290;31848261;32157095;32265295;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33392160;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34932366;35051231;35318648;35494241;35580925;36010968;36012147;36215666;36284347;36581221;37044218;37195633;37938771;38098097;38134218;38665916;40914422;8374173;8524399;8670264", "class_list": "", "function": "(Microbial infection) Plays an essential role in Aichi virus RNA replication by recruiting PI4KB at the viral replication sites., [UniProtKB, PubMed, PubMed, PubMed]; ACBD3 Bioinformatic Analysis and Protein Expression in Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; An A-kinase anchoring protein (ACBD3) coordinates traffic-induced PKA activation at the Golgi., [RefSeq, PubMed]; Identification of ACBD3 as a new molecular biomarker in pan-cancers through bioinformatic analysis: a preclinical study. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the maintenance of Golgi structure by interacting with giantin, affecting protein transport between the endoplasmic reticulum and Golgi (PubMed:11590181). Involved in hormone-induced steroid biosynthesis in testicular Leydig cells (By similarity). Recruits PI4KB to the Golgi apparatus membrane; enhances the enzyme activity of PI4KB activity via its membrane recruitment thereby increasing the local concentration of the substrate in the vicinity of the kinase (PubMed:27009356)., [UniProtKB, PubMed, UniProtKB, PubMed]; Molecular cloning, chromosomal localization and expression pattern of PAP7., [RefSeq, PubMed]; Recruitment of PI4KIIIbeta to the Golgi by ACBD3 is dependent on an upstream pathway of a SNARE complex and golgins., [RefSeq, PubMed]; The C10orf76-PI4KB axis orchestrates CERT-mediated ceramide trafficking to the distal Golgi., [RefSeq, PubMed]; The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 39, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RB29;Q5VTJ0;Q6P9F1;Q8IZC5;Q8N4D6;Q9H6U3", "ec_number_list": [], "go_molecular_function": "GO:0000062 fatty-acyl-CoA binding;GO:0034237 protein kinase A regulatory subunit binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0006694 steroid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9H3P7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBQ8-1", "uniprot_id": [ { "id": "GGA2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBQ8", "type": "external" } ], "mass": 15482.0, "length": 144, "protein_name": "Putative golgin subfamily A member 2B", "gene_name": "GOLGA2P5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GOLGA2P5; GOLGA2B; GOLGA2L1; PP1757", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative golgin subfamily A member 2B; Golgin subfamily A member 2-like protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "15498874", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NSV2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9HBQ8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR23-1", "uniprot_id": [ { "id": "GDF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR23", "type": "external" } ], "mass": 41387.0, "length": 364, "protein_name": "Growth/differentiation factor 3", "gene_name": "GDF3", "organism": "Human", "refseq_name": "growth/differentiation factor 3 preproprotein", "refseq_ac": [ { "id": "NP_065685", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065685", "type": "external" } ], "gene_names_uniprotkb": "GDF3; PRO248", "gene_names_refseq": "GDF3; KFS3; MCOP7; MCOPCB6", "protein_names_uniprotkb": "Growth/differentiation factor 3; GDF-3", "protein_names_refseq": "growth/differentiation factor 3 preproprotein", "tax_id": 9606, "disease": "isolated microphthalmia 7 (Disease Ontology:DOID:0060838); Klippel-Feil syndrome 3 (Disease Ontology:DOID:0080591); microphthalmia, isolated, with coloboma 6 (MONDO:MONDO:0013376)", "pathway": " (hsa:9573)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12975309;16126341;19864492;21805089;25892735;27803451;29557506;29735971;35051231;35632746;36484260;38639949", "class_list": "", "function": "Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anterior-posterior identity through a receptor complex comprising the receptor ACVR1B and the coreceptor CRIPTO (By similarity). Regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the receptor complex based on ACVR1C and CRIPTO/Cripto (PubMed:21805089)., [UniProtKB, PubMed, UniProtKB]; Increased Serum Levels of Growth-Differentiation Factor 3 (GDF3) and Inflammasome-Related Markers in Pregnant Women during Acute Zika Virus Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Cardiokine GDF3 Predicts Adverse Fibrotic Remodeling After Myocardial Infarction., [RefSeq, PubMed]; OCT4 plays a role as a transcriptional activator for GDF3 transcription in pluripotent human embryonic carcinoma NCCIT cells and contributes to the understanding of the molecular networks of stem cell regulators in germ cell-derived pluripotency and tumorigenesis., [RefSeq, PubMed]; Present data suggested that GDF3 might play important roles in the central nervous system (CNS), especially in cerebral cortex, hippocampus and cerebellum, and it shed new light on further research of GDF3 in the central nervous system., [RefSeq, PubMed]; The 4 of the 5 variants in [i]GDF3[/i] gene contribute different pathogenicity in congenital scoliosis, which may provide molecular evidence for clinical genetic testing. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]., [RefSeq]; [Expression and significance analysis of GDF3 in testicular cancer based on TCGA and GTEx databases]., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8NEJ4", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0045605 negative regulation of epidermal cell differentiation;GO:0045600 positive regulation of fat cell differentiation;GO:0001501 skeletal system development;GO:0030509 BMP signaling pathway;GO:0030514 negative regulation of BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9NR23-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS71-1", "uniprot_id": [ { "id": "GKN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS71", "type": "external" } ], "mass": 20331.0, "length": 185, "protein_name": "Gastrokine-1", "gene_name": "GKN1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GKN1; AMP18; CA11; PRO1005", "gene_names_refseq": "", "protein_names_uniprotkb": "Gastrokine-1; 18 kDa antrum mucosa protein; AMP-18; Protein CA11", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:56287)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10835488;11237011;12851218;12975309;15221938;16959974;27893789;37938771", "class_list": "", "function": "Has mitogenic activity and may be involved in maintaining the integrity of the gastric mucosal epithelium., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8IUA9", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0030141 secretory granule", "go_biological_process": "GO:0042127 regulation of cell population proliferation;GO:0051781 positive regulation of cell division;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9NS71-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UEU5-1", "uniprot_id": [ { "id": "GGE2D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UEU5", "type": "external" } ], "mass": 12764.0, "length": 116, "protein_name": "G antigen 2D", "gene_name": "GAGE2D; GAGE8", "organism": "Human", "refseq_name": "G antigen 2D", "refseq_ac": [ { "id": "NP_001091877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091877", "type": "external" } ], "gene_names_uniprotkb": "GAGE2D; GAGE8", "gene_names_refseq": "CT4.8; GAGE-2D; GAGE-8; GAGE2D; GAGE8", "protein_names_uniprotkb": "G antigen 2D; CT4.8; Cancer/testis antigen 4.8; G antigen 8; GAGE-2D; GAGE-8", "protein_names_refseq": "G antigen 2D; cancer/testis antigen 4.8", "tax_id": 9606, "disease": "", "pathway": " (hsa:100101629); (hsa:26749); (hsa:729408)", "pathway_count": 3, "publication_count": 2, "publication_id_list": "10397259;18179644", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NG46;A6NNR8;B7ZL76;Q4V325", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9UEU5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK05-1", "uniprot_id": [ { "id": "GDF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK05", "type": "external" } ], "mass": 47320.0, "length": 429, "protein_name": "Growth/differentiation factor 2", "gene_name": "GDF2", "organism": "Human", "refseq_name": "growth/differentiation factor 2 preproprotein", "refseq_ac": [ { "id": "NP_057288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057288", "type": "external" } ], "gene_names_uniprotkb": "GDF2; BMP9", "gene_names_refseq": "BMP-9; BMP9; GDF2; HHT5", "protein_names_uniprotkb": "Growth/differentiation factor 2; BMP-9; Bone morphogenetic protein 9; GDF-2", "protein_names_refseq": "bone morphogenetic protein 9; growth/differentiation factor 2 preproprotein", "tax_id": 9606, "disease": "hereditary hemorrhagic telangiectasia (Disease Ontology:DOID:1270)", "pathway": " (hsa:2658); (R-HSA-201451)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10.1101/2023.09.13.557529;10458166;10587654;10712517;11016919;11121043;11158580;11278251;11509558;11571290;11714695;11779505;12151385;12519765;12592392;12821673;12857866;15851468;16672363;17029022;17068149;17311849;17356069;18309101;18452278;20628059;21710321;21737454;22347366;22718755;22799562;23300529;23972370;25237187;25751889;28564608;29242379;29557506;32350084;35251023;38514094;38795838;38885771;39125626;7644468;7791754;8119126;8653785;8893010;9136927;9436979", "class_list": "", "function": "BMP9 was produced by human hepatocytes and intrahepatic biliary epithelial cells.BMP9 circulates in plasma as an unprocessed inactive form that can be further activated by furin a serine endoprotease, and as a mature and fully active form Erratum:[Cell Mol Life Sci. 2012 Feb;69(3):485], [RefSeq, PubMed]; Effects of Modulating BMP9, BMPR2, and AQP1 on BMP Signaling in Human Pulmonary Microvascular Endothelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Hepatic-derived BMP9 is involved in hepatic fibrosis-induced kidney injury through inhibition of renal VEGFA., [RefSeq, PubMed]; Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study. Review article Publication Status: Online-Only, [RefSeq, PubMed]; SEMA3G regulates BMP9 inhibition of VEGF-mediated migration and network formation in pulmonary endothelial cells., [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5VSQ9;Q9Y571", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030858 positive regulation of epithelial cell differentiation;GO:0001525 angiogenesis;GO:0001570 vasculogenesis;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006879 intracellular iron ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9UK05-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3F1-1", "uniprot_id": [ { "id": "LYCHS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3F1", "type": "external" } ], "mass": 96919.0, "length": 870, "protein_name": "Lysosomal cholesterol signaling protein", "gene_name": "GPR155", "organism": "Human", "refseq_name": "lysosomal cholesterol signaling protein isoform 1", "refseq_ac": [ { "id": "NP_001028217", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028217", "type": "external" } ], "gene_names_uniprotkb": "GPR155; PGR22", "gene_names_refseq": "DEP.7; DEPDC3; GPR155; LYCHOS; PGR22", "protein_names_uniprotkb": "Lysosomal cholesterol signaling protein; G protein-coupled receptor PGR22; LYCHOS", "protein_names_refseq": "G-protein coupled receptor PGR22; integral membrane protein GPR155; lysosomal cholesterol signaling protein isoform 1; lysosomal cholesterol signaling protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:151556)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12679517;25418920;25645385;25892735;27846572;27862975;28832583;29242379;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30779550;31154438;31844290;31848261;32157095;32350084;32502341;32983136;33392160;33592498;33717175;33912179;33981976;34357683;35051231;35580925;36007018;36241641;36284347;37938771;38678850;39358511", "class_list": "", "function": "Cholesterol-binding protein that acts as a regulator of mTORC1 signaling pathway (PubMed:36007018). Acts as a sensor of cholesterol to signal cholesterol sufficiency to mTORC1: in presence of cholesterol, binds cholesterol, leading to disruption of the interaction between the GATOR1 and KICSTOR complexes and promotion of mTORC1 signaling (PubMed:36007018, PubMed:39358511). Upon cholesterol starvation, GPR155/LYCHOS is unable to perturb the association between GATOR1 and KICSTOR, leading to mTORC1 signaling inhibition (PubMed:36007018). Binds indole-3-acetic acid and may play a role in tryptophan metabolism (PubMed:39358511)., [UniProtKB, PubMed, PubMed]; Circular RNA hsa_circ_0094976 modulates GPR155 to inhibit gastric adenocarcinoma malignant characteristics by targeting miR-223-3p., [RefSeq, PubMed]; Lysosomal GPCR-like protein LYCHOS signals cholesterol sufficiency to mTORC1., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RCI2;D3DPE2;Q4G0Y6;Q53SJ3;Q53TA8;Q69YG8;Q86SP9;Q8N261;Q8N639;Q8N8K3;Q96MV6", "ec_number_list": [], "go_molecular_function": "GO:0015485 cholesterol binding", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane;GO:0016020 membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0035556 intracellular signal transduction;GO:0050890 cognition;GO:0055085 transmembrane transport;GO:0071397 cellular response to cholesterol", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q7Z3F1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MQT2-1", "uniprot_id": [ { "id": "GOG8B_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MQT2", "type": "external" } ], "mass": 67278.0, "length": 603, "protein_name": "Golgin subfamily A member 8B", "gene_name": "GOLGA8B", "organism": "Human", "refseq_name": "golgin subfamily A member 8B", "refseq_ac": [ { "id": "NP_001018861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018861", "type": "external" } ], "gene_names_uniprotkb": "GOLGA8B", "gene_names_refseq": "GOLGA5; GOLGA8B", "protein_names_uniprotkb": "Golgin subfamily A member 8B; Golgin-67", "protein_names_refseq": "golgi autoantigen, golgin subfamily a, 8B; golgin subfamily A member 8B; golgin-67", "tax_id": 9606, "disease": "", "pathway": " (hsa:440270)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "10660574;10677249;11237011;29741879;35593117", "class_list": "", "function": "May be involved in maintaining Golgi structure., [UniProtKB]; Silencing GOLGA8B inhibits cell invasion and metastasis by suppressing STAT3 signaling pathway in lung squamous cell carcinoma. Erratum:[Clin Sci (Lond). 2024 Aug 21;138(16):987. doi: 10.1042/CS-2022-0128_COR. PMID: 39119688], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 8851, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NLZ2;O94937;Q2M3S9;Q9NZG8;Q9NZW0;Q9NZW3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032580 Golgi cisterna membrane;GO:0005801 cis-Golgi network;GO:0000137 Golgi cis cisterna", "go_biological_process": "GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A8MQT2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B7ZAQ6-1", "uniprot_id": [ { "id": "GPHRA_HUMAN", "url": "https://www.uniprot.org/uniprot/B7ZAQ6", "type": "external" } ], "mass": 52917.0, "length": 455, "protein_name": "Golgi pH regulator A", "gene_name": "GPHRA; GPR89A", "organism": "Human", "refseq_name": "Golgi pH regulator A isoform 2", "refseq_ac": [ { "id": "NP_001091082", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091082", "type": "external" } ], "gene_names_uniprotkb": "GPHRA; GPR89A; CGI-13; GPR89A; GPR89; PRO218; SH120", "gene_names_refseq": "GPHRA; GPHR; GPR89A; GPR89; SH120; UNQ192", "protein_names_uniprotkb": "Golgi pH regulator A; Protein GPR89A; Putative MAPK-activating protein PM01; Putative NF-kappa-B-activating protein 90", "protein_names_refseq": "G protein-coupled receptor 89A; Golgi pH regulator A isoform 2; protein GPR89; putative MAPK-activating protein PM01; putative NF-kappa-B-activating protein 90", "tax_id": 9606, "disease": "", "pathway": " (hsa:653519)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12761501;12975309;18794847;19135895;24715725;24722188;25418920;28904123;31844290;32502341;33592498;33912179;34171305;34185709", "class_list": "", "function": "Voltage-gated channel that enables the transfer of monoatomic anions such as iodide, chloride, bromide and fluoride which may function in counter-ion conductance and participates in Golgi acidification (PubMed:18794847). Plays a role in lymphocyte development, probably by acting as a RABL3 effector in hematopoietic cells (By similarity). Essential for maintaining the acidic luminal pH of the Golgi apparatus in neurons, which is important for preserving Golgi structural integrity (By similarity). This integrity supports proper axonal transport and synaptic maintenance in cerebellar inhibitory neurons, including Purkinje and basket cells (By similarity). Additionally, Golgi acidification facilitates the activation of SREBP2, thereby ensuring sufficient cholesterol biosynthesis necessary for normal neuronal morphology and function (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NN37;B2RUV3;B3KMN3;B4DLT3;B4DXE7;Q53FQ9;Q5T2V8;Q5T5P5;Q659E2;Q6NVY5;Q9P0S4;Q9Y302", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0008308 voltage-gated monoatomic anion channel activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0032580 Golgi cisterna membrane;GO:0034702 monoatomic ion channel complex;GO:0030660 Golgi-associated vesicle membrane;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0030217 T cell differentiation;GO:0051452 intracellular pH reduction", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "B7ZAQ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2T6-1", "uniprot_id": [ { "id": "GPR55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2T6", "type": "external" } ], "mass": 36637.0, "length": 319, "protein_name": "G protein-coupled receptor 55", "gene_name": "GPR55", "organism": "Human", "refseq_name": "G-protein coupled receptor 55", "refseq_ac": [ { "id": "NP_005674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005674", "type": "external" } ], "gene_names_uniprotkb": "GPR55", "gene_names_refseq": "GPR55; LPIR1", "protein_names_uniprotkb": "G protein-coupled receptor 55", "protein_names_refseq": "G-protein coupled receptor 55", "tax_id": 9606, "disease": "", "pathway": " (hsa:9290); (R-HSA-373076); (R-HSA-418594)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "11007482;11237011;12120503;12522134;12524422;12955148;14617636;15141213;15280385;15326175;15929991;15951850;16540462;1656963;16634148;16754668;16844083;16923326;17139494;17339491;17462861;17765871;17876302;18434541;18577758;18588883;18757503;19723626;19805329;21796212;2263478;2534964;25892735;2748346;27920218;28228285;2834384;28832583;28904123;29242379;29769354;31844290;32350084;34211107;34357683;34932366;35580925;36142844;36523570;37544935;37688769;37866808;37998380;7498464;7568007;7689702;7775459;7937899;7946354;8015379;8406495;9931487", "class_list": "", "function": "A comprehensive survival and prognosis analysis of GPR55 expression in hepatocellular carcinoma., [RefSeq, PubMed]; Elucidation of GPR55-Associated Signaling behind THC and LPI Reducing Effects on Ki67-Immunoreactive Nuclei in Patient-Derived Glioblastoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor that binds to several ligands including 2-arachidonoyl lysophosphatidylinositol or lysophosphatidylglucoside with high affinity, leading to rapid and transient activation of numerous intracellular signaling pathways (PubMed:36142844, PubMed:36523570, PubMed:37544935). Induces the Ca(2+) release from intracellular stores via ERK, the heterotrimeric G protein GNA13 and RHOA leading to morphological changes including cell rounding and stress fiber formation (PubMed:36142844). In macrophages, acts downstream of lysophosphatidylglucoside to inhibit the translocation of the phospholipid-transporting ABCA1 to plasma membrane and subsequent cholesterol efflux leading to lipid accumulation and foam cell formation (PubMed:37544935)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Lysophosphatidylglucoside/GPR55 signaling promotes foam cell formation in human M2c macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; Modulation of PI3K/Akt/GSK3beta signaling cascade through G protein-coupled receptor 55 (GPR55) activation: Prenatal lysophosphatidylinositol attenuates valproic acid-induced synaptic abnormalities and mitochondrial dysfunction., [RefSeq, PubMed]; This gene belongs to the G-protein-coupled receptor superfamily. The encoded integral membrane protein is a likely cannabinoid receptor. It may be involved in several physiological and pathological processes by activating a variety of signal transduction pathways. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8N580", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004949 cannabinoid receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0045453 bone resorption;GO:0035025 positive regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9Y2T6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z602-1", "uniprot_id": [ { "id": "GP141_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z602", "type": "external" } ], "mass": 35464.0, "length": 305, "protein_name": "Probable G protein-coupled receptor 141", "gene_name": "GPR141", "organism": "Human", "refseq_name": "probable G-protein coupled receptor 141", "refseq_ac": [ { "id": "NP_001316922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316922", "type": "external" } ], "gene_names_uniprotkb": "GPR141; PGR13", "gene_names_refseq": "GPR141; PGR13", "protein_names_uniprotkb": "Probable G protein-coupled receptor 141; G protein-coupled receptor PGR13", "protein_names_refseq": "G-protein coupled receptor PGR13; probable G-protein coupled receptor 141", "tax_id": 9606, "disease": "", "pathway": " (hsa:353345)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12679517;14623098;19664994;24715725;25672891;25787250;28904123;29557506;31217245;32157095;34357683;35580925;37204251", "class_list": "", "function": "G-protein-coupled receptor 141 mediates breast cancer proliferation and metastasis by regulating oncogenic mediators and the p-mTOR/p53 axis. Publication Status: Online-Only, [RefSeq, PubMed]; GPR141 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]., [RefSeq]; GPR141-NME8 locus had strong genetic effect on susceptibility to generalized periodontitis in Japanese individuals with history of smoking. identified suggestive loci for periodontitis in Japanese population., [RefSeq, PubMed]; Orphan receptor., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D1X7;Q0VAR5;Q86SP3", "ec_number_list": [], "go_molecular_function": "GO:0008142 oxysterol binding;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q7Z602-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXV9-1", "uniprot_id": [ { "id": "GON7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXV9", "type": "external" } ], "mass": 10859.0, "length": 100, "protein_name": "EKC/KEOPS complex subunit GON7", "gene_name": "GON7", "organism": "Human", "refseq_name": "EKC/KEOPS complex subunit GON7", "refseq_ac": [ { "id": "NP_115879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115879", "type": "external" } ], "gene_names_uniprotkb": "GON7; C14orf142", "gene_names_refseq": "C14orf142; GON7; PNAS-127", "protein_names_uniprotkb": "EKC/KEOPS complex subunit GON7", "protein_names_refseq": "EKC/KEOPS complex subunit GON7; GON7, KEOPS complex subunit homolog; uncharacterized protein C14orf142", "tax_id": 9606, "disease": "Galloway-Mowat syndrome 9 (Disease Ontology:DOID:0061292); Galloway-Mowat syndrome (Disease Ontology:DOID:0080694)", "pathway": " (hsa:84520); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18567810;19017811;19414587;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23381944;23604283;24126054;24204302;24901367;25261850;25404562;25916855;26160102;26310293;27055666;27903914;28832583;29242379;29557506;30429286;31481669;31530632;31844290;31848261;32157095;32357974;35051231;35154160;36610787;9430663;9851972", "class_list": "", "function": "Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:27903914, PubMed:31481669). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:27903914, PubMed:31481669). GON7 plays a supporting role to the catalytic subunit OSGEP in the complex (PubMed:27903914, PubMed:31481669)., [UniProtKB, PubMed, PubMed]; Mutations in GON7, encoding the fifth KEOPS subunit, lead to a milder form of Galloway-Mowat syndrome (GAMOS), an autosomal recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. The structure and cellular characterization of GON7 suggest its involvement in the cellular stability and quaternary arrangement of the KEOPS complex. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0D2N1;Q0P6C4;Q3B7W5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000408 EKC/KEOPS complex", "go_biological_process": "GO:1990145 maintenance of translational fidelity;GO:0002949 tRNA threonylcarbamoyladenosine modification", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9BXV9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "I3L273-1", "uniprot_id": [ { "id": "GFY_HUMAN", "url": "https://www.uniprot.org/uniprot/I3L273", "type": "external" } ], "mass": 56104.0, "length": 518, "protein_name": "Golgi-associated olfactory signaling regulator", "gene_name": "GFY", "organism": "Human", "refseq_name": "Golgi-associated olfactory signaling regulator precursor", "refseq_ac": [ { "id": "NP_001182185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182185", "type": "external" } ], "gene_names_uniprotkb": "GFY", "gene_names_refseq": "GFY; Goofy", "protein_names_uniprotkb": "Golgi-associated olfactory signaling regulator; Golgi protein in olfactory neurons; Goofy", "protein_names_refseq": "Golgi protein in olfactory neurons; Golgi-associated olfactory signaling regulator precursor; Golgi-associated olfactory signaling regulator; protein Goofy", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507003)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "31844290;36241641", "class_list": "", "function": "Required for proper function of the olfactory system. May be involved in establishing the acuity of olfactory sensory signaling (By similarity)., [UniProtKB]", "predicted_glycosites": 8, "predicted_n_glycosites": 5, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "I3L273-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "I6L899-1", "uniprot_id": [ { "id": "GOG8R_HUMAN", "url": "https://www.uniprot.org/uniprot/I6L899", "type": "external" } ], "mass": 71490.0, "length": 631, "protein_name": "Golgin subfamily A member 8R", "gene_name": "GOLGA8R", "organism": "Human", "refseq_name": "golgin subfamily A member 8R", "refseq_ac": [ { "id": "NP_001269413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269413", "type": "external" } ], "gene_names_uniprotkb": "GOLGA8R", "gene_names_refseq": "GOLGA8R", "protein_names_uniprotkb": "Golgin subfamily A member 8R", "protein_names_refseq": "golgin subfamily A member 8R", "tax_id": 9606, "disease": "", "pathway": " (hsa:101059918); (R-HSA-9013148); (R-HSA-9013405)", "pathway_count": 3, "publication_count": 205, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11784792;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12547822;12577064;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15601624;15611138;15728722;15850391;15897194;16112081;16116428;16184169;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17916560;17932950;17976533;18045877;18056264;18218625;18363964;18426980;18653540;18786931;18835169;18838382;18929667;19605563;19934221;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22665057;22970203;23087206;23096567;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24102721;24259668;24335996;24352656;24584464;24933155;24996924;25024229;25211221;25704760;25721503;25746724;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26887924;27096001;27145964;27216196;27481945;27555588;27798618;27852748;28028151;28196833;28486133;28825699;28860633;28947137;29776664;30061681;30524438;30853411;31871319;32203420;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8945468;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9659915;9670022;9829970;9843499;9846874", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "F5GYM5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032580 Golgi cisterna membrane;GO:0005801 cis-Golgi network;GO:0000137 Golgi cis cisterna", "go_biological_process": "GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "I6L899-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00270-1", "uniprot_id": [ { "id": "GPR31_HUMAN", "url": "https://www.uniprot.org/uniprot/O00270", "type": "external" } ], "mass": 35075.0, "length": 319, "protein_name": "12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor", "gene_name": "GPR31", "organism": "Human", "refseq_name": "12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor", "refseq_ac": [ { "id": "NP_005290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005290", "type": "external" } ], "gene_names_uniprotkb": "GPR31", "gene_names_refseq": "12-HETER; GPR31; HETER1; HETER", "protein_names_uniprotkb": "12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor; 12-(S)-HETE receptor; 12-HETER; G protein-coupled receptor 31; GPR31/12-HETER", "protein_names_refseq": "12-(S)-HETE acid receptor; 12-(S)-HETE receptor; 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (HETE) receptor; 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor; GPR31/12-HETER; bA517H2.2 (G protein-coupled receptor 31); hydroxyeicosatetraenoic (HETE) acid receptor 1; probable G-protein coupled receptor 31", "tax_id": 9606, "disease": "", "pathway": " (hsa:2853); (R-HSA-418594); (R-HSA-444209)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "11007482;12120503;12496283;12496284;15951850;16634148;16923326;18434541;18577758;21712392;2534964;26965684;2748346;2834384;28619714;29227475;31119277;32165663;32983136;33972436;35011589;35051231;39432783;7937899;8015379;8406495;9205127", "class_list": "", "function": "12-HETER represents the first identified high affinity receptor for the 12-(S)-HETE hydroxyl fatty acids., [RefSeq, PubMed]; Expression of Proton-Sensitive GPR31, GPR151, TASK1 and TASK3 in Common Skin Tumors. Publication Status: Online-Only, [RefSeq, PubMed]; High-affinity receptor for 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (12-S-HETE), with much lower affinities for other HETE isomers (PubMed:21712392, PubMed:29227475). 12-S-HETE is a eicosanoid, a 12-lipoxygenase (ALOX12) metabolite of arachidonic acid, involved in many physiologic and pathologic processes (PubMed:26965684, PubMed:28619714, PubMed:29227475). 12-S-HETE-binding leads to activation of ERK1/2 (MAPK3/MAPK1), MEK, and NF-kappa-B pathways leading to cell growth (PubMed:21712392, PubMed:29227475). Plays a crucial role for proliferation, survival and macropinocytosis of KRAS-dependent cancer cells by mediating the translocation of KRAS from the endoplasmic reticulum to the plasma membrane (PM) and its association with the PM (PubMed:28619714). Contributes to enhanced immune responses by inducing dendrite protrusion of small intestinal CX3CR1(+) phagocytes for the uptake of luminal antigens (By similarity). Acts also as a key receptor for 12-(S)-HETE-mediated liver ischemia reperfusion injury (PubMed:29227475)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Mucosal acidosis elicits a unique molecular signature in epithelia and intestinal tissue mediated by GPR31-induced CREB phosphorylation., [RefSeq, PubMed]; Proton-sensing G protein-coupled receptor., [UniProtKB, PubMed]; Telomere length correlates with subtelomeric DNA methylation in long-term mindfulness practitioners. Publication Status: Online-Only, [RefSeq, PubMed]; The data implicate 12-HETER1 in a critical new role in the regulation of prostate cancer progression and offer a novel alternative target for therapeutic intervention., [RefSeq, PubMed]; The pyruvate-GPR31 axis promotes transepithelial dendrite formation in human intestinal dendritic cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 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"record_id": "O00270-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14775-1", "uniprot_id": [ { "id": "GNB5_HUMAN", "url": "https://www.uniprot.org/uniprot/O14775", "type": "external" } ], "mass": 43566.0, "length": 395, "protein_name": "Guanine nucleotide-binding protein subunit beta-5", "gene_name": "GNB5", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein subunit beta-5 isoform a", "refseq_ac": [ { "id": "NP_006569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006569", "type": "external" } ], "gene_names_uniprotkb": "GNB5", "gene_names_refseq": "GB5; GNB5; HG2E; IDDCA; LADCI; LDMLS1; LDMLS2; gbeta5", "protein_names_uniprotkb": "Guanine nucleotide-binding protein subunit beta-5; Gbeta5; Transducin beta chain 5", "protein_names_refseq": "G protein, beta subunit 5L; guanine nucleotide binding protein (G protein), beta 5; guanine nucleotide-binding protein subunit beta-5 isoform a; guanine nucleotide-binding protein subunit beta-5; guanine nucleotide-binding protein, beta subunit 5L; heterotrimeric guanine nucleotide-binding protein 2E; transducin beta chain 5", "tax_id": 9606, "disease": "Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia (Disease Ontology:DOID:0081008); language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (MONDO:MONDO:0014957)", "pathway": " (hsa:10681); (R-HSA-1296041); (R-HSA-202040); (R-HSA-381676); (R-HSA-392170); (R-HSA-392451); (R-HSA-392851); (R-HSA-400042); (R-HSA-4086398); (R-HSA-416476); (R-HSA-416482); (R-HSA-418217); (R-HSA-418555); (R-HSA-418592); (R-HSA-418594); (R-HSA-418597); (R-HSA-420092); (R-HSA-428930); (R-HSA-432040); (R-HSA-456926); (R-HSA-500657); (R-HSA-6814122); (R-HSA-8964315); (R-HSA-8964616); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9856530); (R-HSA-997272)", "pathway_count": 29, "publication_count": 545, "publication_id_list": 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"class_list": "", "function": "Cryo-EM structure of human GPR158 receptor coupled to the RGS7-Gbeta5 signaling complex., [RefSeq, PubMed]; Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, such as RGS7 and RGS9, hence involved in the termination of the signaling initiated by the G protein-coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (PubMed:27677260). Increases RGS7 GTPase-activating protein (GAP) activity, thereby regulating mood and cognition (By similarity). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors (PubMed:27677260). May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]., [RefSeq]; Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants., [RefSeq, PubMed]; Structure of the class C orphan GPCR GPR158 in complex with RGS7-Gbeta5. Publication Status: Online-Only, [RefSeq, PubMed]; The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBR5;Q9HAU9;Q9UFT3", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0051087 protein-folding chaperone binding;GO:0030159 signaling receptor complex adaptor activity;GO:0031682 G-protein gamma-subunit binding", "go_cellular_component": "GO:0051286 cell tip;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030425 dendrite", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007212 G protein-coupled dopamine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 54.8, "record_id": "O14775-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15354-1", "uniprot_id": [ { "id": "GPR37_HUMAN", "url": "https://www.uniprot.org/uniprot/O15354", "type": "external" } ], "mass": 67114.0, "length": 613, "protein_name": "Prosaposin receptor GPR37", "gene_name": "GPR37", "organism": "Human", "refseq_name": "prosaposin receptor GPR37 precursor", "refseq_ac": [ { "id": "NP_005293", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005293", "type": "external" } ], "gene_names_uniprotkb": "GPR37", "gene_names_refseq": "EDNRBL; GPR37; PAELR; hET(B)R-LP", "protein_names_uniprotkb": "Prosaposin receptor GPR37; ETBR-LP-1; Endothelin B receptor-like protein 1; G protein-coupled receptor 37; PAELR; Parkin-associated endothelin receptor-like receptor", "protein_names_refseq": "ETBR-LP-1; G protein-coupled receptor 37 (endothelin receptor type B-like); Parkin-associated endothelin receptor-like receptor; endothelin B receptor-like protein 1; probable G-protein coupled receptor 37; prosaposin receptor GPR37 precursor; prosaposin receptor GPR37", "tax_id": 9606, "disease": "Lewy body dementia (Disease Ontology:DOID:12217); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:2861); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 131, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11439185;11457843;11562423;11683476;11773063;12120503;12150907;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14532270;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;17059562;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;20112406;23446738;23584533;23690594;24906252;2534964;25977097;2649896;26869225;2748346;27496565;28341812;2834384;29557506;31154438;3202875;32161166;32350084;33392160;33637132;3366244;34042202;34087483;3525564;35934193;37217939;37732632;37749229;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9144577;9171878;9339362;9521323;9526070;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Activation of PI3K/Akt pathway by G protein-coupled receptor 37 promotes resistance to cisplatin-induced apoptosis in non-small cell lung cancer., [RefSeq, PubMed]; Ecto-GPR37: a potential biomarker for Parkinson's disease. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor that plays a role in several physiological pathways such as resolution of inflammatory pain and oligodendrocyte differentiation (By similarity). Acts as a receptor for several ligands including prosaposin, osteocalcin or neuroprotectin D1. Ligand binding induces endocytosis, followed by an ERK phosphorylation cascade (PubMed:11439185, PubMed:23690594). Acts as a receptor for osteocalcin (OCN) to regulate oligodendrocyte differentiation and central nervous system myelination. Mechanistically, plays a negative role in oligodendrocyte differentiation and myelination during development via activation of the ERK1/2 signaling pathway. Therefore, regulates the stability of myelin or resistance of myelin itself to demyelination. Upon activation by neuroprotectin D1 (NPD1), promotes the activation of phagocytosis in macrophages as well as the shift in cytokine release toward an anti-inflammatory profile, and thus helps to reverse inflammatory pain. In addition, the increased macrophage phagocytosis mediates protection against sepsis upon pathogen infection. Additionally, extracellular vesicles derived from efferocyte express prosaposin, which binds to macrophage GPR37 to increase expression of the efferocytosis receptor TIM4 via an ERK-AP1-dependent signaling axis, leading to increased macrophage efferocytosis efficiency and accelerated resolution of inflammation (By similarity). May also act as a maturation factor of LRP6, protecting LRP6 from the endoplasmic reticulum (ER)-associated protein degradation (ERAD) and thereby promoting the Wnt/beta-catenin signaling pathway (PubMed:28341812)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; GPR37 promotes cancer growth by binding to CDK6 and represents a new theranostic target in lung adenocarcinoma. Erratum:[Pharmacol Res. 2024 Oct;208:107391. doi: 10.1016/j.phrs.2024.107391. PMID: 39242215], [RefSeq, PubMed]; GPR37 promotes colorectal cancer liver metastases by enhancing the glycolysis and histone lactylation via Hippo pathway., [RefSeq, PubMed]; This gene is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease. [provided by RefSeq, Oct 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4D0Y6;O00348;O14768;Q8TD39", "ec_number_list": [], "go_molecular_function": "GO:0036505 prosaposin receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0031072 heat shock protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030425 dendrite", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0016358 dendrite development;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "O15354-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true } ]